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Gene: Lmna MGI:96794

Gene Summary

Name:

lamin A

Synonyms:

lamin A/C, Dhe

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Lmna^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
cornea ulcer	Lmna^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.59×10^-06
abnormal cornea morphology	Lmna^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.31×10^-05
abnormal optic disk morphology	Lmna^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.38×10^-05
improved glucose tolerance	Lmna^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.85×10^-06
short tibia	Lmna^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.33×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

DSS Histology

Images

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Lmna mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Lmna (27 diseases)
Human diseases predicted to be associated with Lmna (5734 diseases)

The table below shows human diseases associated to Lmna by orthology or direct annotation.

Disease	Matching phenotypes	Source
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri...	OMIM:181350
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Arrhythmia, Gait disturbance, ...	OMIM:616516
Muscular Dystrophy, Congenital, Lmna-Related	Muscle fiber atrophy, Hamstring contractures, Neck muscle weakness, Hip contracture, Proximal mus...	OMIM:613205
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98855
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do...	OMIM:605588
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Prominent ear helix, Alopecia totalis, Ankyloglossia, Micrognathia,...	ORPHA:740
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:151660
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los...	ORPHA:2348
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture	ORPHA:157973
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Micrognathia, Reduced subcut...	ORPHA:280365
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Alopecia, Proptosis, Hearing impairment, Limitation of joint mobili...	ORPHA:90153
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Delayed cranial suture closure, Micrognathia, Reduced s...	OMIM:248370
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan...	ORPHA:79474
Hutchinson-Gilford Progeria Syndrome	Alopecia, Congestive heart failure, Osteolysis, Micrognathia, Absence of subcutaneous fat, Malar ...	OMIM:176670
Charcot-Marie-Tooth Disease Type 2B1	Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should...	ORPHA:98856
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Emphysema, Mitral regur...	ORPHA:363618
Restrictive Dermopathy	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Decreased skull ossification, Hyperteloris...	ORPHA:1662
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Proptosis, Convex nasal ridge	OMIM:619793

The table below shows human diseases predicted to be associated to Lmna by phenotypic similarity.

Disease	Matching phenotypes	Source
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar...	ORPHA:98798
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Cardiomyopathy, He...	ORPHA:98912
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri...	OMIM:181350
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Danon Disease	Limb muscle weakness, Proximal muscle weakness, Skeletal muscle autophagosome accumulation, Hyper...	OMIM:300257
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Slend...	ORPHA:399103
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Difficulty walking, Congestive he...	ORPHA:98909
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Dilated cardiom...	OMIM:604286
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tip-toe gait, Tibialis anterior...	OMIM:160500
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Coronary Artery Dissection, Spontaneous	Coronary artery dissection, Cystic medial necrosis	OMIM:122455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Biventricular hypertrophy, Proximal muscle weakness, Loss of ambulation, Proximal amyotrophy, Ele...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Proximal muscle weakness in lower limbs, Finger flexor weakness, Distal upper limb muscle weaknes...	ORPHA:63273
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Muscular Dystrophy, Becker Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy, Musc...	OMIM:300376
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormality of the dentition, Abnormal hair morphology, Joint stiffness, Palmoplantar hyperkerato...	OMIM:617756
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Steppage g...	OMIM:600334
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Fatigable weakness of skeletal muscles, D...	ORPHA:206559
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Adult-Onset Nemaline Myopathy	Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, Difficulty walking, Progressive distal muscle weakness, Multip...	ORPHA:98911
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan...	OMIM:612526
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrop...	ORPHA:263494
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Odonto-Onycho Dysplasia-Alopecia Syndrome	Tooth malposition, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal...	ORPHA:2722
Myopathy, Myofibrillar, 6	Muscular dystrophy, Restrictive cardiomyopathy, Tip-toe gait, Lower limb muscle weakness, Myofibr...	OMIM:612954
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Respiratory distress, Myopathy, Decreased body weight, Type 1 fibers rela...	OMIM:300580
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu...	ORPHA:137596
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy, Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness,...	OMIM:619903
Deleted in azoospermia	Azoospermia	OMIM:400003
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Late-onset distal muscle weakness, Dilated cardiomyopathy, Frequent falls, Slend...	OMIM:161800
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco...	OMIM:113900
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Tetrapare...	OMIM:616827
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnorma...	OMIM:609452
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera...	ORPHA:75249
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy, Abnormal oral glucose tolerance	OMIM:311100
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst...	OMIM:217800
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re...	ORPHA:57777
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Sensory ataxia, Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle w...	OMIM:609286
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Difficulty walking, Slender build, Neck muscle we...	ORPHA:171439
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Anonychia With Flexural Pigmentation	Carious teeth, Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morpholog...	ORPHA:69125
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Barth Syndrome	Abnormal mitochondrial morphology, Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Coarctation Of Aorta	Coarctation of aorta	OMIM:120000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Cardiomyopathy, Difficulty walking, Limb-girdle muscle weakness, Hypoglycosyl...	OMIM:609308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253700
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Leg muscle stiffness, Cardiomyopathy, Progressive spastic paraplegia, Difficulty walking, Impaire...	ORPHA:320360
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Myopathy And Diabetes Mellitus	Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Weakness ...	ORPHA:2596
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,...	OMIM:619177
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Transient Neonatal Diabetes Mellitus	Abnormality of the urinary system, Failure to thrive, Maturity-onset diabetes of the young, Umbil...	ORPHA:99886
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent...	OMIM:261740
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Cole Disease	Hyperkeratotic papule, Abnormality of the dentition, Palmoplantar keratoderma, Orthokeratosis, Hy...	OMIM:615522
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Mottled pigmentation, Abnormality of the dentition, Hypermelanot...	ORPHA:79397
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Hereditary Arterial And Articular Multiple Calcification Syndrome	Arterial occlusion, Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Ab...	ORPHA:289601
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Aplasia of the na...	OMIM:601812
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Muscle weakness, Cardiomyopathy, Gowers sign, Tip-toe...	OMIM:310200
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Cardiomyopathy, Proximal muscle weakness, Progressive muscle weakness, C...	ORPHA:98896
Autosomal Recessive Progressive External Ophthalmoplegia	External ophthalmoplegia, Shuffling gait, Cardiomyopathy, Hand muscle weakness, Muscle fiber atro...	ORPHA:254886
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Generalized hyperpigmentation, Hyperkeratosis	ORPHA:2297
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance	ORPHA:34587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Ventricular hypertrophy, Muscular dystrophy, Difficulty walking, Proximal muscle weakness, Proxim...	OMIM:601287
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Natal tooth, Trichorrhexis nodo...	OMIM:617337
Multifocal Atrial Tachycardia	Hypotension, Dyspnea, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyop...	ORPHA:3282
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li...	OMIM:608358
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Arrhythmia, Gait disturbance, ...	OMIM:616516
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Calcification Of Joints And Arteries	Tibial arterial calcification, Femoral arterial calcification, Intermittent claudication, Iliac a...	OMIM:211800
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Odontoonychodermal Dysplasia	Dry hair, Sparse body hair, Follicular hyperkeratosis, Thin nail, Sparse eyebrow, Ridged nail, Ab...	OMIM:257980
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Autosomal Dominant Spastic Paraplegia Type 3	Hyperesthesia, Impaired vibratory sensation, Growth delay, Tip-toe gait, Distal lower limb amyotr...	ORPHA:100984
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, ...	OMIM:252011
Muscular Dystrophy, Congenital, Lmna-Related	Muscle fiber atrophy, Hamstring contractures, Neck muscle weakness, Hip contracture, Proximal mus...	OMIM:613205
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T...	OMIM:618654
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Perifollicular hyperkeratosis	ORPHA:505
Classic Multiminicore Myopathy	Muscular dystrophy, Right ventricular failure, Failure to thrive, Congestive heart failure, Muscl...	ORPHA:324604
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Elevated cir...	ORPHA:171706
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Cardiomyopathy, Proximal muscle weakness, Limb-girdle muscle weakness, Hypogl...	OMIM:615352
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Abnormal calvaria morphology, Dental malocclusion, Fine hair, Downslanted palp...	ORPHA:3079
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Hypertelorism, Dislocated...	OMIM:182212
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Wide nasal bridge, Multiple suture craniosynostosis, Low-set, posteriorly rotated ears, Broad sec...	ORPHA:3369
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr...	ORPHA:263297
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Scapular...	ORPHA:267
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea...	ORPHA:399086
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ophthalmoparesis, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ...	ORPHA:1349
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, ...	OMIM:123500
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Parana Hard Skin Syndrome	Thickened skin, Generalized hyperpigmentation, Generalized hirsutism, Restricted chest movement, ...	ORPHA:2812
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Tachy...	ORPHA:2041
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Shoulder girdle muscle weakness, Diffic...	OMIM:607155
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Postnatal growth retardation...	OMIM:610198
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Decreased cervical spine flexion d...	ORPHA:254361
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Loss of ambula...	OMIM:603511
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98853
Infantile Refsum Disease	Spasticity, Failure to thrive, Cardiomyopathy, Arrhythmia, Progressive muscle weakness, Ataxia, H...	ORPHA:772
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Difficulty walking, Chorea, Myopathy, Hyperkinetic movements, Tru...	ORPHA:369847
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Thoracic aorta calcifica...	ORPHA:402075
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Moyamoya Disease 5	Moyamoya phenomenon, Ascending tubular aorta aneurysm	OMIM:614042
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Hearing impairment, Proptosis, Down...	OMIM:602849
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Mitr...	OMIM:258450
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, General...	OMIM:620285
Ichthyosis, Annular Epidermolytic, 1	Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar hyperkerat...	OMIM:607602
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Co...	OMIM:614823
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Trigonocephaly With Short Stature And Developmental Delay	Low-set ears, Lambdoidal craniosynostosis, Wide nasal bridge, Small for gestational age, Small an...	OMIM:314320
Congenital Myopathy 24	Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, Talipes equinovarus, First deg...	OMIM:617336
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ...	ORPHA:280356
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Tachypnea, At...	ORPHA:26793
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal helix morphology, Alopecia, Synostosis of carpal bones, Low-set, posteriorly rotated ear...	ORPHA:1005
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98855
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Chromosome 5P13 Duplication Syndrome	Low-set ears, Low posterior hairline, Epicanthus, Blepharophimosis, Hypertelorism, High palate, S...	OMIM:613174
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:614096
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Depressed nasal ridge, Proptosis, Retrognathia, Delayed cranial suture closure, Ant...	ORPHA:1832
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Muscular dystrophy, Tip-toe gait, Thoracic scoliosis, Hyperlordosis, Scapular winging, Achilles t...	ORPHA:62
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro...	ORPHA:314811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:616812
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit...	OMIM:310300
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D...	ORPHA:399096
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Chromosome 6Q11-Q14 Deletion Syndrome	Low-set ears, Broad nasal tip, Long philtrum, Umbilical hernia, Micrognathia, Prominent nasal bri...	OMIM:613544
Cardiofaciocutaneous Syndrome	Dry skin, Genu valgum, Excessive wrinkled skin, Low posterior hairline, Epicanthus, Brittle hair,...	ORPHA:1340
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Depressed nasal bridg...	ORPHA:61
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ...	OMIM:606703
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Abnormality of the dentition, Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigm...	ORPHA:79399
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Ankle flexion contracture, Muscular dystrophy, Difficulty walking, Lumbar hyperlordosis, Limb-gir...	OMIM:613818
Menke-Hennekam Syndrome 1	Low-set ears, Hearing impairment, Everted upper lip vermilion, Micrognathia, Deeply set eye, Epic...	OMIM:618332
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Neck muscle weakness, Proximal muscle weakness, Ventricular septal hypertroph...	OMIM:612998
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness...	OMIM:610099
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Oculopharyngodistal Myopathy	Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss, Tibialis mus...	ORPHA:98897
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Generalize...	OMIM:255310
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti...	ORPHA:860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Inability to walk, Calf m...	OMIM:613155
Cortisone Reductase Deficiency 2	Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio...	OMIM:614662
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Rhabdomyolysis, ...	OMIM:618120
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus...	ORPHA:435660
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric...	OMIM:613507
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do...	OMIM:605588
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contracture, Hydrops fe...	OMIM:618815
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Gow...	OMIM:602541
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re...	OMIM:618848
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Frontoocular Syndrome	Low-set ears, Coronal craniosynostosis, Short palpebral fissure, Proptosis, Trigonocephaly, Micro...	OMIM:605321
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Charcot-Marie-Tooth Disease Type 1A	Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Gait imbalance, Kyphoscoliosi...	ORPHA:101081
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Marshall-Smith Syndrome	Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Aspiration pneumonia, ...	OMIM:602535
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Open mouth, Deeply set ey...	OMIM:613604
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g...	OMIM:254130
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Proximal muscle weakness, Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy	OMIM:613158
Polyglucosan Body Myopathy 2	Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe...	OMIM:616199
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar ker...	ORPHA:2251
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Nail dystrophy, Hyperkeratosis	OMIM:607936
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis	ORPHA:1336
Nemaline Myopathy 7	Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Limb m...	OMIM:610687
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Tachypnea, Elevat...	ORPHA:1329
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Facial dipleg...	OMIM:609285
Auriculocondylar Syndrome 2A	Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn...	OMIM:614669
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Pedal edem...	ORPHA:980
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Abnormal heart valve morphology, Wa...	ORPHA:169186
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis	OMIM:617525
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm...	ORPHA:2198
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Open bite, Epicanthus, Cachexia, Blepharophimosis, High palate, Bipa...	ORPHA:85293
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Difficulty walking, Chorea, Myo...	ORPHA:324588
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom...	OMIM:201475
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Coarse hair, Long philtrum, Frontal bossing, Recurrent otitis media, Lymp...	OMIM:605309
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Atrophic scars,...	ORPHA:89838
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st...	ORPHA:79085
Intellectual Developmental Disorder, Autosomal Dominant 26	Low-set ears, Micrognathia, Narrow mouth, Epicanthus, Prominent nasal tip, Hypertelorism, Short p...	OMIM:615834
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Ophthalmoparesis, Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficul...	OMIM:616479
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Frontal bossing, Congenital sensorineural hearing impairment, Micrognathia, Decreased body weight...	OMIM:617306
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea	OMIM:617272
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Hepatomegaly, P...	ORPHA:422
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Chorea, Ophthalmoplegia, Lethargy, Ataxia, Bradykinesia	OMIM:618683
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Palmoplantar hyperk...	ORPHA:38
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:620235
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Narrow mouth, Sensorineural hearing impairment, Decreased body weight, Epicanthus, ...	ORPHA:391408
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Apert Syndrome	Lambdoidal craniosynostosis, Acne, Delayed epiphyseal ossification, Synostosis of carpal bones, H...	OMIM:101200
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Intrauterine growth retardat...	ORPHA:272
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Elevated circ...	OMIM:619048
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Distal Myopathy With Anterior Tibial Onset	Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li...	ORPHA:178400
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Cataract	OMIM:165300
Bethlem Muscular Dystrophy	Difficulty walking, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture...	ORPHA:610
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Low-set ears, Optic atrophy, Depressed nasal ridge, Plagiocephaly, Conductive hearing impairment,...	OMIM:618672
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy...	OMIM:608423
Aymé-Gripp Syndrome	Low-set ears, Limitation of joint mobility, Delayed cranial suture closure, Narrow mouth, Large f...	ORPHA:1272
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Joint contracture of the hand, Micrognathia, Narrow mouth, Joint contracture of the...	ORPHA:352490
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Hypohidrosis, Eclabion, Hyperkeratosis, Congenital nonbullous ic...	OMIM:615023
Multiminicore Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w...	ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Talipes equin...	OMIM:611588
Roussy-Lévy Syndrome	Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb...	ORPHA:3115
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Joint stiffness, Telecanthus, ...	ORPHA:1915
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy, Ataxia	OMIM:208750
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Small for gestational age, Short femoral neck, Inguinal hernia, Decreased body ...	OMIM:618392
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Depressed nasal bridge, Low-set, posteriorly rotated ears, Furrowed tongue, Mi...	ORPHA:1387
Thiel-Behnke Corneal Dystrophy	Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn...	ORPHA:98960
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Dk1-Cdg	Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Congestive heart failure, I...	ORPHA:91131
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy, Steppage gait, Impaired distal tactile sensation, Distal muscl...	OMIM:610100
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Myoclonus,...	OMIM:614299
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Cutis Laxa, Autosomal Recessive, Type Iib	Large fontanelles, Excessive wrinkled skin, Deeply set eye, Hypertelorism, High palate, Osteopeni...	OMIM:612940
Bcard Syndrome	Low-set ears, Abnormality of the dentition, Osteopenia, Coarse hair, Downturned corners of mouth,...	OMIM:612394
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt...	ORPHA:314802
Osteoglophonic Dysplasia	Low-set ears, Chordee, Hypertelorism, High palate, Short nose, Cloverleaf skull, Choanal atresia,...	OMIM:166250
Cutis Laxa, Autosomal Recessive, Type Iiia	Low-set ears, Large fontanelles, Narrow mouth, Low plasma citrulline, Hypertelorism, Sparse hair,...	OMIM:219150
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia	OMIM:616276
Camptodactyly Syndrome, Guadalajara Type 1	Open bite, Narrow mouth, Epicanthus, Blepharophimosis, High palate, Short nose, Downturned corner...	ORPHA:1327
Young Syndrome	Azoospermia	OMIM:279000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Inability to walk, Left ventricular systolic dysfunction, Generalized muscle ...	OMIM:613156
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Weiss-Kruszka Syndrome	Low-set ears, Highly arched eyebrow, Abnormality of the outer ear, Hearing impairment, Downslante...	ORPHA:502430
Cranioectodermal Dysplasia	Abnormality of the dentition, Abnormal fingernail morphology, Abnormal dental enamel morphology, ...	ORPHA:1515
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Nemaline Myopathy 2	Increased variability in muscle fiber diameter, Hand clenching, Slender build, Limb muscle weakne...	OMIM:256030
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl...	ORPHA:71529
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Micrognathia, Narrow mouth, Large fontanelles, Sparse eyelashes, Deeply set eye, Ep...	OMIM:257850
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck...	OMIM:614302
Au-Kline Syndrome	Supernumerary nipple, Open mouth, Sensorineural hearing impairment, High palate, Short nose, Plag...	OMIM:616580
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Unilateral cleft lip, Shagreen patch, Delayed cranial suture closure, Abnormality of the wrist, N...	ORPHA:2511
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa...	ORPHA:370980
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,...	OMIM:248800
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ...	ORPHA:293964
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted na...	ORPHA:228396
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Hepat...	OMIM:602390
Saethre-Chotzen Syndrome	Low-set ears, Hearing impairment, Prominent crus of helix, Open bite, Delayed cranial suture clos...	ORPHA:794
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
17Q21.31 Microduplication Syndrome	Abnormality of the outer ear, Abnormality of the dentition, Failure to thrive, Anteverted nares, ...	ORPHA:217340
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype...	OMIM:619402
Larsen-Like Syndrome	Low-set ears, Dental malocclusion, Conductive hearing impairment, Joint dislocation, Recurrent ot...	OMIM:608545
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Postural hypotension with compensatory tachycardia, Autoamputation of digits, Corneal ...	OMIM:256800
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Left ventricular noncompaction, Tricuspid regurgitation, Reduced left ventr...	OMIM:616501
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Skeletal muscle atrophy, Macrotia, Mic...	ORPHA:2013
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy, Gait ataxia, Muscle weakness	OMIM:253590
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con...	OMIM:615959
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle...	OMIM:118220
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Hearing impairment, Epicanthus, Calvarial hyperostosis, Hypertelorism, Disloca...	OMIM:101800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Ichthyosis, Sparse eyelashes, Oligodontia, Parakeratosi...	OMIM:607626
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Chorea, Muscle fiber atro...	ORPHA:369840
Flynn-Aird Syndrome	Alopecia, Carious teeth, Joint stiffness, Increased bone density with cystic changes, Alopecia of...	OMIM:136300
Alg9-Cdg	Low-set ears, Large fleshy ears, Delayed cranial suture closure, Micrognathia, Low posterior hair...	ORPHA:79328
Ichthyosis, Congenital, Autosomal Recessive 8	Ichthyosis, Orthokeratosis, Hyperkeratosis, Hypergranulosis	OMIM:613943
Rubinstein-Taybi Syndrome 2	Highly arched eyebrow, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Downslant...	OMIM:613684
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Type II diabetes mellitus, Optic disc pallor, Diabetes mellitus, Impaired glucose ...	OMIM:614296
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Underdeveloped nasal alae, Low-set, posteriorly rot...	ORPHA:2471
3Q29 Microduplication Syndrome	Low-set ears, Abnormality of the dentition, Wide nasal bridge, Hearing impairment, Downslanted pa...	ORPHA:251038
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Male hypogonadism, Recurrent otitis media, Nail dystrophy, Premature ovarian insuf...	OMIM:618625
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253601
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98863
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T...	ORPHA:70587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Generalized limb muscle atrophy, Prolonged QT interval, Hypoglycosylation of ...	OMIM:615351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Tip-to...	OMIM:606612
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty...	OMIM:619042
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteopenia, Hyperconvex toenail, Fractures of the long bones, Abnormal hair...	ORPHA:319195
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Cutaneous mastocytos...	OMIM:248910
Non-Distal Duplication 13Q	Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Abnormal fingern...	ORPHA:1702
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Rigidity, Abnormality of extrapyramidal motor function, Talipes equinovarus, Scissor gait...	OMIM:260300
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl...	ORPHA:2593
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Wide nasal bridge, Plagiocephaly, Dental malocclusion, Hearing impairment, S...	OMIM:619149
Marbach-Rustad Progeroid Syndrome	Proptosis, Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Del...	OMIM:619322
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Abnormality of the dentition, Microretrognathia, Upslanted palpebral fissure, Hypot...	ORPHA:276422
Congenital Generalized Lipodystrophy	Insulin resistance, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, ...	ORPHA:528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Micrognathia, Abnormal lower l...	ORPHA:1166
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Woolly hair, Sud...	OMIM:610476
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ...	OMIM:601846
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Hypergran...	OMIM:615598
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt...	OMIM:613204
Cutis Laxa, Autosomal Recessive, Type Iie	Wide nasal bridge, Highly arched eyebrow, Broad nasal tip, Proptosis, Hearing impairment, Long ph...	OMIM:619451
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Increased connect...	OMIM:611307
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Abnormality of skin pigmentation	ORPHA:315
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong...	OMIM:613426
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Kyphosis, Bowing of limbs due to mult...	OMIM:259440
Pycnodysostosis	Carious teeth, Delayed cranial suture closure, Hepatosplenomegaly, Micrognathia, Mild conductive ...	ORPHA:763
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal...	ORPHA:98902
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Sparse eyelashes, Epicanthus, Blepharophimosis, Narrow palpebral fissure, Hypertelo...	OMIM:619293
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Hypohidrosis, Generalized ichthyosis, Hy...	OMIM:612281
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric...	OMIM:115195
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert...	OMIM:540000
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dehydration, Pulmonic stenosis	ORPHA:79159
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Arrhythmi...	OMIM:615084
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:620148
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Bifid uvula, Depressed nasal bridge, Patchy osteosclerosis, Hyperphosphatemia, Long...	OMIM:241410
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Deeply set eye, Patchy alopecia, Horner syndrome,...	OMIM:141300
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Increased mean corpuscular volume, Hearing impairment, Long philtrum, Fron...	ORPHA:261250
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ophthalmoparesis, Skeletal muscle atrophy, Difficulty walking, Respiratory distress, Failure to t...	ORPHA:254875
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory distress, Proximal muscle weakness, Loss of ambulation, Pro...	OMIM:620166
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral demyelination, Limb musc...	OMIM:118200
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Lumbar hypertrichosis, Arthrogryposis multiplex congenita, Epicanthus, Short palpebral fissure, D...	OMIM:618622
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Everted upper lip vermilion, Hearing impairment, Widely spaced teeth, Downslanted p...	OMIM:619056
Roussy-Levy Hereditary Areflexic Dystasia	Distal amyotrophy, Decreased motor nerve conduction velocity, Gait ataxia, Decreased number of pe...	OMIM:180800
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Prominent nose, Deeply set eye, Microcephaly, Anteverted ears, Macrotia, Syn...	OMIM:615541
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr...	OMIM:300696
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Mucolipidosis Type Ii	Dry hair, Limitation of joint mobility, White hair, Hepatosplenomegaly, Hip contracture, Sensorin...	ORPHA:576
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg...	OMIM:620236
Peho Syndrome	Optic atrophy, Limitation of joint mobility, Abnormal upper lip morphology, Gingival overgrowth, ...	ORPHA:2836
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Osteolysis, Ichthyosis, Abnormal toenail morphol...	ORPHA:494
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Limitation ...	ORPHA:3068
Mitochondrial Myopathy With Diabetes	Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle...	OMIM:500002
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, ...	OMIM:615238
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c...	OMIM:616668
Systemic Capillary Leak Syndrome	Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis	ORPHA:188
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Microcephaly-Cardiomyopathy Syndrome	Short stature, Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Hypertrichosis, Postnatal growth retardation, Intrauteri...	OMIM:272440
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Acrocraniofacial Dysostosis	Micrognathia, Genu valgum, Sensorineural hearing impairment, Abnormal toenail morphology, Abnorma...	ORPHA:949
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy, Areflexia of lower limbs	OMIM:165199
Optic Atrophy 2	Optic atrophy, Absent Achilles reflex	OMIM:311050
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Long philtrum, Retrognathia, Trichorrhexis no...	OMIM:619691
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,...	OMIM:300423
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Deeply set eye, Epicanthus, Blephar...	OMIM:614114
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Isotretinoin Syndrome	Abnormality of the outer ear, Depressed nasal bridge, Micrognathia, Hypoplastic toenails, Biparie...	ORPHA:2305
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Cerebellar Ataxia, Cayman Type	Ataxia, Broad-based gait, Skeletal muscle atrophy, Gait ataxia, Hypomimic face, Truncal ataxia, B...	OMIM:601238
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, C...	OMIM:300887
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79281
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Progr...	ORPHA:352447
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp...	OMIM:262700
Caribbean Parkinsonism	Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Orthostatic h...	ORPHA:97355
Arteriosclerosis, Severe Juvenile	Central retinal vessel vascular tortuosity, Calcification of the aorta, Arteriosclerosis, Hyperte...	OMIM:208060
Autosomal Dominant Progressive External Ophthalmoplegia	External ophthalmoplegia, Resting tremor, Limb muscle weakness, Myopathy, Ophthalmoplegia, Arrhyt...	ORPHA:254892
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Orthopnea, Right atrial enlar...	ORPHA:99103
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal helix morphology, Hearing impairment, Open mouth, High palate, Osteopenia, Plagiocephaly...	ORPHA:453499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Muscular dystrophy, Inability to walk, Hypoglycosylation of alpha-dystroglycan, Ataxia, Poor head...	OMIM:615350
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Frontal bossing, Abnormal hair...	ORPHA:3082
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Low-set ears, Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Inguinal herni...	ORPHA:261190
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis	ORPHA:79503
Mosaic Trisomy 14	Wide nasal bridge, Failure to thrive, Camptodactyly of finger, Low-set, posteriorly rotated ears,...	ORPHA:1703
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel...	OMIM:158901
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy	OMIM:609500
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Short stature, Intrauterine growth retardation, Dilated cardiomyopathy	OMIM:618097
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Diaphragmati...	OMIM:604801
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, External ophthalmoplegia, Broad-based gait, Posit...	OMIM:607459
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
19P13.3 Microduplication Syndrome	Low-set ears, Clinodactyly, Micrognathia, Narrow mouth, Ventricular septal defect, Hip dislocatio...	ORPHA:447980
Trigonocephaly 1	High, narrow palate, Wide nasal bridge, Long philtrum, Trigonocephaly, Upslanted palpebral fissur...	OMIM:190440
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Low-set ears, Depressed nasal bridge, Mandibular prognathia, Failure to thrive, Long philtrum, Do...	OMIM:620001
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L...	OMIM:615381
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly...	OMIM:157640
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower...	OMIM:605820
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Crouzon Syndrome	Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Hearing...	ORPHA:207
Intellectual Developmental Disorder, Autosomal Recessive 5	Wide nasal bridge, Eczematoid dermatitis, Underdeveloped nasal alae, Thick upper lip vermilion, P...	OMIM:611091
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Flared nostrils, Micrognathia, Frontal upsweep of hair, Narrow mouth, Hypertelorism...	OMIM:614756
Charcot-Marie-Tooth Disease, Type 4B2	Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexo...	OMIM:604563
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Hearing impairment, Dental crowding, Failure to thriv...	OMIM:610883
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O...	ORPHA:453504
Cardiofaciocutaneous Syndrome 1	Low-set ears, Palpebral thickening, Hearing impairment, Open bite, Micrognathia, Open mouth, Abse...	OMIM:115150
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ...	OMIM:618234
Pfeiffer Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Choanal atresia, Dental crowding, Depressed ...	OMIM:101600
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Hypertrophic Neuropathy Of Dejerine-Sottas	Broad-based gait, Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral demyel...	OMIM:145900
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Streak ovary...	ORPHA:798
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg...	ORPHA:611
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi...	OMIM:614702
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hearing impairment, Fine hair, Downturned corners of mouth, Downslanted palpebral fissures, Micro...	OMIM:616817
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Depressed nasal bridge, Long philtrum, Umbilical hernia, Obesity, Micrognathia, Lar...	ORPHA:171839
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Myositis, Eosinophilia, Proxi...	OMIM:253600
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Propionic Acidemia	Failure to thrive, Hypoglycemia, Cardiomyopathy, Apnea, Cerebellar hemorrhage, Tachypnea, Limb hy...	OMIM:606054
Facioscapulohumeral Muscular Dystrophy 1	Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, External ophthalmoplegia, Skel...	OMIM:158900
Miyoshi Muscular Dystrophy 3	Muscular dystrophy, Distal upper limb muscle weakness, Quadriceps muscle weakness, Quadriceps mus...	OMIM:613319
Lathosterolosis	Hearing impairment, Long philtrum, Downturned corners of mouth, Failure to thrive, Bulbous nose, ...	ORPHA:46059
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Tali...	OMIM:128230
Lipodystrophy, Congenital Generalized, Type 4	Increased variability in muscle fiber diameter, Hyperinsulinemia, Hepatic steatosis, Generalized ...	OMIM:613327
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Skeletal muscle atrophy, Camptodactyly of finger, Multiple lipomas,...	ORPHA:3294
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Thick eyebrow, Radioulnar synostosis, Abnormal rib morphology, Synophrys, Scoli...	ORPHA:3268
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria, Progressive cerebellar ataxia	ORPHA:67046
Foxp1 Syndrome	Hypoplastic helices, Clinodactyly, Prominent fingertip pads, Downturned corners of mouth, Abnorma...	ORPHA:391372
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Proximal muscle wea...	OMIM:608840
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Chromosome 16Q22 Deletion Syndrome	Low-set ears, Highly arched eyebrow, Wide nasal bridge, Depressed nasal bridge, Short palpebral f...	OMIM:614541
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, I...	OMIM:613530
Hadziselimovic Syndrome	Low-set ears, Failure to thrive, Thick lower lip vermilion, Anteverted nares, Prominent nasal bri...	OMIM:612946
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis...	ORPHA:363400
Oculodentodigital Dysplasia	Carious teeth, Hearing impairment, Micrognathia, Deeply set eye, Epicanthus, Curly hair, Brittle ...	ORPHA:2710
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Atresia of the external auditory canal, Downslanted palpebral fissures, Low-set, posteriorly rota...	ORPHA:1770
8P23.1 Microdeletion Syndrome	Low-set ears, Wide nasal bridge, Downslanted palpebral fissures, Obesity, Micrognathia, Prominent...	ORPHA:251071
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Lowry-Maclean Syndrome	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, S...	ORPHA:2409
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Intr...	OMIM:604320
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Prominent ear helix, Alopecia totalis, Ankyloglossia, Micrognathia,...	ORPHA:740
Van Maldergem Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Micrognathia, Irregular dentition, Se...	OMIM:615546
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Micrognathia, Epicanthus, High palate, Hip dislocatio...	ORPHA:96148
Sanjad-Sakati Syndrome	Abnormality of the dentition, Depressed nasal bridge, Patchy osteosclerosis, Hyperphosphatemia, L...	ORPHA:2323
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:151660
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-...	OMIM:608600
Tetraploidy	Hypoplasia of the ear cartilage, Radial club hand, Micrognathia, Microcephaly, Convex nasal ridge...	ORPHA:3305
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkera...	OMIM:212360
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Low-set ears, Broad thumb, Hearing impairment, Overlapping toe, Cryptorchidism, Ventricular septa...	OMIM:617452
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Depressed nasal bridge, Hearing impairment, Long philtrum, Downslanted palpebral fi...	OMIM:601353
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Bradyc...	OMIM:232500
Combined Oxidative Phosphorylation Deficiency 49	Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers	OMIM:619024
Adenylosuccinate Lyase Deficiency	Low-set ears, Flat occiput, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth phi...	ORPHA:46
Coenzyme Q10 Deficiency, Primary, 1	Hypertrophic cardiomyopathy, Myoclonus, Ragged-red muscle fibers, Tremor, Loss of ambulation, Dec...	OMIM:607426
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Pierpont Syndrome	Hearing impairment, Large fleshy ears, Unilateral narrow palpebral fissure, Deeply set eye, Decre...	OMIM:602342
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Absent tragus, Abnormality of the outer ear, Atresia of the external auditory canal...	ORPHA:79113
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Frontotemporal hypertrichosis, Retrognathia, Proptosis, Large fleshy ears, Underdev...	OMIM:263210
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Everted upper lip vermilion, Sparse lateral eyebrow, Hyperplasia of the m...	ORPHA:513456
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Coronal craniosynostosis, Osteopenia, Proptosis, Orbital craniosynosto...	OMIM:112240
Saethre-Chotzen Syndrome	Low-set ears, Lambdoidal craniosynostosis, Hearing impairment, Prominent crus of helix, Delayed c...	OMIM:101400
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Robinow Syndrome, Autosomal Dominant 2	Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hearing impairment, Hypertelor...	OMIM:616331
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Proximal femoral epiphysiolysis, Failure to thrive, Respiratory distress, Me...	OMIM:260400
Fg Syndrome Type 1	Broad-based gait, Finger syndactyly, Clinodactyly of the 2nd finger, Slender build, Micrognathia,...	ORPHA:93932
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H...	ORPHA:99095
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi...	ORPHA:206569
8Q22.1 Microdeletion Syndrome	Low-set ears, Limitation of joint mobility, Abnormal antihelix morphology, Sparse eyelashes, Blep...	ORPHA:178303
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady...	OMIM:300911
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Ventricular bigeminy, Failure to thrive, Glucose intolerance, Limb muscle weakness, Progressive e...	OMIM:610131
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana...	ORPHA:3216
Acrootoocular Syndrome	Low-set ears, Wide nasal base, Atresia of the external auditory canal, Abnormal earlobe morpholog...	ORPHA:2980
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Narrow mouth, Ridged fingernail, Plagiocephaly, Downturned corners ...	ORPHA:2215
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Muscular dystrophy, Skeletal muscle atrophy, Generalized muscle weakness, Proximal muscle weaknes...	OMIM:613723
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Respiratory distress, Tremor, Rigidity, Parkinsonism with favorable response to dopaminerg...	ORPHA:240085
Charcot-Marie-Tooth Disease, Type 4A	Distal amyotrophy, Basal lamina onion bulb formation, CNS hypomyelination, Decreased motor nerve ...	OMIM:214400
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Gitelman Syndrome	Type II diabetes mellitus, Rhabdomyolysis, Ventricular fibrillation, Prolonged PR interval, Gluco...	ORPHA:358
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Short foot, Short metacarpal, Coxa magna, Osteopenia, Avascular necrosis of the capi...	OMIM:190351
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the outer ear, Micrognathia, Narrow mouth, Deeply set eye, Abnormali...	ORPHA:251028
Carey-Fineman-Ziter Syndrome 2	High, narrow palate, Low-set ears, Dental crowding, Velopharyngeal insufficiency, Downturned corn...	OMIM:619941
Toluene Embryopathy	Low-set ears, Short palpebral fissure, Hypoplasia of the zygomatic bone, Micrognathia, Protruding...	ORPHA:1920
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre...	OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Opsismodysplasia	Low-set ears, Depressed nasal bridge, Long philtrum, Frontal bossing, Macrocephaly, Anteverted na...	OMIM:258480
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Obesity, Di...	ORPHA:459033
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis, Flexion contracture	OMIM:168400
Mosaic Trisomy 9	Low-set ears, Limitation of joint mobility, Small nail, Elbow dislocation, Camptodactyly of finge...	ORPHA:99776
1Q44 Microdeletion Syndrome	Frontal bossing, Telecanthus, Micrognathia, Prominent metopic ridge, Exaggerated cupid's bow, Ups...	ORPHA:238769
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly	Low-set ears, Failure to thrive, Secondary microcephaly, Hypotelorism, Epicanthus, Microcephaly, ...	OMIM:616281
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Idiopathic Achalasia	Gastroesophageal reflux, Dysphagia, Weight loss	ORPHA:930
Amyotrophic Lateral Sclerosis 8	Distal amyotrophy, Skeletal muscle atrophy, Fasciculations, Postural tremor, Proximal muscle weak...	OMIM:608627
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb-gir...	ORPHA:206549
Neutral Lipid Storage Myopathy	Difficulty walking, Neck muscle weakness, Myopathy, Hepatomegaly, Gowers sign, Pelvic girdle musc...	ORPHA:98908
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R...	ORPHA:306692
Oculopharyngodistal Myopathy 1	Increased variability in muscle fiber diameter, External ophthalmoplegia, Difficulty walking, Pro...	OMIM:164310
17Q23.1Q23.2 Microdeletion Syndrome	Shallow acetabular fossae, Limitation of joint mobility, Hearing impairment, Narrow mouth, Bilate...	ORPHA:261279
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Malar prominence, Intrauterine growth retardation, Micrognathia, Dysmetria, Hypogonadotro...	ORPHA:48431
Frank-Ter Haar Syndrome	Thickened skin, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Joint stiff...	ORPHA:137834
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Isolated Cleft Lip	Small for gestational age, Conductive hearing impairment, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Proptosis, Limitation of joint mobility, Downslanted palpebral fissures, Low-set,...	ORPHA:457359
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Gastroesophageal reflux, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, ...	ORPHA:1495
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Abnormality of the ovary, Decreased testicular size, Gait disturbance, Kyphosis	ORPHA:1875
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Low-set ears, Retrognathia, Finger clinodactyly, Cryptorchidism, Inguinal hernia, Supernumerary r...	ORPHA:2958
Steinert Myotonic Dystrophy	Neck muscle weakness, Hyperinsulinemia, Proximal muscle weakness, Talipes equinovarus, Ophthalmop...	ORPHA:273
Trichothiodystrophy	Carious teeth, Dry skin, Epicanthus, Neutropenia, Brittle hair, Split nail, Bilateral sensorineur...	ORPHA:33364
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Skeletal muscle atrophy, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Intellectual Developmental Disorder, Autosomal Dominant 7	Small for gestational age, Thick lower lip vermilion, Failure to thrive in infancy, Bulbous nose,...	OMIM:614104
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,...	ORPHA:521406
Monosomy 18Q	Bilateral conductive hearing impairment, Slender build, Open mouth, Sensorineural hearing impairm...	ORPHA:1600
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	ORPHA:268
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Small hand, Muscular dystrophy, Failure to thrive, Upper limb undergro...	OMIM:608799
Intellectual Developmental Disorder, Autosomal Dominant 59	Low-set ears, Highly arched eyebrow, Long philtrum, Facial hypotonia, Protruding ear, Brachydacty...	OMIM:618522
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Eosinophilic infiltration ...	OMIM:615508
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Thin nail...	OMIM:190350
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure, Edema	OMIM:178400
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Postnatal growth retardation, Abnormal external genitalia, Diastasis recti, Poly...	ORPHA:231140
Auditory Neuropathy And Optic Atrophy	Optic atrophy, Rod-cone dystrophy	OMIM:617717
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Third degree atrioventricular block, Ragged-red muscle fibers, Hemiplegi...	ORPHA:480
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Micrognathia, Narrow mouth, Hypertelorism, Short nose, Macrotia, Downslanted ...	OMIM:620250
Nestor-Guillermo Progeria Syndrome	Thin ribs, Micrognathia, Mitral regurgitation, Sparse eyelashes, Limited elbow movement, Right at...	OMIM:614008
Hamamy Syndrome	Low-set ears, Hypochromic anemia, Microcytic anemia, Micrognathia, Sparse eyelashes, Low posterio...	OMIM:611174
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V...	OMIM:143200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:620402
Kabuki Syndrome 2	Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, Decreased bo...	OMIM:300867
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Rhabdomyolysis, Glycogen accumulation in mu...	ORPHA:368
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
16P11.2P12.2 Microdeletion Syndrome	Low-set ears, Microretrognathia, Hearing impairment, Camptodactyly of finger, Downslanted palpebr...	ORPHA:261211
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Low posterior hairline, Hypert...	ORPHA:1520
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic...	OMIM:607855
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Ataxia-Telangiectasia-Like Disorder 2	Absent pubertal growth spurt, Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunct...	OMIM:615919
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Low-set ears, Malar flattening, Joint hypermobility, Amelogenesis imperfect...	OMIM:614727
Hallermann-Streiff Syndrome	Low-set ears, Natal tooth, Dry skin, Micrognathia, Narrow mouth, Sparse eyelashes, Everted lower ...	OMIM:234100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Low-set ears, Metaphyseal cupping, Micromelia, Wide distal femor...	OMIM:613320
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Short ear, Bulbous nose, Anteverted nares, Narrow mouth...	ORPHA:314647
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic atrophy, Optic disc pallor, Pes cavus, Hammertoe	OMIM:618511
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat...	OMIM:618400
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio...	OMIM:104100
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Holoprosencephaly 5	Depressed nasal bridge, Trigonocephaly, Anteverted nares, Upslanted palpebral fissure, Hypotelori...	OMIM:609637
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Frontal balding, Decreased muscle mass, Reduced subcutaneous adipose tissue, Abnormal antihelix m...	ORPHA:3041
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Oxycephaly, Hepatosplenomegaly, Epicanthus, Premature clo...	ORPHA:221054
ERI1-related disease	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Decreased body weight, Epicanthus, Pate...	OMIM:608739
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Dental crowding, Retrognathia, Internally rotated shoulders, Elbow fle...	OMIM:617468
Auriculocondylar Syndrome 1	Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,...	OMIM:602483
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Hypertelorism, Short nose, Sub...	OMIM:614701
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Abnormal helix morphology, Micrognathia, Abnormal antihelix morphology, Deeply set ...	ORPHA:261337
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypotension, Hypoglycemia, Decreased response to growth hormone stimulation test, Pan...	ORPHA:95619
Vitamin D-Dependent Rickets, Type 2A	Wide nasal bridge, Alopecia universalis, Delayed epiphyseal ossification, Carious teeth, Rickets,...	OMIM:277440
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Proptosis, Hearing impairment, Delayed eruption of teeth...	OMIM:619736
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m...	OMIM:617030
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Osteopenia, Failure to thrive...	OMIM:608154
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Childhood-...	OMIM:271630
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Crisponi/Cold-Induced Sweating Syndrome 2	Clinodactyly, Limited elbow extension, Weakness of facial musculature, 2-3 toe syndactyly, Cubitu...	OMIM:610313
Epidermolytic Palmoplantar Keratoderma	Interphalangeal joint contracture of finger, Hypergranulosis, Abnormal fingernail morphology, Dif...	ORPHA:2199
6Q16 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Retrognathia, Bulbous nose, Obesity, Thick eyebrow, Microgn...	ORPHA:171829
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Acne, ...	ORPHA:3000
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tip-toe gait, Knee flexion contracture, Kyphoscoliosis, ...	ORPHA:496689
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Hypoglycemia, Growth delay, Splenomeg...	ORPHA:264580
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac...	OMIM:255800
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Gait imbalance, Li...	ORPHA:329336
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Multifocal Motor Neuropathy	Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak...	ORPHA:641
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Cap Myopathy	Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Sinus t...	ORPHA:171881
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormality of the dentition, Hearing impairment, Fine hair, Joint hypermobility, Decreased head ...	ORPHA:500166
Proximal Spinal Muscular Atrophy	Difficulty walking, Proximal muscle weakness, Atrial septal defect, Dysphagia, Gastroesophageal r...	ORPHA:70
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Prieto Syndrome	Low-set ears, Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Retrognathi...	OMIM:309610
Atrial Septal Defect, Coronary Sinus Type	Dyspnea, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, P...	ORPHA:99104
Holoprosencephaly 7	Hypoplastic nasal septum, Hypoplasia of the premaxilla, Bilateral cleft palate, Hypertelorism, Bi...	OMIM:610828
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Cardiac arrest, Hepatomegaly, Bradycardia	OMIM:618235
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi...	OMIM:618823
Van Maldergem Syndrome 1	Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ...	OMIM:601390
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty...	OMIM:620246
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Leber Congenital Amaurosis 13	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:612712
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Muscle wea...	ORPHA:276580
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Robinow-Sorauf Syndrome	Plagiocephaly, Downslanted palpebral fissures, Bilateral ptosis, Narrow nose, Malar flattening, S...	OMIM:180750
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syn...	OMIM:619705
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Cleft lip, Conductive hearing impairment, Underdeveloped nasal alae, Macrocephal...	ORPHA:398156
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Low-set ears, Osteopenia, Fine hair, High-frequency sensorineural hearing impairment, Frontal bos...	ORPHA:2324
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness	OMIM:159050
Non-Distal Duplication 10Q	Depressed nasal bridge, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Microg...	ORPHA:1695
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb ataxia, Gait a...	OMIM:615157
Lujan-Fryns Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac...	ORPHA:776
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo...	ORPHA:2414
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Microcephaly 5, Primary, Autosomal Recessive	Highly arched eyebrow, Proptosis, Hearing impairment, Microcephaly, Flat occiput	OMIM:608716
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Inab...	ORPHA:99950
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaph...	ORPHA:3409
Orofaciodigital Syndrome Type 6	Highly arched eyebrow, Midline notch of upper alveolar ridge, Conductive hearing impairment, Fail...	ORPHA:2754
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Duplication involving bones of the feet, Optic nerve dysplasia, Abnormality...	OMIM:246000
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nasogastr...	OMIM:618414
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Alopecia, Nail dystrophy	OMIM:616487
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Patellar hypoplasia, Hypogonadism, Micrognathia, Protruding ear, Flexion contracture, Macrotia	OMIM:251240
Parkinson Disease 19A, Juvenile-Onset	Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Parkinsonism, Abno...	OMIM:615528
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss...	ORPHA:435651
Optic Atrophy 9	Optic atrophy, Optic disc pallor	OMIM:616289
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Premature anterior fontanel closure, Plagiocephaly, Proptosis, ...	OMIM:619435
Leukodystrophy, Hypomyelinating, 17	Leukodystrophy, Inability to walk, Kyphoscoliosis, Flexion contracture, Growth delay	OMIM:618006
Koolen-De Vries Syndrome	Dry skin, Open mouth, Pear-shaped nose, Epicanthus, Everted lower lip vermilion, Blepharophimosis...	OMIM:610443
Trisomy 18P	High, narrow palate, Highly arched eyebrow, Wide nasal bridge, Underdeveloped nasal alae, Telecan...	ORPHA:1715
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypoketotic hypoglycemia, Rh...	OMIM:609015
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Distal amyotrophy, Tip-toe gait, Rigidity, Gait disturbance, Bradykinesia, S...	OMIM:615643
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Large fontanelles, ...	OMIM:619512
Carnitine Deficiency, Systemic Primary	Failure to thrive, Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Congestiv...	OMIM:212140
Wilson-Turner Syndrome	Broad nasal tip, Malar prominence, Micrognathia, Thick eyebrow, Deeply set eye, Thin upper lip ve...	ORPHA:3459
Non-Syndromic Bicoronal Craniosynostosis	Proptosis, Hearing impairment, Brachycephaly, Hypertelorism, Metacarpal synostosis	ORPHA:35099
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Decreased testicular size, Cryp...	ORPHA:85279
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Micrognathia, Prominent nasal tip, Narrow palpebral fissure, Hypertelorism, S...	ORPHA:439822
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Inguina...	OMIM:618761
Noonan Syndrome 4	Low-set ears, Depressed nasal bridge, Sparse eyebrow, High anterior hairline, Dental malocclusion...	OMIM:610733
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 28	Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure	OMIM:616794
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Hearing impairment, Long philtrum, Oral-pharyngeal dysphagia, Postnatal growth reta...	ORPHA:480907
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Barth Syndrome	Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Conges...	OMIM:302060
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Hearing impairment, Narrow m...	OMIM:300998
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Flat occiput, Long philtrum, Downslanted palpebral fissures, Thick nasal alae, Micr...	ORPHA:357175
Cardiocranial Syndrome, Pfeiffer Type	Slender finger, Small hypothenar eminence, Cutaneous syndactyly of toes, Contracture of the proxi...	ORPHA:2872
Osteogenesis Imperfecta, Type Xiii	Hearing impairment, Arachnodactyly, Generalized hirsutism, Dislocated radial head, Wide distal fe...	OMIM:614856
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy, Steppage gait	OMIM:604454
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure	ORPHA:91130
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Hypsarrhythmia, Hypertelorism, Abnormal nasopharynx morphology, Splenopancreatic fu...	OMIM:269150
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Absent ...	OMIM:620663
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator...	ORPHA:663
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Myopathy, Short stature, Osteoporosis	ORPHA:408
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Conductive hearing impairment, Atresia of the external auditory canal, Dislocated radial head, Do...	OMIM:602471
Distal Myopathy, Welander Type	Rimmed vacuoles, Difficulty walking, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myo...	ORPHA:603
Lateral Meningocele Syndrome	Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Se...	ORPHA:2789
Intellectual Disability, Birk-Barel Type	High, narrow palate, Highly arched eyebrow, Foot joint contracture, Micrognathia, Open mouth, Ten...	ORPHA:166108
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Palpitations, Mat...	ORPHA:324575
Lig4 Syndrome	Wide nasal bridge, Erythema, Acute leukemia, Abnormality of chromosome stability, Pancytopenia, M...	ORPHA:99812
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tri...	ORPHA:555874
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Downslanted palpebral fissures, Delayed cranial suture closure, Thin calvarium, Micrognathia, Sha...	ORPHA:1129
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s...	ORPHA:79083
Prolidase Deficiency	Erythema, Carious teeth, Hearing impairment, Dry skin, Micrognathia, White forelock, Genu valgum,...	ORPHA:742
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Flat occiput, Downturned corners of mouth, Long philtrum, Downslanted palpebral fis...	OMIM:615162
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal calvaria morphology, Synostosis of carpal bones, Proptosis, Camptodactyly of finger, Joi...	ORPHA:1323
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Muscular dystrophy, Limb-girdle muscle weakness, Gowers sign	OMIM:616094
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Oral mucosal bliste...	OMIM:226650
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes...	ORPHA:98905
Witteveen-Kolk Syndrome	Flared nostrils, Hearing impairment, Hyperplasia of the maxilla, Glue ear, Narrow mouth, Open mou...	OMIM:613406
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transa...	OMIM:232400
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive heart failure	ORPHA:796
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Hypomimic face, Unsteady gait	OMIM:128235
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Hearing impairment, Increased bone mineral dens...	OMIM:239000
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Toenail dysplasia, Hypoplastic fifth fingernail, Absent toenail, Generalized hirsutism, Epicanthu...	ORPHA:1292
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa mo...	ORPHA:1876
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Trisomy 13	Low-set ears, High, narrow palate, Abnormal helix morphology, Abnormality of the middle ear, Abno...	ORPHA:3378
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Intrauterine growth retardation, Scapular winging, Wa...	OMIM:255200
Isolated Succinate-Coq Reductase Deficiency	External ophthalmoplegia, Spasticity, Spastic paraparesis, Generalized muscle weakness, Proximal ...	ORPHA:3208
Moynahan Syndrome	Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Pontocerebellar Hypoplasia, Type 3	Low-set ears, High, narrow palate, Optic atrophy, Depressed nasal bridge, Proptosis, Hearing impa...	OMIM:608027
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Iris cyst	OMIM:620086
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Abnormal heart morphology, Episodic tachypnea, Apnea, Loss of ambulation...	ORPHA:79264
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula...	OMIM:613874
Cinca Syndrome	Hearing impairment, Abnormal joint morphology, Sensorineural hearing impairment, Elevated circula...	ORPHA:1451
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora...	ORPHA:199241
Metatropic Dysplasia	Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic...	ORPHA:2635
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis,...	OMIM:271530
Short Chain Acyl-Coa Dehydrogenase Deficiency	Failure to thrive, Cardiomyopathy, Intrauterine growth retardation, Increased level of methylsucc...	ORPHA:26792
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective...	ORPHA:353
Zimmermann-Laband Syndrome	Facial hypertrichosis, Large fleshy ears, Micrognathia, Sensorineural hearing impairment, Thicken...	ORPHA:3473
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Low anterior hairline, Ptosis, Sagittal craniosynostos...	OMIM:615314
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Velopharyngeal insufficiency, Small nail, Fine hair, Downturned corners of mou...	OMIM:300978
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Keratitis, Long philtrum, Downslanted palpebral fissures, Recurrent otitis med...	OMIM:602562
Raine Syndrome	Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Protru...	OMIM:259775
Bainbridge-Ropers Syndrome	Low-set ears, Supernumerary nipple, Micrognathia, Large fontanelles, Deeply set eye, Epicanthus, ...	OMIM:615485
Frontonasal Dysplasia 1	Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Joint contracture of the hand, Conduc...	OMIM:136760
Dystonia 16	Bradykinesia, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait	ORPHA:210571
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Hypomimic face, Bradykinesia	OMIM:618824
Cardiomyopathy Associated With Myopathy And Sudden Death	Asymmetric septal hypertrophy, Myopathy	OMIM:212130
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Downslanted ...	ORPHA:261295
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Diarrhea, Hypog...	ORPHA:42
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy	OMIM:618992
Periventricular Nodular Heterotopia 7	Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:617201
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Frontal bossing, Micrognathia, Prominent nasal bridge, Upslanted palpeb...	OMIM:619873
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
6P22 Microdeletion Syndrome	Low-set ears, Hearing impairment, Redundant skin, Abnormal palate morphology, Deeply set eye, Hyp...	ORPHA:251046
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Intrauteri...	ORPHA:66634
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Isolated Growth Hormone Deficiency, Type Ia	Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula...	OMIM:262400
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Cardiomyopathy, Limb muscle weakness, Distal sensory impairment, Dyspnea, Global...	OMIM:606842
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int...	ORPHA:388
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at...	OMIM:619542
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormality of the dentition, Periodontitis, Sparse body hair, Melanocytic ...	ORPHA:1008
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Proptosis, Hypopigmented skin patch...	ORPHA:53271
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Hearing impairment, Deeply set eye, Epicanthus, High palate, Platelet anisocytosis, Broad nasal t...	OMIM:620475
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen...	OMIM:151800
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Chorea, Impaired vibration sensation at ankles, Splenomeg...	OMIM:300842
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m...	OMIM:620438
Warburg Micro Syndrome 1	Low-set ears, Facial hypertrichosis, Hypertrichosis, Macrotia, Overlapping toe, Micrognathia, Nar...	OMIM:600118
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance	OMIM:614807
2Q23.1 Microduplication Syndrome	Abnormality of the outer ear, Highly arched eyebrow, Abnormality of the dentition, Dental crowdin...	ORPHA:313947
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Small nail, Supernumerary nipple, Congenital diaphragmatic hernia, Deeply set eye, ...	OMIM:612530
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Shuffling gait, Decreased muscle mass, Kyphoscoliosis, Atlantoaxial abnormality, Short stature	ORPHA:3433
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Low-set ears, Sparse eyebrow, Mandibular prognathia, Hearing impairment, Downslanted palpebral fi...	OMIM:619989
Peeling Skin Syndrome 6	Parakeratosis, Orthokeratosis	OMIM:618084
Weaver Syndrome	Retrognathia, Fine hair, Long philtrum, Low-set, posteriorly rotated ears, Abnormal fingernail mo...	ORPHA:3447
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Kyphoscoliosis, Beaking of vertebral bodies, Short stature, Wad...	OMIM:616583
Braddock Syndrome	Preaxial hand polydactyly, Intrauterine growth retardation, Micrognathia, Congenital muscular tor...	ORPHA:52047
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Optic atrophy, Coarse hair, Proptosis, Downturned corners of mouth, Low-set, pos...	ORPHA:1185
Marshall-Smith Syndrome	Optic atrophy, Choanal atresia, Conductive hearing impairment, Retrognathia, Proptosis, Failure t...	ORPHA:561
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Failure to thrive, Intrauterine growth retardation, Hamstring cont...	ORPHA:96183
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Abnormality of the dentition, Osteopenia, Hearing impairment, Hypogonadotropic hypogonadism, Oste...	OMIM:615269
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia	OMIM:614654
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Apnea, Hypertonia, Rigidity	OMIM:613869
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Hypoplastic nasal bridge, Retrognathia, Long philtrum, Downslanted palpebral fissures, ...	OMIM:620510
Catel-Manzke Syndrome	Highly arched eyebrow, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low...	ORPHA:1388
Isolated Atp Synthase Deficiency	Spastic paraplegia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Op...	ORPHA:254913
Epithelial Recurrent Erosion Dystrophy	Corneal erosion	OMIM:122400
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Erythrokeratodermia Variabilis	Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Patchy palmoplantar hyperkeratos...	ORPHA:317
Trichothiodystrophy 3, Photosensitive	Low-set ears, Carious teeth, Natal tooth, Hearing impairment, Failure to thrive, Trichorrhexis no...	OMIM:616395
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Abnormality of the dentition, Microretrognathia, Limitation of joint mobility, Camptodactyly of f...	ORPHA:2994
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu...	OMIM:254090
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Hepatosplenom...	ORPHA:367
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Hypomimic face, Bradykinesia	ORPHA:71517
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Capitate-hamate fusion, Proptosis, Hearing impairmen...	OMIM:614078
Atypical Rett Syndrome	Small hand, Spasticity, Involuntary movements, Impaired pain sensation, Abnormal pattern of respi...	ORPHA:3095
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Low-set ears, Depressed nasal bridge, Proptosis, Downturned corners of mouth, Micrognathia, Narro...	OMIM:620029
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Cleft lip, Palmoplantar keratoderma, Keloids, Sparse body hair, C...	ORPHA:2890
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Diffi...	ORPHA:401768
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Depressed nasal bridge, Umbilical he...	OMIM:608328
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Persistent fetal ...	ORPHA:363705
Hypoplastic Left Heart Syndrome 1	Coarctation of aorta	OMIM:241550
Hennekam-Beemer Syndrome	Erythema, Hearing impairment, Delayed cranial suture closure, Micrognathia, Long nose, High palat...	ORPHA:2135
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los...	ORPHA:2348
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash...	ORPHA:163934
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Gastroesophageal reflux, Failure to thrive, Campt...	OMIM:614399
Cutis Laxa, Autosomal Recessive, Type Iia	Low-set ears, Carious teeth, Narrow mouth, Excessive wrinkled skin, Brittle hair, High palate, Sh...	OMIM:219200
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty...	ORPHA:596
Hajdu-Cheney Syndrome	Low-set ears, Micrognathia, Narrow mouth, Genu valgum, Absent frontal sinuses, Crowded carpal bon...	OMIM:102500
Spinocerebellar Ataxia, Autosomal Recessive 32	Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticoll...	OMIM:619862
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Hearing impairment, Micrognathia, Epicanthus, Blepharophimosis, Hypertelorism, High...	OMIM:613792
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic...	ORPHA:363417
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Anteverted nares, Hearing abnormali...	ORPHA:2031
Leber Optic Atrophy And Dystonia	Spasticity, Skeletal muscle atrophy, Upper motor neuron dysfunction, Bradykinesia, Athetosis	OMIM:500001
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Wide nasal bridge, Optic atrophy, Anteverted nares, Abnormality of retinal pigmentation, Protrudi...	ORPHA:2518
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Low-set ears, High anterior hairline, Muscular ventricular septal defect, Single transverse palma...	OMIM:620062
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Small hand, Shuffling gait, Spastic gait, Resting tremor, Spastic tetraplegia...	OMIM:300055
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy, Ataxia	OMIM:619688
Chromosome 10Q26 Deletion Syndrome	Low-set ears, Small scrotum, Broad-based gait, Toe syndactyly, Small nail, Postnatal growth retar...	OMIM:609625
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Increased variability in muscle fiber diameter, Ophthalmoparesis, D...	ORPHA:70595
Chromosome 6Q24-Q25 Deletion Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Tricuspid regurgitation, Respiratory distress, ...	OMIM:612863
Momo Syndrome	Wide nasal base, Thick upper lip vermilion, Epicanthus, Abnormal bone ossification, Hypertelorism...	ORPHA:2563
19P13.12 Microdeletion Syndrome	Low-set ears, Sensorineural hearing impairment, Generalized hirsutism, Epicanthus, Hypertelorism,...	ORPHA:254346
Gaucher Disease, Type Iiic	Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Mitral valve calcification	OMIM:231005
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Marinesco-Sjögren Syndrome	Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, ...	ORPHA:559
Frontometaphyseal Dysplasia 1	Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Sensorineural hear...	OMIM:305620
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Conical tooth, Small nail, Widely spaced teeth, Hypoplastic toenails, Spar...	OMIM:613573
Weyers Acrofacial Dysostosis	Conical tooth, Prominent antihelix, Small nail, Hypotelorism, Solitary median maxillary central i...	OMIM:193530
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Central hypothyroidism, Hypoglycemia, Decreased serum te...	ORPHA:453533
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Craniosynostosis, Herrmann-Opitz Type	Short nose, Micrognathia, Malar flattening, Abnormal antihelix morphology, Turricephaly, Brachyce...	ORPHA:2145
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Hearing impairment, Small nail, Micrognathia, Narrow mouth, Deeply set eye, Low pos...	OMIM:309590
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Gastroesophageal reflux, Retrognathia, Long philtrum, Cryptorchidism, Join...	OMIM:619595
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive e...	ORPHA:240103
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Mitral regurgitation, Premature arteriosclerosis, Calcif...	ORPHA:391665
Aorto-Ventricular Tunnel	Abnormal heart valve morphology, Heart murmur, Ventricular hypertrophy, Congestive heart failure	ORPHA:3400
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Sprengel a...	ORPHA:40
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Small nail, Velopharyngeal insufficiency, Microgn...	OMIM:617746
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Intellectual Disability And Myopathy Syndrome	Atopic dermatitis, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Limited elbo...	OMIM:619719
Sengers Syndrome	Osteopenia, Hypertrophic cardiomyopathy, Myopathy, Premature ovarian insufficiency, Pulmonary art...	OMIM:212350
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive, Tachypnea, Pulmonary arterial hypertension, Lethargy, Atri...	OMIM:614857
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Weight loss, Keratocon...	OMIM:617321
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi...	OMIM:609115
Hydrops Fetalis, Nonimmune	Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:236750
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity	OMIM:608470
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy...	ORPHA:542323
C Syndrome	Limitation of joint mobility, Micrognathia, Congenital diaphragmatic hernia, Epicanthus, Dislocat...	ORPHA:1308
Intellectual Developmental Disorder, Autosomal Dominant 21	Low-set ears, Long philtrum, Long eyelashes, Narrow mouth, Cryptorchidism, Single transverse palm...	OMIM:615502
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Muscular dystrophy, Generalized muscle weakness	OMIM:613152
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Failure to t...	OMIM:613752
Hyaline Fibromatosis Syndrome	Low-set ears, Osteopenia, Thickened skin, Gingival overgrowth, Progressive flexion contractures, ...	OMIM:228600
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Neoplasm of the oral cavity, Abnormal fingernail morphology...	ORPHA:525
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Pancreatic aden...	ORPHA:79501
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Leg muscle stiffness, Restin...	ORPHA:391411
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Joint stiffness, Micrognathia, Reduced bone ...	ORPHA:1979
Larsen Syndrome	Depressed nasal bridge, Short nail, Conductive hearing impairment, Hearing impairment, Cleft uppe...	OMIM:150250
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Johnson Neuroectodermal Syndrome	Choanal atresia, Alopecia, Carious teeth, Conductive hearing impairment, Atresia of the external ...	ORPHA:2316
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Cryptorchidism, Talipes equinovarus, Micropenis, Large hands, High palate, Short fo...	OMIM:300534
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Low-set ears, Carious teeth, Excessive wrinkled skin, Hypertelorism, High palate, Sparse hair, Sh...	ORPHA:357074
Bohring-Opitz Syndrome	Low-set ears, Supernumerary nipple, Micrognathia, Narrow mouth, Bilateral cleft palate, Epicanthu...	OMIM:605039
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Underdeveloped nasal alae, Anteverted nares, Deeply set eye, Macrocephaly, Flexion contracture, M...	OMIM:612138
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:52416
Microcephaly 6, Primary, Autosomal Recessive	Bifid nasal tip, Hypertelorism, Microcephaly, Microtia	OMIM:608393
Craniosynostosis 1	Frontal bossing, Oxycephaly, Scaphocephaly, Prominent occiput, Turricephaly, Dolichocephaly, Sagi...	OMIM:123100
Mandibuloacral Dysplasia Progeroid Syndrome	Delayed cranial suture closure, Generalized lipodystrophy, Micrognathia, Narrow mouth, Genu valgu...	OMIM:619127
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Corneal scarring, Pes cavus, Knee flexion contracture, Recurrent corneal erosions, Ker...	OMIM:148210
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Severe short stature, Intrauterine growth retardation, Hypoglycemia	OMIM:223500
Suleiman-El-Hattab Syndrome	Low-set ears, Clinodactyly, Hearing impairment, Cryptorchidism, Ventricular septal defect, Atrial...	OMIM:618950
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Donnai-Barrow Syndrome	Depressed nasal bridge, Proptosis, Downslanted palpebral fissures, Umbilical hernia, Short nose, ...	ORPHA:2143
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Multiple joint contractures, Parakeratosis,...	ORPHA:100976
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Depressed nasal bridge, Long philtrum, Short nose, Thin upper lip vermilio...	ORPHA:438178
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Atrophic scars, Myopathy, Elevated circulating cr...	OMIM:616471
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Hypertelorism, High palate, Chronic otitis media, Wide nose, Flat oc...	OMIM:614188
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Hypertelori...	OMIM:611209
Andersen-Tawil Syndrome	Small hand, Polymorphic and polytopic ventricular extrasystoles, Periodic hypokalemic paresis, To...	ORPHA:37553
Burn-Mckeown Syndrome	Bifid uvula, Mandibular prognathia, Conductive hearing impairment, Hearing impairment, Cleft uppe...	OMIM:608572
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec...	OMIM:616866
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr...	OMIM:616470
Kondoh Syndrome	Atopic dermatitis, Interphalangeal joint contracture of finger, Long philtrum, Thick eyebrow, Pea...	OMIM:606242
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy...	ORPHA:1878
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Oligohydramnios, ...	ORPHA:1194
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Tachypnea, Secund...	OMIM:620203
Glycogen Storage Disease Ii	Firm muscles, Dyspnea, Sinus tachycardia, Difficulty walking, Limb muscle weakness, Splenomegaly,...	OMIM:232300
14Q11.2 Microdeletion Syndrome	Highly arched eyebrow, Depressed nasal bridge, Sparse lateral eyebrow, Long philtrum, Low-set, po...	ORPHA:261120
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Hypotelorism, Epicanthus, Microcephaly, ...	OMIM:615760
Abruzzo-Erickson Syndrome	Hearing impairment, Macrotia, Protruding ear, Radioulnar synostosis, Short stature, Hypospadias, ...	OMIM:302905
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276575
Trichothiodystrophy 4, Nonphotosensitive	Sparse hair, Microcornea, Trichorrhexis nodosa, Decreased fertility, Nail dystrophy, Sparse eyela...	OMIM:234050
Spinocerebellar Ataxia Type 1	Progressive cerebellar ataxia, Ophthalmoparesis, Skeletal muscle atrophy, Fasciculations, Chorea,...	ORPHA:98755
Monilethrix	Abnormality of the dentition, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular...	ORPHA:573
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotra...	OMIM:245400
Triosephosphate Isomerase Deficiency	Spasticity, Skeletal muscle atrophy, Failure to thrive, Congestive heart failure, Respiratory dis...	OMIM:615512
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip...	OMIM:157980
Eiken Syndrome	Epiphyseal dysplasia, Delayed epiphyseal ossification, Abnormal fingertip morphology, Limited elb...	ORPHA:79106
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Tremor, Rigidity, Limb hypertonia, Hypomimic face, Bradykinesia, Growth delay, Sm...	ORPHA:70594
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Umbilical hernia, Hypothermia, Feeding difficulties in infancy, Cons...	ORPHA:95717
Intellectual Developmental Disorder, Autosomal Recessive 46	Growth delay, Widely spaced teeth, Protruding ear, Ataxia, Short stature, Mandibular prognathia, ...	OMIM:616116
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of retinal pigmentation...	ORPHA:3019
Foxg1 Syndrome	Difficulty walking, Inability to walk, Decreased body weight, Kyphoscoliosis, Severe postnatal gr...	ORPHA:561854
Hao-Fountain Syndrome	Low-set ears, Trigonocephaly, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Ifap Syndrome 2	Cataract, Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular cheilitis, Keratoco...	OMIM:619016
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Clinodactyly, Premature graying of hair, Elbow flexion contracture, Hypo...	OMIM:616200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle ...	OMIM:600462
Generalized Eruptive Keratoacanthoma	Ectropion, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Hearing abnormality, Abnormal palate morphology, Pro...	ORPHA:3270
Cherubism	Broad jaw, Abnormality of the dentition, Optic atrophy, Proptosis, Abnormal mandible morphology, ...	ORPHA:184
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Zechi-Ceide Syndrome	Low-set ears, Wide nasal bridge, Abnormal helix morphology, Cleft lip, Conductive hearing impairm...	ORPHA:217017
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Coffin-Siris Syndrome 12	Low-set ears, Small nail, Velopharyngeal insufficiency, Delayed cranial suture closure, Micrognat...	OMIM:619325
Aids Wasting Syndrome	Abnormal gonadotropin-releasing hormone concentration, Cachexia, Weight loss, Skeletal muscle atr...	ORPHA:90081
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Aplasia/Hypoplasia invo...	ORPHA:1529
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Hypophosphatasia, Childhood	Carious teeth, Proptosis, Elevated plasma pyrophosphate, Premature loss of primary teeth, Dolicho...	OMIM:241510
Trichothiodystrophy 1, Photosensitive	Cataract, Microcornea, Fine hair, Trichorrhexis nodosa, Hypogonadism, Tiger tail banding, Absence...	OMIM:601675
Clouston Syndrome	Abnormality of the dentition, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, ...	OMIM:129500
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Distal sens...	OMIM:617225
Global Developmental Delay With Or Without Impaired Intellectual Development	Low-set ears, Plagiocephaly, Bulbous nose, Hypotelorism, Oligodontia, Thin upper lip vermilion, L...	OMIM:618330
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Broad nasal tip, Short palpe...	OMIM:620157
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Distal amyotrophy, Bradykinesia, Fasciculations, Postur...	OMIM:183090
Fanconi Anemia, Complementation Group S	Chromosome breakage, Dental malocclusion, Failure to thrive, Underdeveloped nasal alae, Thick upp...	OMIM:617883
Liberfarb Syndrome	Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap...	OMIM:618889
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased connective tissue, ...	OMIM:226670
Barber-Say Syndrome	Low-set ears, Hearing impairment, Velopharyngeal insufficiency, Dry skin, Micrognathia, Sparse ey...	OMIM:209885
Cri-Du-Chat Syndrome	Low-set ears, Hearing impairment, Premature graying of hair, Epicanthus, Hypertelorism, High pala...	OMIM:123450
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Proximal muscle weak...	ORPHA:370959
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont...	ORPHA:536516
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Optic atrophy, Osteopenia, Dental malocclusion, Failure to thrive, Contractures of the large join...	ORPHA:329178
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Congestive heart failure	OMIM:613313
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	ORPHA:99901
Spastic Paraplegia 43, Autosomal Recessive	Optic atrophy, Ankle flexion contracture, Knee flexion contracture, Pes cavus	OMIM:615043
Temple Syndrome	Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Hypertrigly...	OMIM:616222
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2	Optic atrophy	OMIM:620569
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Long Qt Syndrome 10	Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card...	OMIM:611819
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, High anterior hairline, Carious teeth, Dental malocclusion, Velopha...	ORPHA:363444
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Systolic heart mur...	ORPHA:2299
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Broad thumb, Insulin-resistant diabetes mellitus, Over...	ORPHA:293967
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis	ORPHA:93304
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Muscular Dystrophy, Congenital, With Rapid Progression	Muscular dystrophy, Muscle weakness	OMIM:254100
20Q11.2 Microduplication Syndrome	Tented philtrum, Epicanthus, Thickened ears, Short nose, Downslanted palpebral fissures, Low-set,...	ORPHA:363659
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-l...	OMIM:259420
Merrf	Ragged-red muscle fibers, Myopathy, Multiple lipomas, Ataxia, Short stature	ORPHA:551
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Difficulty walking, Generalized muscle weakness, Orthopnea, Hepatomeg...	ORPHA:365
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Shashi-Pena Syndrome	Low-set ears, Highly arched eyebrow, Broad nasal tip, Cupped ear, Retrognathia, Proptosis, Hypert...	OMIM:617190
Epidermolysis Bullosa Dystrophica, Pretibial	Atrophic scars, Hyperkeratosis, Nail dystrophy	OMIM:131850
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Recurrent hypoglycemia, Postnatal growth retardation, Splenomegaly, Rhab...	ORPHA:79240
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
7Q11.23 Microduplication Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingual frenulum, Congenital...	ORPHA:96121
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Open mouth, Mu...	OMIM:176920
White-Kernohan Syndrome	Low-set ears, Recurrent otitis media, Broad medial eyebrow, Epicanthus, Short nose, Macrotia, Sho...	OMIM:619426
3M Syndrome	Thin ribs, Decreased fertility, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Abn...	ORPHA:2616
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Patchy alopecia, Hyperkeratosis, Scarring	OMIM:247100
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Sparse body hair, Congen...	OMIM:602032
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Progressive cerebellar ataxia, Somatic sensory dysfunction, Lower limb muscle weakness, Lower lim...	ORPHA:1177
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Highly arched eyebrow, Dental crowding, Retrognathia, Thick lower lip vermilion, Pe...	OMIM:618342
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia	OMIM:266500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Proptosis, Anteverted nares, Micrognathia, Large fontanelles, Hyperostosis, Shallow orbits, Abnor...	ORPHA:73230
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Atrophic scars, Facial hypotonia, Inguinal hernia, Mitral regurgi...	OMIM:615539
Atelis Syndrome 1	Carious teeth, Irregular hyperpigmentation, Eczematoid dermatitis, Long philtrum, Downslanted pal...	OMIM:620184
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose	OMIM:155050
Richieri-Costa/Guion-Almeida Syndrome	Hearing impairment, Cleft upper lip, Downslanted palpebral fissures, Malar flattening, Hypotelori...	OMIM:268850
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Abnormal mitral valve morphology, Sensorineural hearing im...	ORPHA:192
Congenital Myopathy 22A, Classic	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, External...	OMIM:620351
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ...	OMIM:314400
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De...	ORPHA:1452
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Gingival over...	ORPHA:2200
Coffin-Lowry Syndrome	Thick nasal septum, Hearing impairment, Open mouth, Sensorineural hearing impairment, Decreased b...	OMIM:303600
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Hirsutism, Generalized...	OMIM:277950
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Disproportionate short stature, Abnormal epiphysis morphology, Cari...	ORPHA:2501
Trisomy 1Q	Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the nails, Microretrognathia, D...	ORPHA:261344
Citrullinemia Type I	Spasticity, Failure to thrive, Ankle clonus, Tachypnea, Lethargy, Torticollis, Ataxia, Slurred sp...	ORPHA:247525
Distal Deletion 17Q	Optic atrophy, Aplasia/Hypoplasia of the uvula, Low-set, posteriorly rotated ears, Melanocytic ne...	ORPHA:1597
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture	ORPHA:157973
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hearing impairment, Macrotia, Low-set, posteriorly rotated ears, Abnormal fingerna...	ORPHA:2701
Truncus Arteriosus	Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati...	ORPHA:3384
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Optic atrophy, Depressed nasal bridge, Proptosis, Failure to thrive, Large earlobe, Tented upper ...	OMIM:618346
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Malar flattening, Upslanted ...	OMIM:616108
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Low-set ears, Downturned corners of mouth, Hypotelorism, Microcephaly, EEG abnormality, Frontal b...	OMIM:618718
Trichorhinophalangeal Syndrome Type 1	Shortening of all phalanges of fingers, Micrognathia, Sparse eyelashes, High palate, Sparse hair,...	ORPHA:77258
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Ataxia, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal scarring, Corneal ulceration	OMIM:616488
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Short stature, Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers	OMIM:616209
Phelan-Mcdermid Syndrome	Cellulitis, Toenail dysplasia, Hearing impairment, Micrognathia, Deeply set eye, Epicanthus, Hype...	OMIM:606232
Clark-Baraitser Syndrome	Low-set ears, Epicanthus, Narrow palpebral fissure, Hypertelorism, High palate, Short nose, Downt...	OMIM:617752
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai...	ORPHA:98762
Pyruvate Dehydrogenase Deficiency	Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Intrauterine...	ORPHA:765
Smith-Lemli-Opitz Syndrome	Micrognathia, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Epicanthus, Hype...	ORPHA:818
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Hypospadias, Gastroesophageal reflux, Dental crowding, Finger syndacty...	ORPHA:435938
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Difficulty walking, Peripheral demyelination, Kyphoscoliosis, Ataxia	OMIM:616684
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Micrognathia, Reduced subcut...	ORPHA:280365
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Low-set, posteriorly rotated ears, Hypogonadism, Genu valgum, Reduce...	ORPHA:2983
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Intellectual Developmental Disorder, Autosomal Dominant 43	Wide nasal bridge, Failure to thrive, Umbilical hernia, Anteverted nares, Gingival overgrowth, Na...	OMIM:616977
Acrofrontofacionasal Dysostosis 2	Low-set ears, Proptosis, Downslanted palpebral fissures, Redundant neck skin, Microcephaly, Brach...	OMIM:239710
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Failure to thrive, Hypertrophic cardiomyopathy, Respiratory distress, Heart murmur, Proximal musc...	ORPHA:308552
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Micrognathia, Large fontanelles, Epican...	OMIM:300373
Fibromuscular Dysplasia, Arterial	Stroke, Arterial fibromuscular dysplasia, Aortic dissection	OMIM:135580
Congenital Fiber-Type Disproportion Myopathy	Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m...	ORPHA:2020
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Seckel Syndrome 1	Low-set ears, Hip dislocation, Dental malocclusion, Dental crowding, Selective tooth agenesis, Di...	OMIM:210600
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Atrial Septal Defect 4	Coarctation of aorta	OMIM:611363
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Alopecia, Orthokeratosis, Small nail, Cleft upper lip, Congenital ich...	OMIM:308050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Advanced ossification of carpal bones,...	OMIM:618363
Perlman Syndrome	Low-set ears, High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal upper lip morphology...	ORPHA:2849
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc...	OMIM:619065
Progeroid Syndrome, Petty Type	Abnormal hair morphology, Reduced subcutaneous adipose tissue, Decreased skull ossification, Gene...	ORPHA:2963
Chung-Jansen Syndrome	Long philtrum, Large earlobe, Short nose, Obesity, Thick eyebrow, Micrognathia, Anteverted nares,...	OMIM:617991
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions	OMIM:618767
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Hypertrichosis, Bilateral single transverse palmar creases, Protruding ear, Gait disturbance, Ata...	ORPHA:85317
Kagami-Ogata Syndrome	Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Diastasis recti,...	OMIM:608149
Short Syndrome	Low-set ears, Micrognathia, Reduced subcutaneous adipose tissue, Sensorineural hearing impairment...	OMIM:269880
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thickened skin, Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal jo...	OMIM:259600
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Hip contracture, De...	OMIM:193700
Takenouchi-Kosaki Syndrome	Low-set ears, Flared nostrils, Sensorineural hearing impairment, Hypertelorism, Sparse eyebrow, D...	OMIM:616737
Isolated Sedoheptulokinase Deficiency	Hepatitis, Abnormality of globe location, Large fontanelles, Inguinal hernia, Hypotelorism, Shall...	ORPHA:440713
Ogden Syndrome	Low-set ears, High, narrow palate, Microretrognathia, Proptosis, Everted upper lip vermilion, Fin...	ORPHA:276432
Lelis Syndrome	Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Vitiligo, Perioral hyperpig...	ORPHA:140936
Mitochondrial Dna-Associated Leigh Syndrome	Ophthalmoparesis, Spasticity, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopa...	ORPHA:255210
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Proptosis, Low-set, posteriorly rotated ears, Narrow mouth, Thin vermilion border, Reduced bone m...	ORPHA:2370
Amyotrophy, Hereditary Neuralgic	Low-set ears, Depressed nasal bridge, Long nasal bridge, Brachial plexus neuropathy, Narrow mouth...	OMIM:162100
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Small nail, Dry skin, Micrognathia, Narrow mouth, Reduced subcutaneous...	OMIM:264090
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Waddl...	OMIM:609524
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Long eyebrows, Clinodactyly of the 5th finger, Glucose...	OMIM:614407
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Optic atrophy, Hypoplasia of the maxilla, Bulbous nose, Thick eyebrow, Upslanted palpebral fissur...	OMIM:618737
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Scoliosis, Moyamoya phenomenon, Hypertrophic cardiomyopathy...	ORPHA:51
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Gastroesophageal reflux, Vomiting, Failure to thrive, Eosinophilic microabscess formation in the ...	ORPHA:411696
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ...	OMIM:616710
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia...	OMIM:235200
Mehmo Syndrome	Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Difficult...	OMIM:300148
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Intrauterine growth retardation, Bowing of the long bones, Pulmonary ar...	OMIM:619751
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Low-set ears, Microcephaly, Failure to thrive, Hypotelorism	ORPHA:477673
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Micromelia, Jo...	ORPHA:1801
Overlap Myositis	Proximal muscle weakness in upper limbs, Finger swelling, Perifascicular muscle fiber atrophy, Rh...	ORPHA:206572
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Micrognathia, Large fontanelle...	ORPHA:2097
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Progressive extern...	OMIM:530000
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nai...	OMIM:224750
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Failure to thrive, Patellar hypoplasia, Abnormal hemidiaphragm mor...	ORPHA:2257
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow, Cleft palate	OMIM:600331
Hereditary Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I...	ORPHA:432
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Alopecia, Skull asymmetry, Downslanted palpebral fissures, Short nose, Anteverted n...	OMIM:601853
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Abnormal hip bone morphology, Inguinal hernia, Generalized hirsutism, Protruding ear, Abnormal ha...	ORPHA:2508
Scorpion Envenomation	Hemifacial spasm, Hyperglycemia, Rhabdomyolysis, Premature ventricular contraction, Arrhythmia, T...	ORPHA:466677
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac...	OMIM:619167
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Recon Progeroid Syndrome	Dry skin, Prominence of the premaxilla, Deeply set eye, Absent lower eyelashes, Attached earlobe,...	OMIM:620370
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Bifid uvula, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, ...	OMIM:618089
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Forsythe-Wakeling Syndrome	Low-set ears, Short stature, Osteoporosis, Growth delay, Macrotia	OMIM:613606
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Secondary microcephaly, Frontal upsweep of hair, Nar...	OMIM:608156
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc...	ORPHA:457050
Cockayne Syndrome A	Dry hair, Carious teeth, Limitation of joint mobility, Dry skin, Reduced subcutaneous adipose tis...	OMIM:216400
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Frontonasal Dysplasia 2	Low-set ears, Alopecia totalis, Sparse eyelashes, Aplasia of the nasal bone, Blepharophimosis, Hy...	OMIM:613451
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Low-set ears, Broad thumb, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atri...	ORPHA:329224
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Olmsted Syndrome 2	Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contr...	OMIM:619208
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Mi...	OMIM:245600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Joint hypermobility, Delayed pub...	OMIM:616033
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Fl...	OMIM:251450
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Ventricular septal defect, Hypoplasia of the diaphragm, Atrial...	ORPHA:185
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Broad-based gait, Cardiomyopathy, Difficulty walk...	ORPHA:119
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir...	ORPHA:179
High Altitude Pulmonary Edema	Pulmonary edema, Tachycardia	ORPHA:330012
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Ectopic calcification, Gonadal calcification, Calcification of the aor...	ORPHA:60025
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Narrow mouth, Hypertelorism, Abnormality of the nail, Cloverl...	ORPHA:1555
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia, Increased groin pigmentation with raindrop d...	OMIM:188150
Spinal Muscular Atrophy, Ryukyuan Type	Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis	OMIM:271200
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Pyle Disease	Platyspondyly, Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption o...	OMIM:265900
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Congenital contracture, Secondary microcephaly, Micrognathia, Hypotelorism, Elevat...	OMIM:615042
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Darwin tubercle of helix, Prominent antihelix, Prominent fingertip pads, Retrognathia, Protruding...	OMIM:615722
Intellectual Developmental Disorder, Autosomal Recessive 13	Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Secondary microcephaly, Hypotelo...	OMIM:613192
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul...	ORPHA:83451
Trichorhinophalangeal Syndrome Type 2	Genu valgum, Bilateral single transverse palmar creases, Cone-shaped epiphyses of the phalanges o...	ORPHA:502
Frank-Ter Haar Syndrome	Low-set ears, Delayed cranial suture closure, Micrognathia, Hypertelorism, High palate, Flat occi...	OMIM:249420
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Proptosis, Long philtrum, Long eyelashes, Micrognathia, Antever...	OMIM:618577
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Inability to walk, Distal lower limb amyotrophy, Abnormality of peripheral nerve c...	ORPHA:431329
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Low-set ears, Broad thumb, Hearing impairment, Difficulty walking, Arachnodactyly, Ataxia, High p...	ORPHA:481152
Atrial Fibrillation, Familial, 15	Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde...	OMIM:615770
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Plagiocephaly, Eczematoid dermatitis, Hearing impairment, Long philtrum, Failure to thrive, Macro...	OMIM:619721
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Toe syndactyly, Carious teeth, Finger syndactyly, Micrognathia, Bilateral single t...	ORPHA:3253
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Hearing impairment, Small nail, Frontal upsweep of hair, Deeply set eye, Epicanthus...	OMIM:620494
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis, Joint contracture, Ankle clonus	OMIM:611225
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Optic atrophy, Overlapping toe	OMIM:618572
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis	OMIM:269920
Li-Ghorbani-Weisz-Hubshman Syndrome	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Telecanthus, Prominent nasal b...	OMIM:618974
Branchial Arch Syndrome, X-Linked	High, narrow palate, Low-set ears, Hearing impairment, Cryptorchidism, Protruding ear, Short stat...	OMIM:301950
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Thin upper lip vermilion, Follicular hyperkeratosis, Enamel hypoplasia,...	OMIM:613576
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Wide nasal bridge, Alopecia, Hypoplasia of the maxilla, Cupped ear, Conductive hear...	OMIM:616367
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Wide nasal bridge, Lipoatrophy, Hypopigmentation of the skin, Failure to thrive, Bulbous nose, Mi...	ORPHA:261304
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy, Diabetes mellitus, Muscle weakness	ORPHA:79230
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Sick sinus syndrome, Brachydac...	OMIM:140450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Hypertrophic cardiomyopathy, Respiratory distress, Ragged-red muscle fibers, L...	OMIM:613561
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c...	OMIM:605814
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del...	OMIM:613849
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Hypoplasia of the maxilla, Protruding ear, Broad eyebrow, Microcephaly, Narrow...	OMIM:618302
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip contracture, Myopath...	ORPHA:800
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Hyperkeratosis, Sparse scalp hair	ORPHA:1573
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Alopecia, Carious teeth, Palmoplan...	ORPHA:659
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Inability to walk, Reduced left ...	ORPHA:258
Degcags Syndrome	Low-set ears, Hearing impairment, Premature graying of hair, Hepatosplenomegaly, Micrognathia, Ge...	OMIM:619488
Joubert Syndrome With Renal Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridg...	ORPHA:220497
Nathalie Syndrome	Growth delay, Skeletal muscle atrophy, Abnormal EKG	OMIM:255990
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Growth delay, Hypoglycemia, Rhabdomyolysis,...	OMIM:614921
Hurler-Scheie Syndrome	Aortic regurgitation, Thickened skin, Camptodactyly of finger, Umbilical hernia, Contracture of t...	OMIM:607015
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Shoulder girdle muscle weakness, Difficulty walking, Hypertriglyceridemia, Myopat...	ORPHA:98907
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythm...	ORPHA:3386
Aarskog-Scott Syndrome	Epicanthus, Everted lower lip vermilion, Hypertelorism, Abnormal pinna morphology, Hypoplasia of ...	ORPHA:915
Tyrosinemia, Type Ii	Herpetiform corneal ulceration	OMIM:276600
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Natal tooth, Oral leukoplakia, ...	ORPHA:2309
Smith-Magenis Syndrome	Wide nasal bridge, Abnormality of the outer ear, Abnormality of the dentition, Abnormal nerve con...	OMIM:182290
Sclerosteosis 1	Wide nasal bridge, Tooth malposition, Optic atrophy, Depressed nasal bridge, Dental malocclusion,...	OMIM:269500
Joubert Syndrome	Low-set ears, Highly arched eyebrow, Anteverted nares, Prominent nasal bridge, Aganglionic megaco...	ORPHA:475
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Tooth agenesis, Micrognathia, Inguinal hernia, Cryptorchidism, ...	ORPHA:2645
Arthrogryposis, Distal, Type 5	Firm muscles, Clinodactyly, Decreased muscle mass, Arachnodactyly, Limited wrist extension, Dista...	OMIM:108145
Antley-Bixler Syndrome	Choanal atresia, Proptosis, Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial sutu...	ORPHA:83
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Intestinal lymphangiectasia, Narrow mouth, Irregular dentition, Camptodactyly...	OMIM:616006
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Clinodactyly, Delayed eruption of teeth, Hypogonadis...	ORPHA:73272
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Small for gest...	OMIM:261640
Tenorio Syndrome	Osteopenia, Macroglossia, Mandibular prognathia, Hypoglycemia, Hypertrichosis, Recurrent aphthous...	OMIM:616260
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Optic atrophy, Orbital craniosynostosis, Micrognathia, Hypertelorism, Dolichocephaly, Frontal bos...	ORPHA:1538
Moyamoya Disease 1	Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Alopecia, Osteopenia, Dental malocclusion, Progressive sensorineural hearing impairm...	ORPHA:2959
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Hearing impairment, Long philtrum, Wid...	OMIM:249620
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Oculomotor nerve palsy, Hemiparesis, Arrhythmia, Lethargy, Ataxia, Facial palsy	ORPHA:68
2Q32Q33 Microdeletion Syndrome	Low-set ears, Dental crowding, Fine hair, Long philtrum, Downslanted palpebral fissures, Antevert...	ORPHA:251019
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Spasticity, Recurrent hypoglycemia, Apnea, Spastic hemipares...	ORPHA:20
Cofs Syndrome	Wide nasal bridge, Optic atrophy, Camptodactyly of finger, Hypogonadism, Joint stiffness, Microgn...	ORPHA:1466
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Frontal bossing, Failure to thrive in infan...	OMIM:618829
Harrod Syndrome	Dental malocclusion, Failure to thrive, Hypopigmented skin patches, Narrow mouth, Hypotelorism, J...	ORPHA:2115
Osteogenesis Imperfecta, Type V	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Anterior radial head dis...	OMIM:610967
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Small for gestational age, Kyphoscoliosis	OMIM:300844
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss	OMIM:191390
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Generalized lipodystrophy, Micrognathia, Narrow mouth, Loss of su...	OMIM:608612
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit...	ORPHA:2410
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Amyloidosis, Hereditary Systemic 1	Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomegaly, Cardiomyopathy	OMIM:105210
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po...	OMIM:132900
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Auriculocondylar Syndrome	Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Low...	ORPHA:137888
Developmental Delay With Or Without Dysmorphic Facies And Autism	Low-set ears, Small nail, Hearing impairment, Supernumerary nipple, Micrognathia, Congenital diap...	OMIM:618454
Rubinstein-Taybi Syndrome 1	Low-set ears, Facial hypertrichosis, Hearing impairment, Delayed cranial suture closure, Microgna...	OMIM:180849
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Proptos...	ORPHA:93262
Diastrophic Dysplasia	Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproporti...	OMIM:222600
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Abnormal heart morphology, Intrauterine growth retardation, Small for gestational age, Hypoglycemia	ORPHA:231147
Goldberg-Shprintzen Syndrome	Small hand, Megalocornea, Increased femoral anteversion, Aganglionic megacolon, Clinodactyly of t...	OMIM:609460
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema	ORPHA:70578
Richieri Costa-Da Silva Syndrome	Falls, Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar ve...	ORPHA:3101
Lipoid Proteinosis	Abnormal oral mucosa morphology, Thickened skin, Microglossia, Thick lower lip vermilion, Alopeci...	ORPHA:530
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Marshall Syndrome	Thick upper lip vermilion, Micrognathia, Genu valgum, Sparse eyelashes, Sensorineural hearing imp...	ORPHA:560
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Male hypogonadism, Retrognathia, Failure to thrive, Microcephaly, Hyper...	ORPHA:163976
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Disproportionate short-limb short stature, Abnormal epiphysis morphol...	ORPHA:93351
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Atrophic scars, Arterial rupture, Myopathy, Joint hypermobil...	ORPHA:300179
Retinitis Pigmentosa 71	Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P...	OMIM:616394
Machado-Joseph Disease	Impaired vibratory sensation, External ophthalmoplegia, Distal amyotrophy, Spasticity, Facial-lin...	OMIM:109150
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Baller-Gerold Syndrome	Conductive hearing impairment, Proptosis, Brachyturricephaly, Failure to thrive in infancy, Short...	ORPHA:1225
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Low-set ears, Undetectable visual evoked potentials, Dental malocclusion, Broad columella, Diaste...	ORPHA:436245
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Cockayne Syndrome B	Dry hair, Carious teeth, Limitation of joint mobility, Abnormal hair morphology, Dry skin, Reduce...	OMIM:133540
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy, Progressive external ophthalmoplegia...	OMIM:615917
Schilbach-Rott Syndrome	Bifid uvula, Prominent nose, Micrognathia, Narrow mouth, Upslanted palpebral fissure, Submucous c...	OMIM:164220
15Q Overgrowth Syndrome	Low-set ears, Abnormality of the outer ear, Contracture of the proximal interphalangeal joint of ...	ORPHA:314585
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, Diarrhea, Failure to thrive, Weight loss, High palate, Project...	OMIM:620045
Seckel Syndrome 7	Prominent nose, Hypotelorism, Madelung deformity, Microcephaly, Primary amenorrhea, Abnormal carp...	OMIM:614851
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Adrenal calcification, Cerebral calcification, Pancreatic...	ORPHA:51608
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fe...	ORPHA:163596
Desbuquois Syndrome	Genu recurvatum, Depressed nasal bridge, Proptosis, Elbow dislocation, Camptodactyly of finger, L...	ORPHA:1425
Allan-Herndon-Dudley Syndrome	Decreased body mass index, Skeletal muscle atrophy, Failure to thrive in infancy, Cryptorchidism,...	ORPHA:59
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait disturbance, Parkinsonism with ...	ORPHA:314632
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ret...	OMIM:106210
Leber Congenital Amaurosis 4	Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti...	OMIM:604393
Werner Syndrome	Small hand, Premature graying of hair, Neoplasm of the oral cavity, Slender build, White forelock...	ORPHA:902
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	External ophthalmoplegia, Spasticity, Failure to thrive, Loss of ambulation, Babinski sign, Tachy...	OMIM:615838
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Furrowed tongue, Gingival overgrowth, Tracheoesophageal fistula, Sparse hair...	ORPHA:1839
Trisomy 20P	Finger syndactyly, Micrognathia, Cryptorchidism, Abnormal antihelix morphology, Low posterior hai...	ORPHA:261318
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, Hypergranu...	OMIM:242100
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Depressed nasal bridge, Osteopenia, Skull asymmetry, Frontal bossing, Tented upper ...	OMIM:616723
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Tachypnea, Failure to thrive, Respiratory distress	OMIM:263000
Shprintzen-Goldberg Syndrome	Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, Hypertelorism, High, narrow palate, O...	ORPHA:2462
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Osteopenia, Toenail dysplasia, Conductive hearing impairment, Dental crowding, Long...	OMIM:617877
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hyp...	OMIM:619386
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Mucolipidosis Type Iv	Genu recurvatum, Abnormality of retinal pigmentation, Microdontia, Microcephaly, Abnormal nasal m...	ORPHA:578
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ...	OMIM:620542
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Short finger, Sclerosis of skull base, Knee flexion contracture,...	OMIM:313420
Intellectual Developmental Disorder, Autosomal Dominant 65	Low-set ears, Wide nasal bridge, Downturned corners of mouth, Long philtrum, Thick upper lip verm...	OMIM:619320
Scalp-Ear-Nipple Syndrome	Low-set ears, Underdeveloped tragus, Dry skin, Epicanthus, Multiple lipomas, Blepharophimosis, Na...	OMIM:181270
Infantile Dystonia-Parkinsonism	Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Hypom...	ORPHA:238455
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Recurrent pneumonia, Osteopenia, Genu valgum, Micrognathia, Malar flat...	OMIM:613848
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic...	OMIM:618546
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, ...	OMIM:617872
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Facial wrinkling, Micrognathia, Frontal upsweep of hair, Sensorine...	OMIM:305450
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Alopecia, Widened atrophic scar, Periodontitis, Aortic root aneurysm, Prominent veins...	ORPHA:536532
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridg...	ORPHA:220493
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Thanatophoric Dysplasia	Low-set ears, Depressed nasal bridge, Proptosis, Hearing impairment, Downslanted palpebral fissur...	ORPHA:2655
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Proptosis, Macrocephaly, Telecant...	OMIM:109120
Pseudohypoparathyroidism, Type Ia	Depressed nasal bridge, Hyperphosphatemia, Delayed eruption of teeth, Hypogonadism, Hypocalcemic ...	OMIM:103580
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Depressed nasal bridge, Retrognathia, Thick eyebrow, Upslanted palpebral fissure, M...	OMIM:620535
Kbg Syndrome	Bilateral conductive hearing impairment, Hypertelorism, Widely-spaced maxillary central incisors,...	ORPHA:2332
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Postnatal macrocephaly, Frontal bossing, Deeply set eye, Microtia	OMIM:618158
Spondylo-Ocular Syndrome	Low-set ears, Long philtrum, Abnormal eyebrow morphology, Facial hypotonia, Abnormal antihelix mo...	ORPHA:85194
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity...	ORPHA:70591
Spinocerebellar Ataxia 17	Broad-based gait, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Rigidity, M...	OMIM:607136
Perrault Syndrome 1	Ataxia, Gonadal dysgenesis, Gait ataxia, Sensorineural hearing impairment, Primary amenorrhea, Ta...	OMIM:233400
Noonan Syndrome 5	Low-set ears, Small nail, Dry skin, Epicanthus, Hypertelorism, Curly hair, Sparse eyebrow, Downsl...	OMIM:611553
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle...	OMIM:214150
Cranioectodermal Dysplasia 1	Low-set ears, Anodontia, Epicanthus, Everted lower lip vermilion, Thin nail, Tubulointerstitial n...	OMIM:218330
Cantu Syndrome	Erlenmeyer flask deformity of the femurs, Congenital hypertrophy of left ventricle, Broad hallux,...	OMIM:239850
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Narrow mouth, Severe failure to thrive, Bilateral sensorineural hearing impairment, Optic disc pa...	ORPHA:468631
Huntington Disease	Involuntary movements, Decreased body mass index, Difficulty walking, Inability to walk, Chorea, ...	ORPHA:399
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Muscle weakness, Decreased response to growth hormone stimulation test, Decreased testicular size...	ORPHA:280679
Cebalid Syndrome	Low-set ears, Highly arched eyebrow, Depressed nasal ridge, Depressed nasal bridge, Plagiocephaly...	OMIM:618774
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Narrow chest, Abnormal clavicle morphology, Micrognathia, Large fontan...	ORPHA:93267
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Distal sensory impairm...	OMIM:606693
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Inability to walk, Protruding ear, Talipes equinovarus, Joint contractur...	OMIM:617481
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Thin upper lip vermilion, Epic...	ORPHA:2015
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Decreased motor nerve ...	OMIM:607831
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Alopecia totalis, Intrauterine growth retardation, H...	OMIM:618775
Monosomy 18P	Tooth malposition, Alopecia, Carious teeth, Downturned corners of mouth, Macrotia, Micrognathia, ...	ORPHA:1598
Pierre Robin Sequence With Facial And Digital Anomalies	Easily subluxated first metacarpophalangeal joints, Hyperconvex nail, Glossoptosis, Cleft palate,...	OMIM:311895
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakn...	ORPHA:238329
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Weiss-Kruszka Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, Hy...	OMIM:618619
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ...	OMIM:181400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Hearing impairment, Genu valgu...	OMIM:143095
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Low-set ears, Supernumerary nipple, Joint contracture of the 5th finger, Sparse eyebrow, Cleft li...	OMIM:620098
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Char Syndrome	Low-set ears, Highly arched eyebrow, Thick eyebrow, Triangular mouth, Protruding ear, Clinodactyl...	OMIM:169100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger...	OMIM:235510
Testicular Anomalies With Or Without Congenital Heart Disease	Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Cryptorchidism, Inguinal hernia,...	OMIM:615542
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Thick upper lip vermilion, Low posterior hairline, Blepharophimosis, ...	ORPHA:163654
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, ...	ORPHA:96
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Marbach-Schaaf Neurodevelopmental Syndrome	Depressed nasal bridge, Short palpebral fissure, Broad nasal tip, Plagiocephaly, Downturned corne...	OMIM:619680
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Abdominal distention, Umbilical hernia, Large for gestational age, Hypothermia, Prolonged neonata...	ORPHA:226313
Developmental And Epileptic Encephalopathy 73	Failure to thrive, Narrow nasal bridge, Inguinal hernia, Sensorineural hearing impairment, Microc...	OMIM:618379
Costello Syndrome	Abnormal hair morphology, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Hyper...	ORPHA:3071
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Abnormality of the dentition, Wide nasal bridge, Dental malocclusion, Thick lower l...	ORPHA:85321
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Thickened skin, Carious teeth, Hypoplasia of the odontoid process, Hearing ...	OMIM:253200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Alopecia, Male hypogonadism, Nephrocalcinosis, Cataract...	OMIM:240300
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Hearing impairment, Decreased body weight, High palate, Macrotia, Flat occiput, Hyp...	ORPHA:505237
Coxoauricular Syndrome	Hip dislocation, Hearing impairment, Microtia	OMIM:122780
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Fetal Hydantoin Syndrome	Depressed nasal ridge, Coarse hair, Hypoplastic fingernail, Low-set, posteriorly rotated ears, Sh...	ORPHA:1912
Incontinentia Pigmenti	Finger syndactyly, Supernumerary nipple, Abnormal hair morphology, Abnormal hand morphology, Abno...	ORPHA:464
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Delayed vertebral ossification, Butterfly vertebrae, Kyphoscoliosis, S...	OMIM:613330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Thoracolumbar kyphosis, Growth dela...	ORPHA:2072
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Hearing impairment, Frontal upsweep of hair, Open mouth, Epicanthus, Hypertelorism,...	ORPHA:369891
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coarse hair, Conductive hearing impairme...	ORPHA:2095
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Abnormal earlobe morphology, Hypoplastic fingernail, Small anterior fontanelle, Umb...	ORPHA:96191
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Cardiomyopathy, Myoclonus, Tremor, Poor head control	OMIM:619651
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis	OMIM:615426
Mody	Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m...	ORPHA:552
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Congestive heart failure, Polyhydramnios, Atrial septal defect, Facial hyp...	ORPHA:500533
Hidrotic Ectodermal Dysplasia, Halal Type	Irregular menstruation, Retrognathia, Hearing impairment, Supernumerary nipple, Sparse body hair,...	ORPHA:1809
Trigonocephaly 2	Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Trigonocephaly, Metopi...	OMIM:614485
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Wolff-Parkinson-White syndrome, Hemipare...	OMIM:601338
Autosomal Recessive Dopa-Responsive Dystonia	Postural tremor, Gait ataxia, Myoclonus, Rigidity, Abnormality of extrapyramidal motor function, ...	ORPHA:101150
Kleeblattschaedel	Recurrent corneal erosions	OMIM:148800
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Thickened skin, Conductive hearing impairment, Umbilical hernia, Congestive...	ORPHA:423461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Poor head control, Muscular dystrophy, Left ventricular hypertrophy	OMIM:613153
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Low-set ears, Small nail, Deeply set eye, Oligozoospermia, Hypertelorism, Sparse hair, Osteopenia...	OMIM:614813
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Postnatal growth retardation, Micrognathia, Open mouth, Low posterior hairline, Mic...	OMIM:156200
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Gait disturbance, Abnormal pyramidal sign...	OMIM:213600
Stuve-Wiedemann Syndrome 1	Thin ribs, Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal raref...	OMIM:601559
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Bifid uvula, Abnormality of the dentition, Choanal atresia, Wide nasal bridge, Hear...	OMIM:300968
Developmental And Epileptic Encephalopathy 87	Horizontal eyebrow, Widely spaced teeth, Bulbous nose, Prominent nose, Hypotelorism, Hypsarrhythm...	OMIM:618916
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Pulmonic stenosis, Calf musc...	OMIM:253800
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Proptosis, Long philtrum, Sensorineural hearing impairment, Joint hype...	ORPHA:90653
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Ayme-Gripp Syndrome	Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, Sensorineural hea...	OMIM:601088
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small nail, Hearing impairment, Cleft mandible, Everted lower lip vermilion, Hypertelorism, Short...	ORPHA:364577
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Failure to thrive, Hypoglycemia	OMIM:610090
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Cleft soft palate, Micrognathia, Ventral hernia, Hypertelorism, Short nose, Broad n...	OMIM:618529
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Failure to thrive, Cardiomyopathy, Poor head control, Growth delay, Muscle we...	ORPHA:88618
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure	OMIM:301021
Cenani-Lenz Syndrome	Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Absent t...	ORPHA:3258
Melas	Type II diabetes mellitus, Myopathy, Hemiparesis, Ataxia, Concentric hypertrophic cardiomyopathy,...	ORPHA:550
Short Stature-Wormian Bones-Dextrocardia Syndrome	Low-set ears, Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of fing...	ORPHA:2863
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, Aortic root aneurysm, Downslanted palpebral fissures, Generalized lipodystrophy, ...	OMIM:616914
Koolen-De Vries Syndrome	Cryptorchidism, Arachnodactyly, Bicuspid aortic valve, Everted lower lip vermilion, Hypospadias, ...	ORPHA:96169
Huntington Disease-Like 1	Involuntary movements, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ...	ORPHA:157941
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micrognathia, Malar flattening, Hirs...	OMIM:224400
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Nabais Sa-De Vries Syndrome, Type 1	Highly arched eyebrow, Depressed nasal bridge, Optic nerve hypoplasia, Hearing impairment, Downsl...	OMIM:618828
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridg...	ORPHA:2318
Schöpf-Schulz-Passarge Syndrome	Alopecia, Palmoplantar keratoderma, Premature loss of primary teeth, Hypodontia, Aplasia/Hypoplas...	ORPHA:50944
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea, Small for gestational age, Atrial septal defect, Hypoglycemia	OMIM:615160
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Proptosis, Downslanted palpebral fissures, Macrocephaly, Thin calvarium, Micrognathia...	ORPHA:85184
Preeclampsia	Elevated diastolic blood pressure, Elevated systolic blood pressure, Pulmonary edema, Hypertension	ORPHA:275555
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Pigmentary retinopathy, Microglossia, Dental malocclus...	OMIM:253250
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Hearing impairment, Micrognathia, Epicanthus, Hypertelorism, Short nose, Cleft lip,...	OMIM:616894
Pseudohypoparathyroidism Type 1B	Depressed nasal bridge, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Increa...	ORPHA:94089
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Inability to walk, Joint contracture, Kyphoscoliosis	OMIM:617977
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Slender build, Ragged-red muscle fibers, Gastrointestinal dysmotil...	OMIM:613662
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn...	OMIM:160565
Ring Chromosome 8 Syndrome	Anteverted nares, Abnormal palate morphology, Low posterior hairline, Epicanthus, Round ear, Fron...	ORPHA:1450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Keppen-Lubinsky Syndrome	Narrow naris, Micrognathia, Open mouth, Prominent nasal tip, High palate, Narrow nasal bridge, In...	ORPHA:435628
Atkin-Flaitz Syndrome	Abnormality of the dentition, Broad nasal tip, Macrocephaly, Obesity, Anteverted nares, Everted l...	ORPHA:1193
Juvenile Huntington Disease	Broad-based gait, Chorea, Gait ataxia, Myoclonus, Rigidity, Weight loss, Ataxia, Bradykinesia, Pr...	ORPHA:248111
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Hyperkeratosis, Abnormality of...	ORPHA:2584
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Small hand, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aor...	ORPHA:401923
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Scoliosis, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies,...	ORPHA:93160
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Micrognathia, Cryptorchidism, Myopathy, Sensorineural hearing impa...	OMIM:254940
Turnpenny-Fry Syndrome	Low-set ears, Narrow mouth, Decreased body weight, Prominent nasal tip, Narrow palpebral fissure,...	OMIM:618371
Joubert Syndrome With Hepatic Defect	Low-set ears, Highly arched eyebrow, Optic disc coloboma, Anteverted nares, Prominent nasal bridg...	ORPHA:1454
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Combined Oxidative Phosphorylation Deficiency 55	Depressed nasal bridge, High-frequency hearing impairment, Bilateral ptosis, Hypomagnesemia, Mild...	OMIM:619743
Neu-Laxova Syndrome	Osteomalacia, Abnormal hair morphology, Micrognathia, Abnormal nasolacrimal system morphology, Ev...	ORPHA:2671
Cataract 47	Cataract, Microcornea, Glycosuria	OMIM:612018
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type	Arachnodactyly, Protruding ear, Joint contracture of the 5th finger, Disproportionate tall stature	OMIM:300799
Alkuraya-Kucinskas Syndrome	Low-set ears, Depressed nasal bridge, Plagiocephaly, Arthrogryposis multiplex congenita, Macrocep...	OMIM:617822
Holoprosencephaly	Abnormality of the spleen, Abnormal antihelix morphology, Congenital diaphragmatic hernia, Deeply...	ORPHA:2162
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Frontal balding, Micrognathia, Sensorineural hearing impairment, Deeply set eye, Ep...	OMIM:612474
Lipase Deficiency, Combined	Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia	OMIM:246650
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Leukonychia, Nail dystrophy, Syncope, Ventricular tachycardia, Woolly hair	OMIM:615821
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Deeply set eye, Epiblepha...	OMIM:620450
X-Linked Intellectual Disability, Abidi Type	Hearing impairment, Decreased testicular size, Protruding ear, Short stature, Non-midline cleft o...	ORPHA:85273
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi...	ORPHA:101110
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Necrotizing myopathy, Exercise-induced rhabdomyolysis,...	ORPHA:423
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Sensorineural hearin...	ORPHA:71267
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short palpebral fissure, Failure to thrive, Underdeveloped nasal alae, Secondary microcephaly, Mi...	OMIM:300986
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Abnormality of the dentition, Conical tooth, Alopecia, Coronal craniosynostosis, De...	ORPHA:228390
Lateral Meningocele Syndrome	Low-set ears, Micrognathia, Hypertelorism, High palate, Keloids, Downslanted palpebral fissures, ...	OMIM:130720
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Muscular dystrophy	OMIM:204730
Non-Acquired Isolated Growth Hormone Deficiency	Microphallus, Decreased muscle mass, Delayed puberty, Abdominal obesity, Short stature, Neonatal ...	ORPHA:631
Van Esch-O'Driscoll Syndrome	Bifid uvula, Depressed nasal bridge, Short palpebral fissure, Downturned corners of mouth, Retrog...	OMIM:301030
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Long eyelashes, Micrognathia, Biconcave vertebral bodies, Joint hype...	OMIM:617952
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, Failure to thrive, 3-Methylglutaconic aciduria	ORPHA:67048
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycar...	OMIM:605676
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Broad-based gait, Skeletal muscle atrophy, Contractures of the large joints,...	OMIM:616716
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Downslanted palpebral fissures, Genu valgum, Frontal upsweep of hair, Hy...	OMIM:617798
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla...	ORPHA:1147
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Macrotia, Elbow contracture, Bulbous nose, Narrow nose, Micrognathia, Irregular de...	OMIM:615656
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Depressed nasal bridge, Dental malocclusion, Delayed ...	OMIM:612350
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Noonan Syndrome 13	Low-set ears, Recurrent otitis media, Dry skin, Micrognathia, Generalized hirsutism, Low posterio...	OMIM:619087
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge...	OMIM:253000
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Joi...	OMIM:619692
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Downslanted palpebral fissures, Relative macrocephaly, Anteverted nares, Epi...	OMIM:618292
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Plagiocephaly, Proptosis, Long philtrum, Downslanted palpebral fissures, Macro...	OMIM:618821
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Hematuria, Proteinuria, Keratoconju...	ORPHA:91138
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure...	ORPHA:324410
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Limb muscle weakness, Cardiom...	OMIM:619259
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Dystrophic toenail, Abnormal cortical bone morphol...	ORPHA:970
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Rhizomelia, Kyphoscoliosis, Severe failure to thrive, Delayed CNS myelinati...	OMIM:215100
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric...	ORPHA:90308
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Low-set ears, Cleft lip, Horizontal eyebrow, Downturned corners of mouth, Long philtrum, Microret...	OMIM:618571
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Fine hair, Elbow dislocati...	ORPHA:3236
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Parkinsonism, Limb hypertonia, Hypertonia, Bradykinesia	OMIM:617384
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Macrocephaly, Thick eyebrow, Deeply set eye, Low posterior hairline, Thin ...	ORPHA:2429
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Bone Marrow Failure Syndrome 3	Aplastic anemia, Small nail, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Micro...	OMIM:617052
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula...	DECIPHER:39
Neuraminidase Deficiency	Skeletal muscle atrophy, Cardiomyopathy, Myoclonus, Splenomegaly, Dysmetria, Cardiomegaly, Hepato...	OMIM:256550
Sialidosis Type 2	Skeletal muscle atrophy, Hearing impairment, Umbilical hernia, Inguinal hernia, Ataxia, Short sta...	ORPHA:87876
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Toenail dysplasia, Hearing impairment, Deeply set eye, Thickened ears, Hyperteloris...	OMIM:300966
Double Outlet Right Ventricle	Hypoplastic left heart, Failure to thrive, Tetralogy of Fallot, Heart murmur, Truncus arteriosus,...	ORPHA:3426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c...	ORPHA:73224
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal reticulocyte morphology, Proptosis, Abnormal dental morphology, Malar prom...	ORPHA:2522
Metatropic Dysplasia	Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Long coc...	OMIM:156530
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Delayed cranial suture closure, Postnatal macrocephaly, Hypocal...	ORPHA:93325
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Scapulohumeral muscular dystrophy, Myopathy	OMIM:160570
Vici Syndrome	Low-set ears, Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4...	OMIM:242840
Robinow Syndrome	Low-set ears, Tooth malposition, Flared nostrils, Small nail, Ankyloglossia, Micrognathia, Marked...	ORPHA:97360
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h...	OMIM:602400
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Cerebral edema, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
10Q22.3Q23.3 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Microretrognathia, Failure to thrive, Downslanted palpebral...	ORPHA:276413
Pulmonary Blastoma	Weight loss	ORPHA:64741
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal calvaria morphology, Coarse metaphyseal trabecularization, Epiphyseal stippling, Hypotel...	ORPHA:1952
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato...	OMIM:278000
Hyperlysinemia	Hypoplastic helices, Depressed nasal ridge, Hypoplasia of the antihelix, Recurrent pneumonia, Hyp...	ORPHA:2203
Aminoacylase 1 Deficiency	Feeding difficulties, Hyperactivity, Muscle weakness, Bradycardia	OMIM:609924
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Wide nasal bridge, Osteopenia, Fractured radius, Unilateral cleft lip, Large fleshy...	OMIM:616897
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Decreased body mass index, Failure to thrive, Abnormality of the hairline, Congen...	ORPHA:370079
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Erythema, Arthrogryposis multiplex congenita, Recurrent otitis media, Dry skin, Hep...	OMIM:619503
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Relapsing Polychondritis	Erythema, Uveitis, Alopecia, Keratitis, Hepatitis, Limitation of joint mobility, Vertigo, Recurre...	ORPHA:728
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Abnormality of the wrist, Nail dystrophy, Abnormal toenail morphology, Scarring, ...	ORPHA:89843
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Organic aciduria, Keratoconjunctivitis, Weight ...	ORPHA:79242
Oculopharyngeal Muscular Dystrophy 1	Gait disturbance, Facial palsy, Limb muscle weakness, Ragged-red muscle fibers	OMIM:164300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Broad-based gait, Skeletal muscle atrophy, Failure to thrive, Painless fractu...	OMIM:256810
Otofaciocervical Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Abnormal antihelix morphol...	ORPHA:2792
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Pseudohypoparathyroidism, Type Ic	Depressed nasal bridge, Hyperphosphatemia, Delayed eruption of teeth, Hypogonadism, Hypocalcemic ...	OMIM:612462
21Q22.11Q22.12 Microdeletion Syndrome	Low-set ears, Small nail, Recurrent otitis media, Dry skin, Hypertelorism, Short palpebral fissur...	ORPHA:261323
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab...	ORPHA:1028
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Benign Samaritan Congenital Myopathy	Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers	ORPHA:324581
Branchioskeletogenital Syndrome	Carious teeth, Hypertelorism, Hypoplasia of the maxilla, Broad nasal tip, Downturned corners of m...	ORPHA:1299
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Overlapping toe, Cryptorchidism, Low anterior hairline, Hirsutism, Protruding ear, High palate, S...	OMIM:300004
Kid Syndrome	Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatitis, Limbal stem...	ORPHA:477
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Broad-based gait, Decreased muscle mass, Tall stature, Long hallux, Cryptorchidism, Narrow palm, ...	OMIM:309583
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Macrocephaly, Prominent nasal bridge, Tented u...	ORPHA:2662
Serotonin Syndrome	Hypotension, Myoclonus, Rhabdomyolysis, Rigidity, Tremor, Tachypnea, Clonus, Hypertonia, Tachycar...	ORPHA:43116
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal heart valve morphology, Abnormal hip bone morphology, Joint s...	ORPHA:577
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Fasting h...	ORPHA:71212
Coffin-Siris Syndrome 6	Low-set ears, High, narrow palate, Depressed nasal bridge, Broad nasal tip, Conductive hearing im...	OMIM:617808
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Bronchiectasis, Failure to thrive, Eczematoid dermatitis, Abnormality of co...	ORPHA:79128
Spastic Paraplegia 80, Autosomal Dominant	Spastic paraplegia, Limb ataxia, Babinski sign, Gait disturbance, Lower limb spasticity, Bradykin...	OMIM:618418
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Narr...	OMIM:265000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Hearing impairment, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ova...	ORPHA:2232
3-Hydroxyisobutyric Aciduria	Long philtrum, Micrognathia, Hypogonadotropic hypogonadism, Microcephaly, Microtia	ORPHA:939
Rapp-Hodgkin Syndrome	Carious teeth, Small nail, Hearing impairment, Supernumerary nipple, Recurrent otitis media, Prog...	OMIM:129400
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, V...	ORPHA:2256
De Barsy Syndrome	Low-set ears, Narrow mouth, Excessive wrinkled skin, Deeply set eye, Epicanthus, Hypertelorism, B...	ORPHA:2962
Agel Amyloidosis	Cataract, Orthostatic hypotension due to autonomic dysfunction, Keratoconjunctivitis sicca, Facia...	ORPHA:85448
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d...	OMIM:616188
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Absent pubertal growth spurt, Gait ataxia, Congenital diaphragmatic hernia, Telangiectasia of the...	ORPHA:438134
Intellectual Developmental Disorder, Autosomal Dominant 56	Ataxia, Broad-based gait, Spasticity, Inability to walk, Myoclonus, Clumsiness, Paraparesis, Lowe...	OMIM:617854
Pseudohypoparathyroidism Type 1A	Depressed nasal bridge, Ectopic ossification, Hyperphosphatemia, Delayed eruption of teeth, Hypoc...	ORPHA:79443
Intellectual Developmental Disorder, Autosomal Dominant 74	Downslanted palpebral fissures, Prominent nose, Hypotelorism, Deeply set eye, Thin upper lip verm...	OMIM:620688
Three M Syndrome 2	Severe short stature, Thin ribs, Short 5th finger, Dental malocclusion, Clinodactyly, Slender lon...	OMIM:612921
Yunis-Varon Syndrome	Low-set ears, Clitoral hypertrophy, Hearing impairment, Aplasia of the distal phalanx of the hall...	ORPHA:3472
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Kyphosis, Hirsutism, Epicanthus, Small for gestational age	ORPHA:85288
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Decreased body weigh...	OMIM:182250
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Choanal atresia, Depressed nasal bridge, Proptosis, Hearing impairment, Anteverted...	ORPHA:1914
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal lower limb bone morphology, Isosexual precocious puberty, Increased suscepti...	ORPHA:2788
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper...	OMIM:601952
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71526
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t...	ORPHA:75840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Necrotizing Enterocolitis	Hypotension, Diarrhea, Abdominal distention, Vomiting, Temperature instability, Hypoactive bowel ...	ORPHA:391673
Leopard Syndrome 3	Low-set ears, Depressed nasal bridge, Palpebral thickening, Downslanted palpebral fissures, Multi...	OMIM:613707
Fg Syndrome 2	Protruding ear, Underdeveloped superior crus of antihelix, Frontal upsweep of hair, Broad hallux	OMIM:300321
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process,...	OMIM:253010
Acrodysostosis	Hearing impairment, Open bite, Open mouth, Epicanthus, Hypertelorism, Genu varum, Abnormality of ...	ORPHA:950
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Ankle flexion contracture, Depressed nasal bridge, Natal tooth, Bilateral conductiv...	OMIM:617802
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Low-set ears, Delayed cranial suture closure, Epicanthus, Hypertelorism, High palate, Short nose,...	OMIM:619383
Autosomal Dominant Dopa-Responsive Dystonia	Impaired vibration sensation in the lower limbs, Postural tremor, Gait ataxia, Rigidity, Abnormal...	ORPHA:98808
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Megalocornea, Fibular hypoplasia, Ulnar deviated ...	OMIM:164900
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Micrognathia, Cryptorchidism, Mitral valve prolapse, Low posterior hairline, Ventral ...	OMIM:618000
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy, Ankle flexion contracture, Knee flexion contracture, Flexion contracture of toe	ORPHA:320396
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Decrease...	OMIM:218000
Craniofacial Microsomia 2	Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Micrognathi...	OMIM:620444
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Speech apraxia, Obesity, Decreased body weight, First degree atrioventricula...	ORPHA:589821
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Micrognathia, Short neck, Camptodactyly, Arthrogryposis multiplex...	OMIM:618393
Charcot-Marie-Tooth Disease, Type 4D	Distal amyotrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw...	OMIM:601455
Joubert Syndrome 37	Low-set ears, Wide nasal bridge, Frontal bossing, Obesity, Anteverted nares, Wide nose, Deeply se...	OMIM:619185
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Shuffling gait, Spasticity, Somatic sensory dysfunction, Rigidity, Parkinsonism, Gait disturbance...	OMIM:221820
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia, Spastic gait, Slurred ...	ORPHA:972
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Inter...	ORPHA:1145
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Bulbar palsy, Decreased fertility, Limb muscle weakness	OMIM:313200
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar keratoderma	ORPHA:498359
Galloway-Mowat Syndrome	Abnormality of the dentition, Hypoplasia of the ear cartilage, Camptodactyly of finger, Micrognat...	ORPHA:2065
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, Delayed cranial suture closure, Micrognathia, Large fontanelles, Epicanthus, Flat o...	ORPHA:2780
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight, Maturity-onset diabetes of the young	OMIM:613375
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hearing impairment, Large posterior fontanelle, Delayed cranial suture closure, Micrognathia, Abs...	ORPHA:85199
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Cho...	ORPHA:225147
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Proptosis, Delayed eruption of teeth, Hearing impai...	ORPHA:2484
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Small for gestational age, Microretrognathia, Narrow chest...	OMIM:616229
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Abnormal form of the ...	ORPHA:1426
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Microcytic anemia, Protruding tongue, Neutrophilia, Hypertelorism, Depres...	ORPHA:99843
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Distal Xq28 Microduplication Syndrome	Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Dental crowding, Recurrent upper respirato...	ORPHA:293939
Macular Corneal Dystrophy	Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification...	ORPHA:98969
Smith-Magenis Syndrome	Micrognathia, Open mouth, Delayed eruption of primary teeth, Deeply set eye, Hypertelorism, Chron...	ORPHA:819
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Difficulty walking,...	ORPHA:464738
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Corneal neovascularization, Punctate keratitis, Keratoconjunctivitis sicca, Th...	OMIM:617388
Tetrasomy 5P	Low-set ears, Long philtrum, Congestive heart failure, Postnatal growth retardation, Overlapping ...	ORPHA:3309
Ovarian Hyperstimulation Syndrome	Generalized edema, Ascites, Peripheral edema, Pleural effusion, Enlarged polycystic ovaries, Pulm...	ORPHA:64739
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Micromelia, Umbilical hernia, Abnormal rib morpho...	ORPHA:93298
Faciodigitogenital Syndrome, Autosomal Recessive	Hearing impairment, Hypertelorism, High palate, Short nose, Downslanted palpebral fissures, Ingui...	OMIM:227330
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Muscular dystrophy	OMIM:254000
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:300280
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis	ORPHA:1909
Localized Scleroderma	Erythema, Hypopigmented skin patches, Esophagitis, Deeply set eye, Abnormal bone structure, Short...	ORPHA:90289
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build, Thick vermilion...	ORPHA:364028
17P13.3 Microduplication Syndrome	Low-set ears, Congenital hip dislocation, Downslanted palpebral fissures, Narrow mouth, Inguinal ...	ORPHA:217385
Intellectual Disability-Strabismus Syndrome	Low-set ears, Joint contracture of the hand, Limitation of joint mobility, Hearing impairment, Re...	ORPHA:363528
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Downslanted palpebral fissures, Failure to thrive in infancy, Macr...	OMIM:613670
Mulibrey Nanism	Short stature, Intrauterine growth retardation, Cachexia	ORPHA:2576
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Pla...	OMIM:616294
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Proptosis, Hypoplasia of ...	ORPHA:1798
Candidiasis, Familial, 1	Alopecia, Premature loss of teeth	OMIM:114580
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Cerebrooculofacioskeletal Syndrome 2	Hearing impairment, Camptodactyly of finger, Prominent nose, Micrognathia, Deeply set eye, Microc...	OMIM:610756
Pseudoaminopterin Syndrome	Hypoplasia of the antihelix, Synostosis of carpal bones, Micrognathia, Frontal upsweep of hair, M...	ORPHA:221120
Rothmund-Thomson Syndrome	Carious teeth, Small nail, Porokeratosis, Alopecia totalis, Infertility, Aplasia/Hypoplasia of th...	ORPHA:2909
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Cleft lip, Hearing impairment, Delayed puberty, Osteoporosis	OMIM:615271
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar...	OMIM:300918
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Rhabdomyolysis, Proximal muscle weakness, Arrhythm...	ORPHA:26791
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse scalp hair, Hearing impairment, Sparse body hair, Microcephaly, Abnormal nasal m...	ORPHA:2850
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Broad-based gait, Downturned corners of mouth...	OMIM:618067
Musculocontractural Ehlers-Danlos Syndrome	Hearing impairment, Decreased muscle mass, Narrow mouth, Cryptorchidism, Myopathy, High palate, A...	ORPHA:2953
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Decreased testicular size, Peripheral demyelination, K...	OMIM:604168
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Multiple Synostoses Syndrome 3	Proptosis, Humeroradial synostosis, Cubitus valgus, Limited interphalangeal movement, Dolichoceph...	OMIM:612961
Myopathy, Myofibrillar, 8	Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract...	OMIM:617258
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:613954
2P15P16.1 Microdeletion Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Tall stature, Narrow mouth, Mitral regurg...	ORPHA:261349
Erythermalgia, Primary	Keratoconjunctivitis sicca, Palpitations	OMIM:133020
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Depressed nasal bridge, Hearing impairment, Downslanted palpebral fissures, Gout, H...	OMIM:300661
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera...	OMIM:148700
Combined Oxidative Phosphorylation Defect Type 39	Vomiting, Tip-toe gait, Intrauterine growth retardation, Loss of ambulation, Feeding difficulties...	ORPHA:565624
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Anisospondyly, Narrow chest, Hemiatrophy of upper limb, Micrognathia, Delayed pate...	ORPHA:163649
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Enlargement of the wrists, Bulging o...	OMIM:600081
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Small nail, Atresia of the external auditory canal, Narrow mouth, Hypertelorism, Hig...	OMIM:123790
Hajdu-Cheney Syndrome	Low-set ears, Periodontitis, Hearing impairment, Open bite, Dry skin, Micrognathia, Narrow mouth,...	ORPHA:955
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Trigonocephaly, Anteverted nares, Wide mouth, Exaggerated cupid's bow, Epicanthus, ...	OMIM:618506
Leopard Syndrome 2	Low-set ears, Depressed nasal bridge, Thick lower lip vermilion, Downslanted palpebral fissures, ...	OMIM:611554
Pseudomyxoma Peritonei	Inflammation of the large intestine, Constipation, Weight loss, Intestinal obstruction	ORPHA:26790
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Low-set ears, Small hand, Genu valgum, Micrognathia, Narrow mouth, Ataxia, High palate, Unsteady ...	OMIM:618443
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Hall-Riggs Syndrome	Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia of the primary teeth, Enam...	OMIM:234250
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Glass Syndrome	Low-set ears, Broad-based gait, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, ...	OMIM:612313
Craniosynostosis 6	Plagiocephaly, Right unilambdoid synostosis, Parietal foramina, Delayed cranial suture closure, B...	OMIM:616602
Meier-Gorlin Syndrome 8	Low-set ears, Micrognathia, Narrow mouth, Decreased body weight, Thick vermilion border, Microtia	OMIM:617564
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Cerebrofacioarticular Syndrome	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Conductive hearing impairment, Tracheom...	ORPHA:314679
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Broad nasal tip, Abnormal circulating lipid concentration, Lymphopenia, Promin...	OMIM:616541
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Frontal bossing, Prominent nose, Hypotelorism, Deeply set eye, Thin upper lip vermilion, Macrocep...	OMIM:300486
Brown-Vialetto-Van Laere Syndrome 2	Optic atrophy, Limb muscle weakness, Kyphoscoliosis, Ataxia, Facial palsy, Scoliosis, Generalized...	OMIM:614707
Thoracolaryngopelvic Dysplasia	Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions...	OMIM:187760
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Hypotelorism, Tur...	OMIM:604757
Trisomy 10P	Low-set ears, Micrognathia, Epicanthus, Hypertelorism, High palate, Short nose, Macrotia, Short p...	ORPHA:171929
Ohdo Syndrome, X-Linked	Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Decreased body weight, Epicanthus, ...	OMIM:300895
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Elbow flexion cont...	OMIM:259450
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Micrognathia, Cryptorchi...	ORPHA:3304
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Abnormal hair whorl, Hypoplasia of the maxilla, Optic atrophy, Small nail, Hearing ...	OMIM:614261
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Supernumerary nipple, Recurrent otitis media, Micrognathia, Low posterior hairline,...	OMIM:213980
Geleophysic Dysplasia 1	Aortic valve stenosis, Thickened skin, Joint contracture of the hand, Small nail, Short palm, Irr...	OMIM:231050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Small nail, Thumb c...	ORPHA:96334
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Joubert Syndrome 7	Ataxia, Episodic tachypnea, Genu valgum, Postaxial polydactyly, Tachypnea, Oculomotor apraxia, Ce...	OMIM:611560
Intellectual Developmental Disorder, X-Linked 45	Short stature, High palate, Protruding ear, Macrotia	OMIM:300498
Hypotrichosis 1	Abnormality of the dentition, Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelash...	OMIM:605389
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Carious teeth, Dry skin, Micrognathia, Reduced subcutaneous adipose tissue, Sparse ...	OMIM:613026
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong...	ORPHA:85446
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Recurrent corneal erosions, Corneal...	OMIM:223900
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Tall stature, Genu valgum, Prominent...	OMIM:300602
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Infantile Systemic Hyalinosis	Thickened skin, Osteomalacia, Polycystic ovaries, Osteopenia, Aplasia/Hypoplasia of the thymus, I...	ORPHA:2176
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Wide nasal bridge, Sparse eyebrow, Hypoplasia of the maxilla, Cupped ear, Depressed...	OMIM:167730
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Cleft upp...	OMIM:239800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Depressed nasal bridge, Plagiocephaly, Hearing impairment, Failure to thrive, Long...	OMIM:619833
Malonyl-Coa Decarboxylase Deficiency	Short stature, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia	OMIM:248360
Oculodentodigital Dysplasia	Dry hair, Carious teeth, Joint contracture of the 5th finger, Epicanthus, Blepharophimosis, High ...	OMIM:164200
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Deeply set eye, Hypsarrhythmia, Short nose, Choanal atresia, Dow...	OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Open mouth, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Tali...	OMIM:301039
Mogs-Cdg	Generalized edema, Hepatosplenomegaly, Polyhydramnios, Cardiomegaly, Pulmonary edema, Left ventri...	ORPHA:79330
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr...	ORPHA:139507
Treacher-Collins Syndrome	Abnormal hair morphology, Open bite, Micrognathia, Narrow mouth, Absent eyelashes, Hypertelorism,...	ORPHA:861
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting, Hypothermia, Arrhythmia, Gait disturbance, Ataxia	ORPHA:29822
X Small Rings	Protruding ear, Toe syndactyly, Long philtrum, Upper limb undergrowth, Reduced bone mineral densi...	ORPHA:96201
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function	OMIM:601466
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Inability to walk, Tremor, Ankle clonus, Opisthotonus, Scissor gait, Ga...	OMIM:617013
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Alopecia of scalp, Gener...	ORPHA:2269
Baraitser-Winter Syndrome 1	Low-set ears, Sensorineural hearing impairment, Low posterior hairline, Epicanthus, Hypertelorism...	OMIM:243310
Triose Phosphate-Isomerase Deficiency	Diaphragmatic paralysis, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Isolated Congenital Hypoglossia/Aglossia	Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Weight loss, Micrognathia	ORPHA:141152
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Pes cavus, Peripheral axonal neuropathy, Talipes equinovarus, Decreased number of ...	OMIM:617087
Digital Extensor Muscle Aplasia-Polyneuropathy	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2926
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Syndromic X-Linked Intellectual Disability 7	Tooth malposition, Sparse body hair, Hypogonadism, Abnormal dental morphology, Cryptorchidism, Mi...	ORPHA:85274
Donnai-Barrow Syndrome	Low-set ears, Depressed nasal bridge, Broad nasal tip, Proptosis, Hearing impairment, Downslanted...	OMIM:222448
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Osteomalacia, Micrognathia, Esophagitis, Hernia, Hip disl...	ORPHA:1901
Hermansky-Pudlak Syndrome 10	Low-set ears, Retrognathia, Ocular albinism, Splenomegaly, Hypotelorism, Smooth philtrum, Microce...	OMIM:617050
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased HbA2 hemoglobin, Dry skin, Tiger tail banding, Microcephaly, ...	OMIM:616943
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Bradycardia	OMIM:619814
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib...	OMIM:122600
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration	OMIM:614266
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Failure to thrive, Eczematoid dermatitis, Breast aplasia, T...	ORPHA:238468
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Abnormal hair morphology, Genu valgum, Cryptorchidism, Ventricular se...	ORPHA:289
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Thoracic hypoplasia, Recurrent fractures, Large fontanelles, Bell-shape...	OMIM:166210
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Low-set ears, Pancytopenia, Hypersplenism, Hypertelorism, Choanal atresia, Failure to thrive in i...	OMIM:613385
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Premature graying of hair, Micrognathia, Alopecia of scalp, Vertebral segmentation...	ORPHA:2617
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Even-Plus Syndrome	Atopic dermatitis, Highly arched eyebrow, Depressed nasal ridge, Bifid nasal tip, Hypodontia, Bra...	OMIM:616854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy	OMIM:614830
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperostosis, Sensorineural heari...	OMIM:144750
Trisomy 5P	Short stature, Hypoplasia of penis, Abnormal metacarpal morphology, Protruding ear	ORPHA:1742
Flynn-Aird Syndrome	Alopecia, Carious teeth, Skeletal muscle atrophy, Atherosclerosis, Cerebral calcification, Primar...	ORPHA:2047
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Cataract	OMIM:620312
Autosomal Recessive Robinow Syndrome	Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Open bite, Ankyloglossia, Micr...	ORPHA:1507
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:95716
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Recurrent otitis media, Genu valgum, Micrognathia, Mitra...	OMIM:309350
Roberts-Sc Phocomelia Syndrome	Low-set ears, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Hypertelorism, Absent earlo...	OMIM:268300
Autosomal Dominant Robinow Syndrome	Low-set ears, Onychogryposis of fingernail, Hearing impairment, Elbow dislocation, Open bite, Mic...	ORPHA:3107
Autosomal Recessive Spastic Paraplegia Type 77	Progressive spastic paraplegia, Myoclonus, Intention tremor, Loss of ambulation, Babinski sign, S...	ORPHA:466722
Leukodystrophy, Hypomyelinating, 3	Failure to thrive, Leukodystrophy, Sudanophilic leukodystrophy, Kyphoscoliosis, Joint contracture...	OMIM:260600
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Autosomal Recessive Spastic Paraplegia Type 71	Spastic gait, Abnormal myelination	ORPHA:401840
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Micrognathia, Open mouth, Genu valgum, Sensorineural hearing ...	ORPHA:193
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction...	OMIM:617228
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Osteolytic defects of the phalanges of the hand, Neuropathic arthropathy, Hyperker...	OMIM:615632
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Alopecia, Proptosis, Hearing impairment, Limitation of joint mobili...	ORPHA:90153
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620135
Keppen-Lubinsky Syndrome	Recurrent pneumonia, Proptosis, Failure to thrive, Underdeveloped nasal alae, Narrow naris, Gener...	OMIM:614098
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Pigmentary retinopathy, Hearing impairment, Lipoma, Micrognathia, Hypotelorism, Generalized joint...	ORPHA:502423
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Low-set ears, High, narrow palate, Congenital contracture, Retrognathia, Long philtrum, Micrognat...	OMIM:620156
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Hypoglycemia, Failure to thrive, Lower limb muscle weakness	OMIM:617950
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Proptosis, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Down...	ORPHA:1790
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral c...	OMIM:301900
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Low-set, posteriorly rotated ears, Joint stiffness,...	ORPHA:1752
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Bruck Syndrome 2	Platyspondyly, Osteopenia, Pectus carinatum, Elbow flexion contracture, Pterygium, Inguinal herni...	OMIM:609220
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Hyperekplexia 4	Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion ...	OMIM:618011
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail	OMIM:302000
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed...	ORPHA:31826
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Low-set ears, Osteopenia, Eczematoid dermatitis, Frontal bossing, Narrow nose, Micrognathia, Decr...	OMIM:618336
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Upslanted palpebral fissure, Decreased body weight, Microcephaly, Brac...	ORPHA:93950
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Depressed nasal bridge, Abnormal dental morphology,...	OMIM:277600
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Low-set ears, Toe syndactyly, Dilatation of the ventricular cavity, Narrow mouth, Cryptorchidism,...	ORPHA:459070
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas	ORPHA:1879
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Constipation, Li...	ORPHA:35708
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Single transverse palmar crease, Hirsutism, Protruding ear, Ataxia, Unsteady gait, Mandibular pro...	OMIM:300861
Gerstmann-Straussler Disease	Spasticity, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Pa...	OMIM:137440
Postaxial Acrofacial Dysostosis	Cupped ear, Conductive hearing impairment, Supernumerary nipple, Low-set, posteriorly rotated ear...	ORPHA:246
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Hearing impairment, Small nail, Delayed cranial suture closure, Micrognathia, Epica...	OMIM:268310
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Cleft Lip/Palate	Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Dental ma...	ORPHA:199306
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, Short stat...	OMIM:612463
48,Xyyy Syndrome	Male hypogonadism, Primary gonadal insufficiency, Azoospermia	ORPHA:99329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Muscular dystrophy	OMIM:613151
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Conductive hearing impairment, Small nail, Atresia of the external...	OMIM:608257
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca...	OMIM:610536
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi...	OMIM:600920
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hearing impairment, Joint contracture of the 5th finger, Mitral valve prolapse, Ven...	OMIM:602782
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Thin ribs, Kyphosis, Inguinal hernia, Barre...	OMIM:610915
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Micrognathia, Narrow mouth, Radioulnar synostosis, Hypertelorism, Absent earlobe, D...	OMIM:130070
Lig4 Syndrome	Wide nasal bridge, Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Prominent nose, Upsl...	OMIM:606593
Rothmund-Thomson Syndrome Type 1	Carious teeth, Porokeratosis, Alopecia totalis, Patellar aplasia, Cryptorchidism, Telangiectasia,...	ORPHA:221008
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Cockayne Syndrome Type 3	Lentiglobus, Dry hair, Aortic root aneurysm, Premature graying of hair, Corneal ulceration, Vascu...	ORPHA:90324
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Carious teeth, Joint dislocation, Abnormal rib morphology, Spina...	ORPHA:582
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Non-Distal Deletion 10Q	Wide nasal bridge, Upslanted palpebral fissure, Epicanthus, Ptosis, Biparietal narrowing, Synophrys	ORPHA:1581
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Calciphylaxis	Hyperphosphatemia, Arterial calcification	ORPHA:280062
Multiple System Atrophy, Cerebellar Type	Orthostatic syncope, Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia,...	ORPHA:227510
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis, Gastroesophageal reflux, Mandibular prognathia, Ataxia	OMIM:619971
Martin-Probst Syndrome	Low-set ears, Wide nasal bridge, Dental malocclusion, Thick lower lip vermilion, Umbilical hernia...	OMIM:300519
Apert Syndrome	Large fontanelles, Sensorineural hearing impairment, Hypertelorism, Cloverleaf skull, Choanal atr...	ORPHA:87
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, P...	OMIM:606407
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Choanal atresia, Osteopenia, Proptosis, Hearing impairment, Pathologic fractur...	OMIM:156400
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes...	OMIM:615812
Keutel Syndrome	Short distal phalanx of finger, Alopecia, Hearing impairment, Recurrent otitis media, Recurrent s...	ORPHA:85202
Fontaine Progeroid Syndrome	Low-set ears, Small nail, Aplastic/hypoplastic lacrimal glands, Micrognathia, Narrow mouth, Protr...	OMIM:612289
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Open mouth, Protruding tongue, Sensorineural hearing impairment, Everted lower lip ...	OMIM:212066
Gapo Syndrome	Delayed cranial suture closure, Micrognathia, Sparse eyelashes, Epicanthus, Hypertelorism, Sparse...	OMIM:230740
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Distal Duplication 17Q	Overlapping toe, Genu valgum, Micrognathia, Cryptorchidism, Arachnodactyly, Low posterior hairlin...	ORPHA:3379
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Carious teeth, Long philtrum, Large earlobe, Long eyelashes, Joint hypermobility, Elbow hypertric...	OMIM:620191
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Sparse eyelashes, Sensorineural hearing impairment, Erythroderma, Patellar dislocat...	ORPHA:35173
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Cholestasis, Mitral regurgitation, Rhabdomyolysis, Generalized muscle...	ORPHA:746
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Chorea, Gait ataxia, Myoclonus, Ophthalmoplegia, Left ventricular hypertr...	OMIM:618321
Infant Botulism	Mydriasis, Hypotension, Ptosis, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension, Chronic...	ORPHA:178478
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Tetanus	Respiratory distress, Tremor, Rigidity, Opisthotonus, Tachypnea, Hypertonia, Bradycardia, Spastic...	ORPHA:3299
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Hernia, Everted lower lip vermilion, Blepharophimosis, Sparse hair, High...	ORPHA:3051
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hearing impairment, Premature loss of primary teeth, Optic nerve compr...	ORPHA:667
Trisomy 12P	Low-set ears, Wide nasal bridge, Proptosis, Downturned corners of mouth, Supernumerary nipple, Sh...	ORPHA:1699
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradykinesia, Slu...	OMIM:618317
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Mosaic Trisomy 8	Narrow pelvis bone, Limitation of joint mobility, Hearing impairment, Camptodactyly of finger, Ma...	ORPHA:96061
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Apnea, Left ventricular ...	OMIM:618228
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Hearing impairment, Long philtrum, Delayed cranial suture closure, Pe...	ORPHA:357058
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Obesity, Low posterior hairline, Cubitus valgus, Epicanthus, High palate, Short nose	OMIM:300577
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Colorectal polyposis	ORPHA:160148
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Obesity, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:276630
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Thin upper ...	OMIM:615419
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Rhabdomyolysis,...	ORPHA:90068
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Downslanted palpebral fissures, Low-set, posteriorly rotated ear...	ORPHA:1035
Xp22.13P22.2 Duplication Syndrome	Flared nostrils, High anterior hairline, Broad nasal tip, Recurrent upper respiratory tract infec...	ORPHA:284180
Edinburgh Malformation Syndrome	Low-set ears, Choanal atresia, Downturned corners of mouth, Failure to thrive, Anteverted nares, ...	ORPHA:1895
Ramos-Arroyo Syndrome	Keratitis, Choriocapillaris atrophy, Chorioretinal atrophy, Aganglionic megacolon, Abnormal auton...	ORPHA:1051
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Spinal canal stenos...	OMIM:616007
Seckel Syndrome 9	Clitoral hypertrophy, Hypertrichosis, Intrauterine growth retardation, Micrognathia, Congenital d...	OMIM:616777
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Hepatic steatosis, Rhabdomyolysis, Hypothermia, H...	ORPHA:17
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Delayed cranial suture closure, Micrognathia, Reduced s...	OMIM:248370
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Cerebellar-Facial-Dental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Wide nasal brid...	ORPHA:444072
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradykinesia, Short stature	OMIM:619052
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Highly arched eyebrow, Macroglossia, Hearing impairment, Hamartoma of tongue, Ma...	OMIM:619775
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat...	ORPHA:2394
Achondrogenesis Type 1A	Narrow chest, Abnormal enchondral ossification, Micromelia, Umbilical hernia, Micrognathia, Multi...	ORPHA:93299
Sandestig-Stefanova Syndrome	Low-set ears, Highly arched eyebrow, Wide nasal bridge, Retrognathia, Sparse medial eyebrow, Unde...	OMIM:618804
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Fragile X Syndrome	Gastroesophageal reflux, Otitis media, Mitral valve prolapse, Joint hypermobility, Protruding ear...	ORPHA:908
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholo...	ORPHA:1802
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,...	OMIM:615024
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati...	OMIM:277300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cataract, Microcornea, Micrognathia, Retinopathy, Talipes equinovarus, Macular atr...	OMIM:616171
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel mor...	ORPHA:1133
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, Frontal upsweep of hair, Epicanthus, Hypertelorism, High palate, Short nose, Macrot...	OMIM:617061
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Clitoral hypertrophy, Gastroesophageal reflux, Retrognathia, Furrowed tongue, Tente...	OMIM:616449
Chops Syndrome	Hearing impairment, Aspiration pneumonia, Curly hair, Hypertelorism, Short nose, High, narrow pal...	OMIM:616368
Nager Syndrome	Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Non-midlin...	ORPHA:245
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
15Q13.3 Microdeletion Syndrome	Short stature, Clinodactyly of the 5th finger, Protruding ear, Macrotia	ORPHA:199318
Osteogenesis Imperfecta, Type Xx	Low-set ears, Highly arched eyebrow, Crumpled ear, Narrow palate, Mandibular prognathia, Sparse l...	OMIM:618644
Dpm1-Cdg	Hepatic fibrosis, Muscular dystrophy, Optic atrophy, Failure to thrive, Hepatosplenomegaly, Hepat...	ORPHA:79322
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure	ORPHA:70472
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Multiple System Atrophy	Orthostatic syncope, Resting tremor, Postural tremor, Gait ataxia, Rigidity, Orthostatic hypotens...	ORPHA:102
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Splenomegaly, Nonimmune hydrops fetalis, Joint contracture, Hepatomegaly, Flexion...	OMIM:608540
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhe...	ORPHA:397685
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Bradykinesia	ORPHA:306669
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Proptosis, Carpal osteolysis, Wrist swelli...	OMIM:166300
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Gastroesophageal reflux, Foot joint contracture, Pulmonary arteria...	ORPHA:220402
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
White-Sutton Syndrome	Low-set ears, Abnormality of the outer ear, Micrognathia, Congenital diaphragmatic hernia, Sensor...	OMIM:616364
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Difficulty walking, Respiratory distress, Ventricular septal defect, Tachypnea,...	OMIM:610978
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Parakeratosis, Aca...	ORPHA:166113
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Median cl...	ORPHA:2213
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram...	OMIM:613135
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Arts Syndrome	Progressive muscle weakness, Growth delay, Tetraplegia, Ataxia	OMIM:301835
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Infancy onset short-trunk short stature, Joint contracture of the hand...	ORPHA:1159
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Difficulty walking, Micrognathia, Myopathy, Sensorineural heari...	ORPHA:536545
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hearing impairment, Micrognathia, Ventricular septal defect, Abnormal toenail morphol...	ORPHA:444077
Joubert Syndrome 3	Episodic tachypnea, Oculomotor apraxia, Central apnea, Atrial septal defect, Ataxia	OMIM:608629
Developmental And Epileptic Encephalopathy 80	Low-set ears, Wide nasal bridge, Proptosis, Hearing impairment, Small nail, Long philtrum, Failur...	OMIM:618580
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Arrhythmia, Kyphosis	OMIM:618453
Rigid Spine Syndrome	Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Cardiac conduction ab...	ORPHA:97244
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre...	OMIM:618780
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Dilated cardiomyopathy, Hypoglycemia, Elbow flexion contracture, Apnea, Increased mu...	OMIM:608836
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Bartsocas-Papas Syndrome 1	Axillary pterygium, Hypoplastic scapulae, Popliteal pterygium, Absent thumb, Short thumb, Pterygi...	OMIM:263650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Wide anterior fontanel, Umbilical hernia, Large for gestational age, Micrognathia, Inguinal herni...	OMIM:618272
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Vitiligo, Nail dystrophy, Ichthyosis, Patch...	ORPHA:79153
Craniometadiaphyseal Dysplasia	Low-set ears, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, ...	OMIM:269300
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Sensorineural h...	ORPHA:309282
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Myotonic Dystrophy 2	Sternocleidomastoid amyotrophy, Insulin insensitivity, Palpitations, Type II diabetes mellitus, P...	OMIM:602668
Dysbetalipoproteinemia	Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglycer...	ORPHA:412
Geleophysic Dysplasia 2	Aortic valve stenosis, Thickened skin, Cone-shaped epiphysis, Limitation of joint mobility, Tip-t...	OMIM:614185
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Delayed eruption of teeth, Dry skin, Increased body weight, Wormian b...	OMIM:614450
Beaulieu-Boycott-Innes Syndrome	High anterior hairline, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Short p...	OMIM:613680
Cinca Syndrome	Patellar overgrowth, Progressive sensorineural hearing impairment, Hearing impairment, Proptosis,...	OMIM:607115
Elsahy-Waters Syndrome	Low-set ears, Hypertelorism, High palate, Increased cup-to-disc ratio, Wide nose, Hypoplasia of t...	OMIM:211380
Autosomal Dominant Primary Microcephaly	Short stature, Protruding ear, Tooth agenesis	ORPHA:2514
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Pectus carinatum, Kyphosis, Failure to thrive	OMIM:620007
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Lopes-Maciel-Rodan Syndrome	Small hand, Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, ...	OMIM:617435
Poikiloderma With Neutropenia	Carious teeth, Recurrent otitis media, Micrognathia, Low posterior hairline, Neutropenia, Hyperte...	OMIM:604173
Noonan Syndrome 6	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Juvenile myelomonocytic leukemia, Downsl...	OMIM:613224
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Albinism, Hypopigmentation of hair, Osteoporosis	ORPHA:2786
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Genu valgum, Dee...	ORPHA:534
Rothmund-Thomson Syndrome, Type 2	Small hand, Premature graying of hair, Micrognathia, Cryptorchidism, Sparse eyelashes, Absent eye...	OMIM:268400
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Narrow chest, Joint dislocation, Failure to thrive, Micromelia, Bell-shaped thorax, J...	ORPHA:1842
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Prader-Willi Syndrome Due To Translocation	Carious teeth, Micrognathia, Deeply set eye, Everted lower lip vermilion, Hypertelorism, Microdon...	ORPHA:177907
Carpenter Syndrome 1	Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss...	OMIM:201000
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle...	ORPHA:1883
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Broad phalanx of the toes, Cutane...	OMIM:614378
Beta-Ketothiolase Deficiency	Hypotension, Spasticity, Hypoglycemia, Hyperglycemia, Tachypnea, Weight loss, Ataxia, Hepatomegal...	ORPHA:134
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Difficulty walking, Joint stiffness, Enla...	OMIM:208230
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Postnatal growth retardation, Micrognathia, Limited elbow movement, Hig...	OMIM:300590
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Hearing impairment, Hypertelorism, Sparse eyebrow, Downturned corners of mouth, ...	ORPHA:487796
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Hemiplegia/hemiparesis, Arrhy...	ORPHA:156
Classic Galactosemia	Hypoglycemia, Cryptorchidism, Premature ovarian insufficiency, Jaundice, Decreased serum insulin-...	ORPHA:79239
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Cardiomyopathy, Hypoglycemia, Intrauterine growth retardation, Feeding d...	OMIM:617710
2Q31.1 Microdeletion Syndrome	Low-set ears, Abnormal hair morphology, Micrognathia, Epicanthus, Everted lower lip vermilion, Hy...	ORPHA:251014
Non-Syndromic Metopic Craniosynostosis	Wide nasal bridge, Trigonocephaly, Hypotelorism, Omphalocele, Synophrys	ORPHA:3366
Acces Syndrome	Low-set ears, Sparse scalp hair, Retrognathia, Ectrodactyly, Supernumerary nipple, Protruding ear...	OMIM:619959
Heart Defects-Limb Shortening Syndrome	Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:1354
Zebra Body Myopathy	Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus...	ORPHA:97240
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Ascites, Pleural effusion, Bradycardia, Cerebral hemorrhage, Hepat...	OMIM:617397
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Hypertrophic cardiomyopathy, Inability to walk, Loss of ambulation, Gait disturbanc...	OMIM:618241
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Elbow dislocation, Camptod...	ORPHA:628
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Anosmia, Hearing impairment, Cleft upper lip, Hyposmia, Hypotelorism, Hypogonadotropic hypogonadi...	OMIM:244200
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Elevated circulating acylcarnitine concentration, Hepatic failure, Eleva...	ORPHA:228305
Fibrochondrogenesis 1	Low-set ears, Wide anterior fontanel, Joint contracture of the hand, Depressed nasal bridge, Prop...	OMIM:228520
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Lo...	OMIM:122470
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Abnormal B cell morphology, Depressed nasal bridge, Conductive hearing impairment, ...	OMIM:616910
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Small nail, Micrognathia, Sensorineural hearing impairment, Deeply set eye, Epicant...	OMIM:616975
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Nemaline Myopathy 5C, Autosomal Dominant	Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,...	OMIM:620389
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Meier-Gorlin Syndrome 1	Low-set ears, Joint contracture of the hand, Atresia of the external auditory canal, Hearing impa...	OMIM:224690
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia, Tracheoesophageal fistula, Intestinal atresia	ORPHA:93941
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair	OMIM:607903
Fabry Disease	Congestive heart failure, Lymphedema, Transient ischemic attack, Angina pectoris, Arrhythmia, Lef...	OMIM:301500
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Sparse eyebrow, Downslanted palpebral fissures, Stenosis of the external auditory ca...	OMIM:606164
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Optic atrophy, Small for gestational age, Recurrent upper respiratory...	ORPHA:3078
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Micrognathia, Large fontanelles, Humeroradial synostosis, Sensori...	OMIM:151050
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Carious teeth, Xerostomia, Gastroesophageal reflux, Congestive heart failure...	ORPHA:220393
Kniest Dysplasia	Delayed epiphyseal ossification, Depressed nasal bridge, Conductive hearing impairment, Proptosis...	OMIM:156550
Otopalatodigital Syndrome, Type I	Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Hypertelorism, Dislocated radia...	OMIM:311300
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Proptosis, Bulbous nose, Prominent nose, Anteverted nares, Upslanted palpebral fissure, Microcephaly	OMIM:618492
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short...	OMIM:268305
Multiple System Atrophy, Parkinsonian Type	Orthostatic syncope, Resting tremor, Postural tremor, Gait ataxia, Rigidity, Orthostatic hypotens...	ORPHA:98933
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Short stepped shuffling gait, Shuffling gait, Falls, Parkinsonism, Bradykinesia	ORPHA:412066
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Low-set ears, Abnormality of the outer ear, Thick upper lip vermilion, Narrow mouth, Short lingua...	OMIM:617360
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Failure to thrive, Delayed eruption of teeth, Enlargeme...	OMIM:264700
Potocki-Shaffer Syndrome	Wide nasal bridge, Sparse lateral eyebrow, Downturned corners of mouth, Underdeveloped nasal alae...	OMIM:601224
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Arrhythmia, Elevated jugular venous pressure, Hypogonadotropic hypogonadis...	ORPHA:465508
Spastic Paraplegia 74, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy	OMIM:616451
Braddock-Carey Syndrome 1	Wide nasal bridge, Downslanted palpebral fissures, Anteverted nares, Thick vermilion border, Tele...	OMIM:619980
Chromomycosis	Atypical scarring of skin, Keratitis, Eyelid retraction, Keratoconjunctivitis sicca, Lymphangiect...	ORPHA:182
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear...	ORPHA:1131
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Low-set ears, Dry hair, Cutaneous finger syndactyly, Micrognathia, Sparse eyelashes, Anodontia, B...	OMIM:225060
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy,...	OMIM:615895
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Poems Syndrome	Thickened skin, Increased circulating prolactin concentration, Hypertrichosis, Sclerosis of hand ...	ORPHA:2905
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Entropion, Keratoconjunctivitis ...	OMIM:278730
Deafness, Conductive, With Malformed External Ear	Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles...	OMIM:221300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia, Craniosyno...	OMIM:241520
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Short palpebral fissure, Natal tooth, Umbil...	OMIM:617237
Monosomy 9P	Low-set ears, Limitation of joint mobility, Atresia of the external auditory canal, Micrognathia,...	ORPHA:261112
Glycogen Storage Disease Ixb	Diarrhea, Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen con...	OMIM:261750
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Highly arched eyebrow, Short palpebral fissure, Underdeveloped nasal alae, Camptodactyly of finge...	ORPHA:2083
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Fine hair, Eczematoid dermatitis, Deeply set eye, Elevated circulating...	OMIM:272300
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites	ORPHA:295
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Obesi...	OMIM:618395
Galloway-Mowat Syndrome 9	Low-set ears, Coarse hair, Secondary microcephaly, Hypotelorism, Almond-shaped palpebral fissure,...	OMIM:619603
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l...	OMIM:600175
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, Kyphoscolios...	OMIM:612079
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
19Q13.11 Microdeletion Syndrome	Congenital hip dislocation, Sparse lateral eyebrow, Hearing impairment, Supernumerary nipple, Fin...	ORPHA:217346
Schimke Immunoosseous Dysplasia	Osteopenia, Shallow acetabular fossae, Coarse hair, Elevated circulating thyroid-stimulating horm...	OMIM:242900
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Large for gestational age, Mic...	ORPHA:314588
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow	ORPHA:3406
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Open mouth, Metatarsus valgus, Joint hypermobility, Short philtrum, Sen...	ORPHA:2479
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Ca...	ORPHA:1488
Autosomal Recessive Spastic Paraplegia Type 67	Difficulty walking, Spastic gait, Abnormal myelination, Generalized amyotrophy	ORPHA:401820
Cockayne Syndrome	Lentiglobus, Optic atrophy, Pigmentary retinopathy, Cataract, Retinal arteriolar constriction, Ba...	ORPHA:191
Pfeiffer Syndrome Type 1	Low-set ears, Depressed nasal bridge, Proptosis, Hearing impairment, Bicoronal synostosis, Brachy...	ORPHA:93258
Camurati-Engelmann Disease, Type 2	Osteopenia, Skeletal muscle atrophy, Hypogonadism, Hyperostosis, Mitral regurgitation, Hip contra...	OMIM:606631
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Talipes...	ORPHA:1900
Carpenter Syndrome 2	Low-set ears, Carious teeth, Supernumerary nipple, Narrow naris, Sensorineural hearing impairment...	OMIM:614976
Cone-Rod Dystrophy, X-Linked, 3	Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op...	OMIM:300476
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Adams-Oliver Syndrome 2	Low-set ears, Alopecia, Small nail, Micrognathia, Absent distal phalanges, Low anterior hairline,...	OMIM:614219
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Clinodactyly, Inability to walk, Diastasis recti, Ventricular septal def...	ORPHA:488632
Borjeson-Forssman-Lehmann Syndrome	Hearing impairment, Large earlobe, Hypogonadism, Thick eyebrow, Deeply set eye, Camptodactyly of ...	ORPHA:127
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Micrognat...	OMIM:271640
Systemic Sclerosis	Thickened skin, Intestinal bleeding, Finger swelling, Narrow mouth, Telangiectasia, Dysphagia, Al...	ORPHA:90291
17Q24.2 Microdeletion Syndrome	Tooth malposition, Recurrent otitis media, Micrognathia, Deeply set eye, Hypertelorism, Downslant...	ORPHA:529962
Ring Chromosome 7 Syndrome	Prominent crus of helix, Narrow naris, Genu valgum, Narrow mouth, Epicanthus, Short nose, Plagioc...	ORPHA:1449
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Short stature, Irregular vertebral endplates	OMIM:612847
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Inability to walk, Gait ataxia, Enamel hypoplasia...	OMIM:617915
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Darier Disease	Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag...	ORPHA:218
Central Core Disease	Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc...	ORPHA:597
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, P...	OMIM:207410
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Hyperammonemia, Arrhythmia, Constipation, Hepatomegaly	ORPHA:35
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Failure to thrive, Myositis, Telangiectasia, Tachypnea, Raynaud phenomenon	OMIM:615934
Cerebrooculonasal Syndrome	Low-set ears, Sparse eyelashes, Epicanthus, Hypertelorism, High palate, U-Shaped upper lip vermil...	OMIM:605627
Diamond-Blackfan Anemia 21	Low-set ears, Genu valgum, Micrognathia, Narrow mouth, Clinodactyly of the thumb, Aortic regurgit...	OMIM:620072
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Ataxia, Short stature, Bradykinesia	OMIM:617836
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Atresia of the external auditory canal, Increased mean corpuscular...	OMIM:300946
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Calcification of falx cerebr...	OMIM:177850
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne...	OMIM:619790
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ...	OMIM:610505
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal ossification involving the femoral head and neck, Abnormal bone ossification, ...	ORPHA:2114
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Deeply set eye, Epicanthus, Narrow palpebral fissure, Hypertelorism, ...	OMIM:613458
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Tre...	ORPHA:240071
Holoprosencephaly 9	Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Short hard palate, E...	OMIM:610829
Congenital Insensitivity To Pain With Severe Intellectual Disability	Keratitis, Talipes equinovalgus, Micrognathia, Tibial bowing, Congenital bilateral hip dislocatio...	ORPHA:453510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Small hand, Large fleshy ears, Narrow mouth, Atrial sept...	ORPHA:280633
Spinocerebellar Ataxia Type 13	Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clumsiness, Torticollis, Short stature, ...	ORPHA:98768
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Edema, Atelectasis	OMIM:267450
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Natal tooth, Clinodactyly, Small nail, Atresia of the external audit...	OMIM:620186
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic...	OMIM:243180
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl...	OMIM:620068
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Proptosis, Narrow nasal bridge, Malar flattening, Microcephaly, Convex nasal ridge, Overhanging n...	ORPHA:85172
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Low posterior hairline, Epicanthus, Curly hair, Hypertelorism, High palate, Sparse ...	OMIM:617506
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Hypertrophic cardiomyopathy, Difficulty walking, Portal hypertension, Spleno...	ORPHA:309854
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Triang...	ORPHA:98915
Intellectual Developmental Disorder, Autosomal Dominant 64	Low-set ears, Depressed nasal bridge, Plagiocephaly, Cupped ear, Bulbous nose, Anteverted nares, ...	OMIM:619188
Hypophosphatasia, Adult	Chondrocalcinosis, Rickets, Carious teeth, Osteomalacia, Pathologic fracture, Increased susceptib...	OMIM:146300
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Leukodystrophy, Hypomyelinating, 10	Low-set ears, Hypoplasia of the antihelix, Prominent eyelashes, Hearing impairment, Long philtrum...	OMIM:616420
Dystonia 16	Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Gait disturbance, Abnormal pyr...	OMIM:612067
Intellectual Developmental Disorder, X-Linked 111	Unsteady gait, Kyphoscoliosis	OMIM:301107
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypogonadism, Nephrolithiasis, Cystinuria, Growth delay	ORPHA:163693
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Prominent nose, Hypotelorism, Madelung deformity, Microcephaly, Bilateral breast hypopla...	ORPHA:319675
Bresek Syndrome	Low-set ears, Alopecia, Hearing impairment, Decreased testicular size, Intrauterine growth retard...	ORPHA:85284
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Hypotrichosis 10	Abnormality of the dentition, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of ...	OMIM:614238
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Downslanted palpebral fissures, Bulbous nose, Palpebral edema, Tented upp...	ORPHA:261144
Fanconi Anemia, Complementation Group D2	Low-set ears, Deficient excision of UV-induced pyrimidine dimers in DNA, Hearing impairment, Panc...	OMIM:227646
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ...	ORPHA:392
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Microcephaly, Hepatomegaly, Increased bone miner...	ORPHA:2204
Mullegama-Klein-Martinez Syndrome	Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern...	OMIM:301022
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Genu valgum, Myopathy, Genu varum, Facial diplegi...	ORPHA:171436
Trisomy 17P	Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Generalized hirsutism, Low posterio...	ORPHA:261290
Cardiofacioneurodevelopmental Syndrome	Aplasia/Hypoplasia of the nails, Cleft lip, Micrognathia, Upslanted palpebral fissure, Hypotelori...	OMIM:619123
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Intrauterine growt...	OMIM:619051
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ga...	ORPHA:3287
Brachycephaly, Trichomegaly, And Developmental Delay	Low-set ears, Highly arched eyebrow, Bifid uvula, Depressed nasal bridge, Conductive hearing impa...	OMIM:617412
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Absent toenail, Inguinal hernia, Patent foramen ovale, Hypo...	OMIM:616028
Neurodevelopmental Disorder With Spasticity And Poor Growth	Low-set ears, High, narrow palate, Flat occiput, Failure to thrive, Large earlobe, Secondary micr...	OMIM:618076
Secondary Short Bowel Syndrome	Vomiting, Diarrhea, Volvulus, Failure to thrive, Villous atrophy, Abnormal small intestine morpho...	ORPHA:95427
Morgagni-Stewart-Morel Syndrome	Obesity, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus	ORPHA:77296
Ménétrier Disease	Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Stomach cancer, Abnorma...	ORPHA:2494
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hamartoma of the orbital region, Sparse eyebrow, Hypoplasia of the maxilla, Cupped ...	ORPHA:2399
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Short stature, Kyphoscoliosis	OMIM:600384
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Upslanted palpebral fissure, Hirsutism, Deeply set eye, Microcephaly, Narrow palpebral fissure, H...	OMIM:618087
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Depressed nasal bridge, Recurrent pneumonia, Proptosis, Enlarged joints, Premature osteoarthritis...	OMIM:215150
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Low-set ears, High, narrow palate, Long philtrum, Prominent nasal bridge, Upslanted palpebral fis...	OMIM:619880
Microcephaly 3, Primary, Autosomal Recessive	Proptosis, Widely spaced teeth, Prominent nose, Sensorineural hearing impairment, Microcephaly, P...	OMIM:604804
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Fine hair, Prominent ear helix, Elbow flexion contracture, Underdeveloped nasal alae,...	OMIM:614438
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Dilated cardiomyopathy, Congestive heart failure, Bilateral cry...	ORPHA:2326
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n...	ORPHA:226307
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi...	OMIM:619797
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Retrognathia, Micrognathia, Decreased body weight, Decreased calvarial ossification, C...	OMIM:618265
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Delayed eru...	OMIM:265800
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypertrophic cardiomyopathy, Aggressive behavior, Elevated circulating tiglylglycin...	OMIM:300438
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Diabetes insipidus, Infertility	ORPHA:1445
Macs Syndrome	Eclabion, Alopecia, Sparse eyebrow, Long philtrum, Umbilical hernia, Recurrent aphthous stomatiti...	OMIM:613075
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness, Generalized hyperpigmentation, Abnormality of...	ORPHA:816
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Retinal degeneration, Cone/...	OMIM:602271
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Failure to thrive, Enlargement of the wrists, Hypophosp...	OMIM:241530
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Increased adipose tissue, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:617404
Dermatopathia Pigmentosa Reticularis	Reticulate pigmentation of oral mucosa, Alopecia of scalp, Nail dystrophy, Reticular hyperpigment...	OMIM:125595
X-Linked Intellectual Disability, Snyder Type	Low-set ears, Decreased muscle mass, Narrow mouth, Cryptorchidism, Arachnodactyly, Everted lower ...	ORPHA:3063
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus	ORPHA:1455
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Proptosis, Hearing impairment, Joint stiffness, Redundant skin, Excessive...	ORPHA:1860
Spondyloepiphyseal Dysplasia Tarda	Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Barre...	ORPHA:93284
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Spasticity, Second degree atrioventricular block, Cerebral palsy, Biventricular hypertrophy, Pate...	OMIM:615474
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Hepatic steatosis, Hypothermia, Feed...	OMIM:251880
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Vertebral wedging, Kyphoscoliosis, Short stature, Skeletal muscle hypertrophy	OMIM:255710
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Huntington Disease-Like 2	Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia	OMIM:606438
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Secondary amenorrhea, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diab...	ORPHA:3085
Bruck Syndrome	Platyspondyly, Kyphosis, Pterygium, Joint stiffness, Wormian bones, Osteoporosis, Scoliosis, Arth...	ORPHA:2771
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Muscular dystrophy	ORPHA:324416
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Left ventric...	OMIM:616733
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Hearing impairment, Abnormal blood phosphate concentration, Wormian bo...	OMIM:619795
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Blepharospasm, Spasticity, Chorea, Tremor, Rigidity, Babinski sign, Parkinsonism, Hypomim...	OMIM:606159
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Reduced bone mineral density, Ventricular septal defect, Atrial sept...	OMIM:615279
Microcephaly-Deafness-Intellectual Disability Syndrome	Low-set ears, Cupped ear, Micrognathia, Abnormal palate morphology, Sensorineural hearing impairm...	ORPHA:2533
46,Xy Sex Reversal 4	Depressed nasal ridge, Long philtrum, Recurrent otitis media, Trigonocephaly, Distal symphalangis...	OMIM:154230
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Supernumerary nipple, Dry skin, Deeply set eye, Epicanthus, Hypertelorism, Short no...	ORPHA:1812
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Say-Barber-Miller Syndrome	Tooth malposition, Carious teeth, Abnormality of the hairline, Micrognathia, Cryptorchidism, High...	ORPHA:3132
Myosclerosis, Autosomal Recessive	Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles...	OMIM:255600
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Elbow flexion contracture, Inguinal hernia, Knee flexion contractur...	OMIM:277720
Squalene Synthase Deficiency	Low-set ears, Depressed nasal bridge, Retrognathia, Elbow flexion contracture, Dry skin, Failure ...	OMIM:618156
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Hirsu...	OMIM:618005
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Protruding ear, Woolly hair, Sparse hair, Everted lower lip vermilion	OMIM:278200
Macrocephaly, Benign Familial	Long philtrum, Biparietal narrowing, Macrocephaly, Dolichocephaly, Frontal bossing	OMIM:153470
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Type 2 muscle fiber predominance, Skeletal muscle atrophy, Gastroesophageal reflux, ...	OMIM:615471
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Cousin Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Dislocation of the femoral head,...	OMIM:260660
Congenital Myopathy 15	Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred...	OMIM:620161
Hypotrichosis Simplex Of The Scalp	Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal...	ORPHA:90368
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Hearing impairment, Postnatal growth retardation, Micrognathia, Crypt...	OMIM:300882
3Q29 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Gastroesophageal reflux, Dental crowding, Joint hyper...	ORPHA:65286
Pentasomy X	Small hand, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Radioulnar ...	ORPHA:11
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Hypertrophic cardiomyopathy, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormal...	ORPHA:79279
Becker Nevus Syndrome	Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios...	ORPHA:64755
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Low-set ears, Osteopenia, Depressed nasal bridge, Macrocephaly, Craniosynostosis, Hypercalcemia, ...	OMIM:614732
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Depressed nasal bridge, Proptosis, Limitation of joint mobility, Abnormal joint morp...	ORPHA:1427
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Huntington Disease	Chorea, Gait ataxia, Bradykinesia, Rigidity	OMIM:143100
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Conjunctivitis, Micrognathia, Corneal ulceration	OMIM:153400
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Spastic hemiparesis, Myoclonus...	ORPHA:282166
Pontocerebellar Hypoplasia Type 10	Wide nasal bridge, Highly arched eyebrow, Optic atrophy, Proptosis, Underdeveloped nasal alae, Lo...	ORPHA:411493
Antisynthetase Syndrome	Aortic regurgitation, Skin rash, Myositis, Keratoconjunctivitis sicca, Pulmonary arterial hyperte...	ORPHA:81
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Open mouth, Myopathy, Protruding ear, Gait disturbance, Short stature	ORPHA:85329
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Hypothermia, Limb hypertonia, Joint contracture, Bradycardia, Feeding difficulties	OMIM:614498
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Parakeratosis, Abnormal dental morphology	OMIM:618531
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Small fo...	OMIM:615368
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Small hand, Dilated cardiomyopathy, Abnormal hand morphology, Postnatal growth retardation, Abnor...	OMIM:300845
Vici Syndrome	Optic atrophy, Hypopigmentation of the skin, Depressed nasal tip, Joint stiffness, Abnormality of...	ORPHA:1493
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Meier-Gorlin Syndrome 6	Patellar aplasia, Short nose, Depressed nasal ridge, Downslanted palpebral fissures, Stenosis of ...	OMIM:616835
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ...	ORPHA:1797
Temple Syndrome	Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti...	ORPHA:254516
H Syndrome	Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Recur...	ORPHA:168569
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Hearing impair...	OMIM:612562
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Avian Influenza	Congestive heart failure, Respiratory distress, Rhabdomyolysis, Tachypnea, Dyspnea	ORPHA:454836
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Dilated cardiomyopathy, Growth delay, Failure to thrive in infancy...	ORPHA:231226
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, B...	ORPHA:371428
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Limitation of joint mobility, Arterial stenosis, Cerebral artery athero...	ORPHA:1192
Mitochondrial Neurogastrointestinal Encephalomyopathy	Vomiting, Diarrhea, Gastroesophageal reflux, Decreased muscle mass, Decreased motor nerve conduct...	ORPHA:298
Laron Syndrome	Truncal obesity, Hypercholesterolemia, Hypoglycemia	ORPHA:633
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Coffin-Siris Syndrome 1	Low-set ears, Facial hypertrichosis, Dry hair, Hearing impairment, Hypoplastic fifth fingernail, ...	OMIM:135900
Cardiogenic Shock	Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea...	ORPHA:97292
Noonan Syndrome 7	Low-set ears, Depressed nasal bridge, Palpebral thickening, Downslanted palpebral fissures, Large...	OMIM:613706
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Hy...	ORPHA:79151
Dubowitz Syndrome	Hearing impairment, Delayed cranial suture closure, Dry skin, Micrognathia, Abnormal antihelix mo...	ORPHA:235
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Sparse hair, Corneal ...	ORPHA:1806
Distal Duplication 5Q	Low-set ears, Carious teeth, Eczematoid dermatitis, Long philtrum, Downslanted palpebral fissures...	ORPHA:96097
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Pili Torti	Abnormality of the dentition, Alopecia, Hearing impairment, Abnormal dental enamel morphology, Ab...	ORPHA:2889
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly	OMIM:607685
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Knee flexion contracture, Hip contracture, S...	OMIM:602484
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Proptosis, Limitation of joint mobility, Hearing impairment, Redundant sk...	ORPHA:93274
Meier-Gorlin Syndrome 3	Low-set ears, Micrognathia, Narrow mouth, Patellar aplasia, Aplasia/Hypoplasia of the patella, Ge...	OMIM:613803
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Hepatomegaly, Pulmonary insufficien...	OMIM:619433
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Facial palsy...	ORPHA:3416
Oculopharyngeal Muscular Dystrophy	Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology	ORPHA:270
Martsolf Syndrome 1	Low-set ears, Tooth malposition, Micrognathia, Abnormal toenail morphology, Low posterior hairlin...	OMIM:212720
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, B...	OMIM:216340
Rothmund-Thomson Syndrome Type 2	Carious teeth, Porokeratosis, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving bo...	ORPHA:221016
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Ophthalmoparesis, Second degree atrioventricular block, Periodic hypo...	ORPHA:79102
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,...	OMIM:122860
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal...	ORPHA:565612
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Pulmonary hemorrhage, Tachypnea	OMIM:616414
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Micrognathia, Epicanthus, Microc...	ORPHA:1913
Distal Deletion 9P	Aplasia/Hypoplasia of the earlobes, High, narrow palate, Abnormal helix morphology, Abnormality o...	ORPHA:1642
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment	ORPHA:2690
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Hypoplasia of the uterus, Frontal balding, Abnormal vagina morphology, Ab...	ORPHA:247768
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hypoglycemic seizu...	OMIM:231530
Ogden Syndrome	Low-set ears, Flared nostrils, Palpebral thickening, Everted upper lip vermilion, Large posterior...	OMIM:300855
Donohue Syndrome	Precocious puberty, Low-set ears, Clitoral hypertrophy, Long penis, Skeletal muscle atrophy, Hype...	OMIM:246200
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Osteomalacia, Difficulty walking, Postnatal growth retardation, ...	ORPHA:289157
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Deeply set eye, Hypertelorism, Short nose, Large earlobe, Thin upper lip vermilion,...	OMIM:618316
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radiou...	OMIM:605282
Autosomal Recessive Spastic Paraplegia Type 53	Pectus carinatum, Kyphosis, Failure to thrive, Joint hypermobility	ORPHA:319199
Bohring-Opitz Syndrome	Limitation of joint mobility, Micrognathia, Severe failure to thrive, Hypertelorism, Bilateral wr...	ORPHA:97297
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Micrognathia, Abnormal corti...	ORPHA:1486
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Frontal bossing, Short nose,...	ORPHA:2547
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Gastrointestinal hemorrhage, Skin rash, Myositis, Gastritis, Keratoconjunc...	ORPHA:809
Ctcf-Related Neurodevelopmental Disorder	Pulmonary hemorrhage, Narrow mouth, Joint contracture of the 5th finger, Mitral regurgitation, Cr...	ORPHA:363611
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth, Pathologic fract...	ORPHA:166277
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi...	OMIM:619574
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Tented upper lip vermilion, Open mouth, Upslanted palpebral fissure, Joint hyper...	OMIM:300143
Intermediate Osteopetrosis	Abnormality of the dentition, Dental malocclusion, Cranial nerve compression, Cortical sclerosis,...	ORPHA:210110
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Glycosuria, Elevated circulating aspartate aminotransfera...	OMIM:617253
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Nemaline bodies, Cardiomyopathy, Long philtrum, Micrognathia, Acetabular dysplasia,...	OMIM:616549
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Wide nasal bridge, Proptosis, Limitation of joint mobility, Pterygium, Micrognathia...	ORPHA:1865
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Spasticity, Growth delay, Clinodactyly, Inability to walk, Tricuspid regurgitation, Mitral regurg...	OMIM:619576
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Fasting hyperinsulinemia, Postnatal growth retardation, Mi...	OMIM:619489
Hyperostosis Cranialis Interna	Abnormal vestibular function, Optic atrophy, Anosmia, Proptosis, Hyposmia, Hyperostosis cranialis...	OMIM:144755
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Behçet Disease	Mitral regurgitation, Weight loss, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal...	ORPHA:117
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Supernumerary nipple, Micrognathia, Sparse eyelashes, Ventricular septal defec...	ORPHA:1071
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa...	ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive 20	Inability to walk, Splenomegaly, Kyphoscoliosis, Hepatomegaly, Ataxia, Camptodactyly, Macroglossi...	OMIM:616354
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Small hand, Xerostomia, Absence of pubertal development, Type II diabetes mellitus...	ORPHA:398069
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Subluxation of the small joints of the hand, Micrognathia, Narr...	ORPHA:536471
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, D...	OMIM:616462
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Conductive hearing impairment, Microretrognathia, Abnorm...	ORPHA:1307
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Wormian bones, Pectu...	OMIM:619131
Telangiectasia, Hereditary Benign	Diffuse telangiectasia, Vascular dilatation	OMIM:187260
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Glandular hypospadias, Penile hypospadias, Myopathy, ...	OMIM:300219
Short Syndrome	Wide nasal bridge, Abnormality of the dentition, Alopecia, Abnormal mandible morphology, Abnormal...	ORPHA:3163
Hartsfield Syndrome	Low-set ears, Hypoplasia of the frontal bone, Hypernatremia, Cleft upper lip, Hypotelorism, Media...	OMIM:615465
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Kniest Dysplasia	Delayed epiphyseal ossification, Depressed nasal bridge, Proptosis, Hearing impairment, Abnormal ...	ORPHA:485
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal dental mo...	ORPHA:248
Atransferrinemia	Congestive heart failure	OMIM:209300
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Low-set ears, Sparse eyebrow, Toe syndactyly, Finger syndactyly, Long philtrum, Retrognathia, Int...	ORPHA:73246
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyr...	ORPHA:13
Geroderma Osteodysplasticum	Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis, Premature ski...	OMIM:231070
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Abnormal calvaria morphology, Joint contracture of the hand, Delayed cranial s...	OMIM:175700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Obesity, Kyphoscoliosis, Short stature, Macroorchidism	ORPHA:3077
Cerebellofaciodental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclu...	OMIM:616202
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Muscle weakness, Splenomegaly, Hyperprolinemia, Feeding diffic...	OMIM:619046
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal obesity, Small for g...	ORPHA:96184
Myhre Syndrome	Low-set ears, Limitation of joint mobility, Hearing impairment, Narrow mouth, Deeply set eye, Ble...	OMIM:139210
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141179
Craniotelencephalic Dysplasia	Craniosynostosis, Hypotelorism, Optic nerve hypoplasia	OMIM:218670
Trimethylaminuria	Tachycardia, Recurrent pneumonia, Hypertension, Splenomegaly	OMIM:602079
Tietz Syndrome	Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation...	ORPHA:42665
Porphyria Cutanea Tarda	Alopecia, Facial hypertrichosis, Scleroderma, Onycholysis, Hyperpigmentation in sun-exposed areas	OMIM:176100
Holoprosencephaly 11	Cleft lip, Proptosis, Polysplenia, Thick eyebrow, Hypotelorism, Microcephaly, Cleft palate, Synop...	OMIM:614226
D-Glyceric Aciduria	Aminoaciduria, Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Patent ductus arteriosus...	OMIM:220120
Juvenile Paget Disease	Abnormality of the dentition, Coarse metaphyseal trabecularization, Hearing impairment, Cranial h...	ORPHA:2801
Faundes-Banka Syndrome	Low-set ears, Long ear, Micrognathia, Deeply set eye, Epicanthus, Hypertelorism, Plagiocephaly, D...	OMIM:619376
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Delayed closure of ...	OMIM:127000
Rett Syndrome	Skeletal muscle atrophy, Failure to thrive, Abnormal pattern of respiration, Difficulty walking, ...	ORPHA:778
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnor...	ORPHA:1716
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Mult...	OMIM:618373
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Furrowed tongue, ...	ORPHA:2930
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Low-set ears, Hypoplastic fifth fingernail, Open mouth, Everted lower lip vermilion, Long nose, H...	OMIM:615866
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Dental malocclusion, Ptosis, High palate, Facial palsy, Arthrogryposis mul...	OMIM:608931
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Delayed eruption of teeth, Tooth agenesis, Abnormal fingernail morph...	ORPHA:2325
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Hypoplasia of the maxilla, Narrow chest, Slender build, Pectus excavatum, Scoli...	OMIM:300676
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Recombinant Chromosome 8 Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Mi...	OMIM:179613
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Micrognathia, Short lingual frenulum, Short hard palate, Epicanthus, Hypertelorism,...	OMIM:180700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear...	OMIM:617519
Schaaf-Yang Syndrome	Low-set ears, Small hand, Arthrogryposis multiplex congenita, Clinodactyly, Open mouth, Cryptorch...	OMIM:615547
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Sparse eyebrow, High anterior hairline, Small nail, Broad columella, Underdeveloped...	OMIM:250410
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Pulmonary arterial hypertension, Cardiomyopathy	OMIM:619003
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Optic atrophy, ...	ORPHA:99956
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Narrow mouth, Microcephaly, Hypotelorism	ORPHA:3469
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Right aortic arch with mirror image branching	OMIM:606217
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology	ORPHA:1513
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Rickets, Bulging epiphyses, Elevated circulating parat...	OMIM:600785
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Hypoketot...	OMIM:610768
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Carious teeth, Micrognathia, Radioulnar synostosis, High palate, Short nose, Osteop...	ORPHA:536467
Prader-Willi Syndrome	Small scrotum, Small hand, Carious teeth, Clinodactyly, Decreased muscle mass, Hyperinsulinemia, ...	OMIM:176270
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Failure to thrive, Optic disc coloboma, Abnormal large intestinal m...	ORPHA:92050
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Flexion contracture of finger, Hyperpigmentation in sun-exposed areas, Subungual h...	ORPHA:69087
Craniolenticulosutural Dysplasia	Carious teeth, Hypertelorism, Brittle hair, High palate, Sparse hair, Osteopenia, Forehead hyperp...	OMIM:607812
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachycardia, Tachypnea, Failure to thrive in infancy	ORPHA:264675
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Joint stiffness, Nail dyst...	ORPHA:1366
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Long eyelashes, Absent scrotum, Hypoplastic labia minora, Cryptorchidism, Low ant...	ORPHA:495875
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta	OMIM:212090
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Alopecia, Limitation of joint mobility, Ectopic ossification in ligament ti...	ORPHA:337
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Narrow mouth, Sensorineural hearing impairment, Aplasia/Hypopla...	OMIM:617063
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,...	OMIM:616867
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona...	ORPHA:500
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Recessive X-Linked Ichthyosis	Hypohidrosis, Hyperkeratosis, Ichthyosis, Cryptorchidism	ORPHA:461
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Genu valgum, Carpal bone hypoplasia, Epicanthus, Hypertelorism, Abnormality of the ...	ORPHA:457395
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Organic aciduria, Hypoglycemia	ORPHA:6
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss	ORPHA:103910
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Ragged-red muscle fibers, Left ven...	OMIM:615418
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Respiratory distress, Tachypnea, Lethargy, Dyspnea, Diabetes mellitus	ORPHA:36238
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Mitral regurgitation, Mitra...	ORPHA:2848
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ta...	OMIM:608594
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Downturned corners of mouth, Fine hair, Hypoglycemia, Relative macrocepha...	ORPHA:231137
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Small nail, Hearing impairment, Sensorineural hearing impairment, Hypertelorism, Short nose, Broa...	OMIM:239300
Retinal Dystrophy With Leukodystrophy	Bilateral ptosis, Prominent ear helix, Hypotelorism, Progressive microcephaly, Cleft palate	OMIM:618863
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Long philtrum, Low-set, posteriorly rotated ears, Post...	ORPHA:263508
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Low-set ears, Abnormality of the dentition, Alopecia, Toe syndactyly, Finger syndactyly, Supernum...	ORPHA:3224
Spastic Paraplegia 20, Autosomal Recessive	Distal amyotrophy, Spastic gait, Lower limb muscle weakness, Difficulty walking, Dysmetria, Kypho...	OMIM:275900
Wolf-Hirschhorn Syndrome	Hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Low posterior hairline, Epican...	ORPHA:280
Parietal Foramina With Cleidocranial Dysplasia	Macrocephaly, Widely patent fontanelles and sutures, Parietal foramina, Microtia	OMIM:168550
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Short stature, Waddling gait, Reduced bone mine...	OMIM:617974
Osteogenesis Imperfecta	Carious teeth, Hearing impairment, Micrognathia, Large fontanelles, Genu valgum, Decreased skull ...	ORPHA:666
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Recurrent fractures, ...	OMIM:616507
Recurrent Respiratory Papillomatosis	Failure to thrive, Respiratory distress, Tachypnea, Syncope, Dyspnea	ORPHA:60032
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Congestive heart failure, Abnormal heart morphology, Lymphedema, Cerebral...	ORPHA:137667
Hypotrichosis And Recurrent Skin Vesicles	Abnormality of the dentition, Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sp...	OMIM:613102
Cantú Syndrome	Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short hallux, Hypertrophic card...	ORPHA:1517
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Small nail, Prominent ear helix, Micrognat...	ORPHA:96149
Retinitis Pigmentosa 46	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Decreased response to growth hormone sti...	OMIM:275400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Hearing impairment, Small nail, Hypertelorism, Downslanted palpebral fissures, Larg...	OMIM:301056
Trichohepatoenteric Syndrome 1	Low-set ears, Narrow mouth, Brittle hair, Hypertelorism, Curly hair, Sparse hair, Wide nose, Depr...	OMIM:222470
Intellectual Developmental Disorder, X-Linked 30	Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Upslanted palpeb...	OMIM:300558
Gaucher Disease, Type Iii	Vascular calcification, Decreased body weight	OMIM:231000
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning	OMIM:618970
Femoral-Facial Syndrome	Low-set ears, Long philtrum, Micrognathia, Upslanted palpebral fissure, Inguinal hernia, Thin upp...	ORPHA:1988
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo...	OMIM:620300
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Short 5th metacarpal, Wormian bones, Short 4th metacarpal, Thin bony c...	OMIM:619638
Generalized Epilepsy With Febrile Seizures-Plus	Tibial torsion, Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Nail dystrophy, Hypodontia, Anonychia, Ename...	OMIM:616029
Roifman Syndrome	Epiphyseal dysplasia, Irregular capital femoral epiphysis, Prominent eyelashes, Short toe, Downtu...	ORPHA:353298
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Abnormality of the dentition, Absence of secondary sex chara...	ORPHA:2235
Retinitis Pigmentosa 62	Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re...	OMIM:614181
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Abnormal joint morphology, Micrognathia, Hyperteloris...	ORPHA:2753
Autosomal Dominant Optic Atrophy Plus Syndrome	Spastic paraplegia, Cardiomyopathy, Myopathy, Progressive external ophthalmoplegia, Limb-girdle m...	ORPHA:1215
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Microcephaly, Flexion contracture, Hypotelorism	OMIM:619091
Spondyloepiphyseal Dysplasia Congenita	Hearing impairment, Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movem...	ORPHA:94068
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Delayed cranial suture closure, Epicanthus, Hypertelorism, High pala...	OMIM:278250
Craniolenticulosutural Dysplasia	Carious teeth, Large fontanelles, Decreased skull ossification, Hypertelorism, Brittle hair, High...	ORPHA:50814
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Low-set ears, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum, Cryptorchidism, Jo...	ORPHA:1778
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasi...	OMIM:158310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Low-set ears, Abnormality of the dentition, Lambdoidal craniosynostosis, Depressed nasal bridge, ...	OMIM:615398
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia, Vein of Galen aneurysmal malformation	OMIM:618196
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Aplasia/hypoplasia of the...	ORPHA:93360
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Autosomal Recessive Omodysplasia	Low-set ears, Depressed nasal bridge, Elbow dislocation, Long philtrum, Frontal bossing, Pterygiu...	ORPHA:93329
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Wide nasal bridge, Proptosis, Hypertrichosis, Downslanted palpebral fissures, Micro...	OMIM:235255
Dravet Syndrome	Tibial torsion, Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressiv...	ORPHA:33069
Microsporidiosis	Lymphadenitis, Urethritis, Keratoconjunctivitis, Cachexia, Prostatitis, Weight loss, Corneal ulce...	ORPHA:2552
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Micrognathia, Limbal ...	ORPHA:2363
Chronic Hiccup	Weight loss, Abnormality of the diaphragm	ORPHA:396
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ...	OMIM:610968
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Osteopenia And Sparse Hair	Osteopenia, Sparse hair, Joint hypermobility	OMIM:259690
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe...	ORPHA:93672
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Anteverted nares, Hearing a...	ORPHA:2412
Gaucher Disease, Perinatal Lethal	Low-set ears, Everted upper lip vermilion, Hepatosplenomegaly, Micrognathia, Open mouth, Narrow m...	OMIM:608013
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Glucose intolerance, Optic atrophy, Diabetes mellitus	ORPHA:411590
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Excessive wrinkled skin, Epicanthus, Hypertelorism, High palate, Spa...	ORPHA:2834
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Ddost-Cdg	Hepatic steatosis, Lipodystrophy, Failure to thrive, Elevated circulating hepatic transaminase co...	ORPHA:300536
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Rhabdomyolysis, ST segm...	ORPHA:466650
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Joint hypermobility, Protrudi...	OMIM:618798
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia, Hypoglycemia, Generalized amyotrophy	OMIM:610006
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Hypothermia, Abnormal circulati...	ORPHA:90674
Myasthenic Syndrome, Congenital, 25, Presynaptic	Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ...	OMIM:601457
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Distal Duplication 6P	Low-set ears, Aplasia/Hypoplasia of the earlobes, Fine hair, Dry skin, Micrognathia, Narrow mouth...	ORPHA:1745
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis	OMIM:146720
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Depressed nasal bridge, Hypoalbuminemia, Failure to thrive, Long philtrum, Frontal ...	OMIM:608776
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Onychogryposis of toenails, Furrowed ton...	OMIM:615726
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Cupped ear, Frontal balding, Bulbous nose, Decreased body weight, Shor...	ORPHA:93945
Combined Oxidative Phosphorylation Deficiency 15	Small hand, Incoordination, Obesity, Wolff-Parkinson-White syndrome, Ventricular septal defect, S...	OMIM:614947
Paganini-Miozzo Syndrome	Low-set ears, Mandibular prognathia, Downturned corners of mouth, Downslanted palpebral fissures,...	OMIM:301025
Bacterial Toxic-Shock Syndrome	Hypotension, Shock, Respiratory distress, Myositis, Tachypnea, Myocarditis, Tachycardia, Capillar...	ORPHA:36234
Desmosterolosis	Low-set ears, Joint contracture of the hand, Hypoplastic nasal bridge, Abnormal circulating chole...	OMIM:602398
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Hearing impairment, Hypoplastic fingernail, Sh...	OMIM:614749
Waardenburg Syndrome Type 1	Hearing impairment, White hair, Premature graying of hair, Abnormal hair morphology, Hypopigmente...	ORPHA:894
Prolidase Deficiency	Depressed nasal bridge, Recurrent pneumonia, Proptosis, Eczematoid dermatitis, Skin ulcer, Failur...	OMIM:170100
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Thoracolumbar kyphoscoliosis, Relative macrocephaly, Intra...	OMIM:617396
Ichthyosis With Erythrokeratoderma	Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse palmoplanta...	OMIM:620507
Facial Paresis, Hereditary Congenital, 3	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia...	OMIM:614744
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno...	ORPHA:100083
Sepsis In Premature Infants	Hypotension, Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Temperature inst...	ORPHA:90051
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Delayed cranial suture closure, Lymphopenia, Micrognathia, Blepharophimosis, Sparse...	OMIM:620005
Fraser Syndrome 1	Low-set ears, Atresia of the external auditory canal, Small nail, Abnormal middle ear morphology,...	OMIM:219000
L-Ferritin Deficiency	Alopecia	OMIM:615604
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Ridged nail, Narrow mouth, Nail dystrophy, Nail dys...	OMIM:246560
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low-set ears, Hepatosplenomegaly, Low posterior hairline, Epicanthus, Hypertelorism, Finger joint...	OMIM:613563
Beta-Thalassemia Major	Hypoplasia of the musculature, Dilated cardiomyopathy, Growth delay, Failure to thrive in infancy...	ORPHA:231214
Illum Syndrome	Arthrogryposis multiplex congenita, Calcinosis, Bradycardia	OMIM:208155
Congenital Heart Defects, Multiple Types, 4	Tetralogy of Fallot, Coarctation of aorta	OMIM:615779
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Failure to thrive, Inguinal hernia, Pulmonary arterial hypertension, Bra...	OMIM:619272
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Sparse eyelashes, Absence of Stensen duct, Blepharophimosis, Hypertelorism, Abnorm...	OMIM:129900
Glutamine Deficiency, Congenital	Camptodactyly, Flexion contracture, Recurrent respiratory infections, Bradycardia	OMIM:610015
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Failure to thrive, Mic...	OMIM:613805
Smith-Kingsmore Syndrome	Depressed nasal bridge, Long philtrum, Downslanted palpebral fissures, Frontal bossing, Short nos...	OMIM:616638
Marshall Syndrome	Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen...	OMIM:154780
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Alopecia, Plagiocephaly, Irregular hyperpigmentation, Frontal bossing, Telecanth...	ORPHA:2612
Reynolds Syndrome	Skin rash, Infectious encephalitis, Telangiectasia of the skin, Keratoconjunctivitis sicca, Arthr...	ORPHA:779
D-Bifunctional Protein Deficiency	Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Large fontanelles...	OMIM:261515
Choreoacanthocytosis	Resting tremor, Muscle fiber atrophy, Myopathy, Loss of ambulation, Parkinsonism, Weight loss, He...	ORPHA:2388
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan...	ORPHA:79474
Pseudohypoparathyroidism Type 1C	Depressed nasal bridge, Ectopic ossification, Hyperphosphatemia, Delayed eruption of teeth, Hypoc...	ORPHA:79444
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:2050
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar...	OMIM:603830
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Small hand, Clinodactyly, Downturned corners of mouth, Abnormal heart morphol...	ORPHA:254525
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Premature osteoarthritis, In...	ORPHA:93314
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Osteoporotic tarsals, Costochondral joint sc...	OMIM:609052
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Proptosis, Melanocytic nevus, Brachycephaly, Hypertelorism, Craniosynostosis	OMIM:612247
Cranioectodermal Dysplasia 2	Low-set ears, Micrognathia, Hyperbilirubinemia, Sparse eyelashes, Epicanthus, Everted lower lip v...	OMIM:613610
Tetrasomy 9P	Small hand, Hypoplastic scapulae, Abnormal earlobe morphology, Micrognathia, Absent gallbladder, ...	ORPHA:3310
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Clinodactyly of the 2nd finger, Micrognathia, Mitral regurgitation, Osteopenia, T...	ORPHA:73223
Optic Atrophy 12	Optic atrophy, Optic disc pallor	OMIM:618977
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Low-set ears, Depressed nasal bridge, Sparse eyebrow, Long philtrum, Thick lower lip vermilion, D...	OMIM:620075
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility	OMIM:617442
Multiple Epiphyseal Dysplasia Type 4	Low-set ears, Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Abnorm...	ORPHA:93307
Axial Spondylometaphyseal Dysplasia	Platyspondyly, Osteopenia, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasi...	ORPHA:168549
Codas Syndrome	Congenital hip dislocation, Crumpled ear, Depressed nasal bridge, Delayed eruption of teeth, Abno...	ORPHA:1458
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Otosclerosis, Kyphosis, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Alopecia, Neonatal hyperbilirubinemia, Pigmentary retinopathy, Hypo...	ORPHA:3363
Tetralogy Of Fallot	Thin vermilion border, Dolichocephaly, Proptosis, Abnormal nasal morphology	ORPHA:3303
Ablepharon Macrostomia Syndrome	Atresia of the external auditory canal, Hearing impairment, Dry skin, Excessive wrinkled skin, Ab...	ORPHA:920
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia, Short nose	OMIM:618618
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Broad nasal tip, Small nail, Underdeveloped nasal alae, Upslanted palpebr...	ORPHA:250999
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy	ORPHA:1216
Scarf Syndrome	Wide nasal base, Long philtrum, Downslanted palpebral fissures, Low-set, posteriorly rotated ears...	ORPHA:3134
Monosomy 22Q13.3	Wide nasal bridge, Dental malocclusion, Hearing impairment, Dental crowding, Umbilical hernia, Bu...	ORPHA:48652
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins...	OMIM:269700
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Xp21 Deletion Syndrome	Finger clinodactyly, Decreased muscle mass, Recurrent otitis media, Adrenal insufficiency, Primar...	ORPHA:261476
Xq27.3Q28 Duplication Syndrome	Small hand, Sparse body hair, Hypogonadism, Decreased testicular size, Intrauterine growth retard...	ORPHA:261483
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Low back pain, Neoplasm of the li...	ORPHA:2126
Leopard Syndrome 1	Low-set ears, Cryptorchidism, Mitral valve prolapse, Aplasia of the ovary, Limited elbow movement...	OMIM:151100
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wo...	OMIM:259410
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Visceral Myopathy, Familial, With External Ophthalmoplegia	Gastroparesis, Spontaneous esophageal perforation	OMIM:277320
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Carious teeth, Nail dystrophy, Sparse eyelash...	OMIM:612843
Brittle Cornea Syndrome	Abnormality of the dentition, Abnormal epiphysis morphology, Conductive hearing impairment, Corne...	ORPHA:90354
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricular septal de...	OMIM:618348
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypothermia, Hypoglycemia, Poor suck	OMIM:615026
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Oliver Syndrome	Dental malocclusion, Supernumerary nipple, Camptodactyly of finger, Hyperconvex fingernails, Elbo...	ORPHA:2920
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Kyphoscoliosis, Vertebral segmentation defect, Short stature, Scoli...	ORPHA:85198
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, O...	ORPHA:91355
Kabuki Syndrome	Small hand, Congenital diaphragmatic hernia, Cryptorchidism, Sensorineural hearing impairment, Hi...	ORPHA:2322
Retinitis Pigmentosa 95	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:620102
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Micrognathia, Delayed pubic bone ossification, La...	OMIM:119600
Adams-Oliver Syndrome	Short distal phalanx of finger, Alopecia, Gastrointestinal hemorrhage, Finger syndactyly, Hypopla...	ORPHA:974
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo...	OMIM:618329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Frias Syndrome	Proptosis, Cupped ear, Downslanted palpebral fissures, Micrognathia, Ptosis, Hypertelorism, Poste...	OMIM:609640
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141184
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Epicanthus, Blepharophimosis, Hypertelor...	OMIM:244450
7Q31 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Short palpebral fissure, Plagiocephaly, Long philtrum, C...	ORPHA:251061
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Gastroesophageal reflux, Hypothermia, Ophthalmoplegia, Arrhythmia, Cardiac arrest, Growth delay	ORPHA:168593
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Hearing impairment, Abnormal toenail morphology, Sensorineural hearing impairment, Arrhythmia, La...	ORPHA:3220
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Sandhoff Disease	Spasticity, Skeletal muscle atrophy, Fasciculations, Impaired temperature sensation, Hepatospleno...	OMIM:268800
Silver-Russell Syndrome Due To 11P15 Microduplication	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute...	ORPHA:231144
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula, Esophageal atresia	OMIM:189960
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Acquired Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis	ORPHA:454
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Shallow acetabular fossae, Congestive heart failure, Intrauter...	ORPHA:1830
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Ventricular septal de...	OMIM:616730
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Depressed nasal bridge, Plagiocephaly, Downturned corners of mouth, Frontal bossing...	OMIM:618430
Baraitser-Winter Cerebrofrontofacial Syndrome	Delayed cranial suture closure, Micrognathia, Large fontanelles, Low posterior hairline, Epicanth...	ORPHA:2995
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Myhre Syndrome	Craniofacial hyperostosis, Thickened skin, Hearing impairment, Narrow mouth, Cryptorchidism, Mand...	ORPHA:2588
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Short Stature-Micrognathia Syndrome	Retrognathia, Failure to thrive, Downslanted palpebral fissures, Scaphocephaly, Micrognathia, Hyp...	OMIM:617164
Arthrogryposis, Distal, Type 12	Low-set ears, Ankle flexion contracture, Dental crowding, Palmar hyperhidrosis, Inguinal hernia, ...	OMIM:620545
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Friedreich Ataxia	Spasticity, Poor fine motor coordination, Falls, Cardiomyopathy, Inability to walk, Chorea, Limb ...	ORPHA:95
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Wide anterior fontanel, Depressed nasal bridge, Short palpebral fissure, Downturned corners of mo...	OMIM:217980
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
48,Xxyy Syndrome	Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H...	ORPHA:10
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Protruding tongue, Sensorineural hearing impairment, Absent frontal sinuses, Epican...	OMIM:301040
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin...	OMIM:251270
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa...	OMIM:123320
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetany, Hypocalcemia, Conjunct...	ORPHA:36913
Pachyonychia Congenita 1	Oral leukoplakia, Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychog...	OMIM:167200
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Wolman Disease	Steatorrhea, Cachexia, Esophageal varix	ORPHA:75233
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Lethal Infantile Mitochondrial Myopathy	Lethargy, Cardiomyopathy	ORPHA:254857
Fibrochondrogenesis	Low-set ears, Depressed nasal bridge, Plagiocephaly, Proptosis, Hypoplastic fingernail, Camptodac...	ORPHA:2021
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Tall statu...	ORPHA:785
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Small hand, Mandibular prognathia, Sandal gap, Thick lower lip vermilion, Hypogonadi...	OMIM:300354
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Proptosis, Osteolysis	ORPHA:2776
Mitochondrial Membrane Protein-Associated Neurodegeneration	Shuffling gait, Spastic paraparesis, Spasticity, Hand tremor, Rigidity, Babinski sign, Parkinsoni...	ORPHA:289560
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Jaberi-Elahi Syndrome	Low-set ears, Hand clenching, Sparse eyebrow, Broad-based gait, Fine hair, Inability to walk, Joi...	OMIM:617988
Babesiosis	Congestive heart failure, Splenomegaly, Recurrent pharyngitis, Hepatomegaly, Myocardial infarction	ORPHA:108
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hearing impairment, White hair, Premature graying of hair, Displace...	ORPHA:1775
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Leber Congenital Amaurosis 9	Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Attenuation of retinal blood ves...	OMIM:608553
Meier-Gorlin Syndrome 2	Failure to thrive, Underdeveloped nasal alae, Tracheomalacia, Breast hypoplasia, Micrognathia, Na...	OMIM:613800
Congenital Myopathy 16	Lumbar hyperlordosis, Micrognathia, Narrow mouth, Scapular winging, High palate, Scoliosis, Flexi...	OMIM:618524
Peters-Plus Syndrome	Low-set ears, Facial hypertrichosis, Square pelvis bone, Hearing impairment, Postnatal growth ret...	OMIM:261540
15Q24 Microdeletion Syndrome	Abnormality of the outer ear, Small hand, Clinodactyly, Hearing impairment, Postnatal growth reta...	ORPHA:94065
Holoprosencephaly-Craniosynostosis Syndrome	Short palpebral fissure, Plagiocephaly, Upslanted palpebral fissure, Hypotelorism, Abnormality of...	ORPHA:2163
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Three M Syndrome 3	Slender long bone, Long philtrum, Thick vermilion border, Joint hypermobility, Protruding ear, Pr...	OMIM:614205
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Akinesia, Rigidity, Orthostatic hypotension due to autonomic dysf...	ORPHA:411602
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber...	OMIM:608340
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Abnormality of the nail	ORPHA:79394
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Acan...	OMIM:620639
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Knee flexion contracture, Hip contracture, Hyperlordosis, Scapular winging, Achilles tendon contr...	OMIM:615290
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Interictal EEG abnormality, Narrow nasal bridge, Wrist hypermobility, Inguinal...	ORPHA:544503
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Mitochondrial Complex I Deficiency, Nuclear Type 21	Difficulty walking, Ragged-red muscle fibers, Myopathy, Ataxia, Growth delay	OMIM:618242
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Hypoplasia of the zygomatic ...	OMIM:618500
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased motor nerve conduction velocity, Pes cavus, Axonal degeneration/regenera...	OMIM:609260
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Tachypnea, Pulmonary arterial hypertension, Right ventricular hypertrophy	ORPHA:217563
Acquired Hypertrichosis Lanuginosa	Thickened skin, Fine hair, Abnormal eyebrow morphology, Ichthyosis, Generalized hirsutism, Glossi...	ORPHA:2221
Scarf Syndrome	Low-set ears, Lambdoidal craniosynostosis, Coronal craniosynostosis, Wide nasal bridge, Long phil...	OMIM:312830
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Blepharitis, Nail dystrophy, Sparse eyelashes, Dystrophi...	OMIM:308800
Kbg Syndrome	Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Widely-spaced maxillar...	OMIM:148050
Menkes Disease	Alopecia, Metaphyseal spurs, Intrauterine growth retardation, Intracranial hemorrhage, Hypothermi...	OMIM:309400
Meier-Gorlin Syndrome 4	Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Failure to thrive, Thick lower lip verm...	OMIM:613804
Psoriasis 14, Pustular	Polyarticular arthritis, Furrowed tongue, Nail dystrophy, Parakeratosis, Oligoarthritis, Geograph...	OMIM:614204
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia...	OMIM:612310
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
N Syndrome	Abnormality of chromosome stability, Hypospadias, Cryptorchidism	OMIM:310465
Arthrogryposis, Distal, Type 3	Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly of finger, Lumbar hyperl...	OMIM:114300
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Choanal atresia, Cleft lip, Conductive hearing impairment, Atresia of the external...	OMIM:603457
Peroxisome Biogenesis Disorder 11B	Hepatosplenomegaly, Progressive muscle weakness, Muscle weakness	OMIM:614885
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Small hand, Xerostomia, Absence of pubertal development, Typ...	ORPHA:398079
Lymphatic Malformation 4	Cellulitis, Toenail dysplasia, Hyperkeratosis, Hydrocele testis	OMIM:615907
Hypophosphatasia	Narrow chest, Failure to thrive in infancy, Large fontanelles, Abnormal rib morphology, Craniosyn...	ORPHA:436
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Brittle Cornea Syndrome 1	Congenital hip dislocation, Dentinogenesis imperfecta, Atypical scarring of skin, Hearing impairm...	OMIM:229200
Achondrogenesis	Narrow chest, Abnormal enchondral ossification, Micromelia, Umbilical hernia, Micrognathia, Ingui...	ORPHA:932
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic epi...	ORPHA:348
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Postnatal growth retardation, Feeding difficulties, Muscle weakness, Hypoglycemia	OMIM:616111
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Parakeratosis, Generalized reticulate brown pigmentation, Hyperpigmenta...	ORPHA:158681
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
C Syndrome	Low-set ears, Wide nasal bridge, Fused sternal ossification centers, Failure to thrive, Dislocate...	OMIM:211750
Coxoauricular Syndrome	Atresia of the external auditory canal, Hearing impairment, Reduced bone mineral density, Hip dis...	ORPHA:1508
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Noonan Syndrome 8	Low-set ears, Hypertrophic cardiomyopathy, Mitral regurgitation, Cryptorchidism, Ventricular sept...	OMIM:615355
Immunoneurologic Disorder, X-Linked	Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age	OMIM:300076
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Broad ribs, Congenital hypothyroidism, Cryptorchidism, Short ribs, Ventricu...	ORPHA:2519
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Increased bod...	ORPHA:890
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Wide nasal base, Short palpebral fissure, Broad nasal tip, Hearing impairment, Long...	OMIM:617763
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Generalized osteoporosis, Dental crowding, Limitation of joint mobility, Tall stature, Inguinal h...	OMIM:236200
Mccune-Albright Syndrome	Irregular menstruation, Abnormal facial skeleton morphology, Dental malocclusion, Hepatitis, Hear...	ORPHA:562
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wide nasal bridge, Proptosis, Carpal osteolysis, Wrist swelling, Downturned corners of mouth, Cam...	ORPHA:2774
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Decreased body weight, Increased serum bile acid concentrat...	OMIM:618268
Congenital Myopathy 17	Low-set ears, Dental malocclusion, Proptosis, Long philtrum, Downslanted palpebral fissures, Fail...	OMIM:618975
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Failure to thrive, Hypoglycemia, Long philtrum, Intrauterine growth retardation, C...	OMIM:618958
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Delayed cranial suture closure, Large fontanelles, Abnormal nasolac...	ORPHA:2658
X-Linked Intellectual Disability, Pai Type	Intrauterine growth retardation, Narrow mouth, Inguinal hernia, Cryptorchidism, Protruding ear, G...	ORPHA:85322
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Roberts Syndrome	Synostosis of carpal bones, Micrognathia, Patellar aplasia, Radioulnar synostosis, Progressive fl...	ORPHA:3103
Fabry Disease	Mitral regurgitation, Arrhythmia, Achalasia, Acroparesthesia, Hypertrophic cardiomyopathy, Bundle...	ORPHA:324
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Micrognathia, Hip contracture, Deeply set eye, High palate, Short nose, Downslanted...	OMIM:620369
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion, Small nail	OMIM:300210
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Hypoplasia of the odontoid process...	OMIM:607326
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Failure to thrive, Cleft upper lip, Downslanted pal...	OMIM:305400
Orofaciodigital Syndrome Ii	Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Conductive hearing impairment, Lobul...	OMIM:252100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Osteopenia, Low-set ears, Postnatal growth retardation, Intrauterine growth...	OMIM:616603
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Wide nasal bridge, Depressed nasal bridge, Delayed epiphyseal ossification, Long philtrum, Thick ...	OMIM:611717
Joubert Syndrome 23	Tachypnea, Apnea, Polydactyly	OMIM:616490
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Ophthalmoparesis, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech ap...	ORPHA:99750
Campomelic Dysplasia	Low-set ears, Depressed nasal bridge, Proptosis, Hearing impairment, Tracheomalacia, Macrocephaly...	ORPHA:140
Double Outlet Left Ventricle	Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri...	ORPHA:3427
Genitopatellar Syndrome	Low-set ears, Hearing impairment, Fine hair, Delayed eruption of teeth, Long philtrum, Prominent ...	ORPHA:85201
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Cerebral edema,...	OMIM:620646
Stickler Syndrome	Hearing impairment, Open bite, Slender build, Micrognathia, Genu valgum, Sensorineural hearing im...	ORPHA:828
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Vomiting, Gastroesophageal reflux, Failure to thrive, Abnormal gastrointestinal tract morphology,...	ORPHA:1018
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Abetalipoproteinemia	Hypopigmentation of the fundus, Pes cavus, Abnormality of retinal pigmentation, Distal lower limb...	ORPHA:14
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa...	ORPHA:2549
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Small hand, Periodontitis, Xerostomia, Central adrenal insuf...	ORPHA:739
Warburg Micro Syndrome 3	Optic atrophy, Downturned corners of mouth, Hypertrichosis, Secondary microcephaly, Micrognathia,...	OMIM:614222
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Hypospadias, Akinesia, Neonatal ...	OMIM:619334
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Iv...	OMIM:226980
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Parkinsonism, Resting tremor, Rigidity	OMIM:605909
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Carotid artery dilatatio...	ORPHA:391487
Waardenburg Syndrome, Type 3	Wide nasal bridge, Joint contracture of the hand, Hypopigmented skin patches, Premature graying o...	OMIM:148820
Nicolaides-Baraitser Syndrome	Wide nasal base, Dry hair, Unilateral narrow palpebral fissure, Short lingual frenulum, Excessive...	OMIM:601358
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Nail-Patella Syndrome	Toenail dysplasia, Decreased muscle mass, Abnormal tibia morphology, Contracture of the distal in...	ORPHA:2614
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Branchiootorenal Syndrome 1	Bifid uvula, Congenital hip dislocation, Dilatated internal auditory canal, Cupped ear, Conductiv...	OMIM:113650
Developmental And Epileptic Encephalopathy 41	Inability to walk, Flexion contracture, Delayed CNS myelination, Kyphoscoliosis	OMIM:617105
Orofaciodigital Syndrome Type 1	Hearing impairment, Open bite, Dry skin, Micrognathia, Epicanthus, Brittle hair, Hypertelorism, H...	ORPHA:2750
Ruvalcaba Syndrome	Small hand, Narrow chest, Micromelia, Limited elbow extension, Inguinal hernia, Short metacarpal,...	OMIM:180870
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Failure to thrive, Elbow dislocati...	OMIM:264180
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Loeys-Dietz Syndrome 5	Cleft soft palate, Reduced subcutaneous adipose tissue, Eosinophilic infiltration of the esophagu...	OMIM:615582
Ck Syndrome	Slender build, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Sparse scalp hair, Narrow mouth, Cryptorchidism, Sparse eyelashes, Arachno...	ORPHA:75496
Kerion Celsi	Alopecia	ORPHA:499
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Brain Malformations With Or Without Urinary Tract Defects	Low-set ears, Failure to thrive, Macrocephaly, Anteverted nares, Narrow mouth, Upslanted palpebra...	OMIM:613735
Leber Congenital Amaurosis	Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract	ORPHA:65
Kleefstra Syndrome	Limitation of joint mobility, Hearing impairment, Supernumerary nipple, Hernia, Everted lower lip...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Hypoplasia of the maxilla, Dental crowding, Frontal bossing, Narrow nose, Narrow na...	OMIM:309520
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda...	ORPHA:1106
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormality of the outer ear, Hearing impairment, Widely spaced teeth, Recurrent otitis media, Mi...	ORPHA:2728
Cerebrooculofacioskeletal Syndrome 4	Abnormality of the vertebral column, Camptodactyly of finger, Failure to thrive in infancy, Elbow...	OMIM:610758
Six2-Related Frontonasal Dysplasia	Depressed nasal bridge, Broad nasal tip, Absent/hypoplastic paranasal sinuses, Frontal bossing, P...	ORPHA:488437
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Long eyelashes, Pulmonary arterial hypertension, Synophrys	OMIM:619064
Linear Verrucous Nevus Syndrome	Genu recurvatum, Hypophosphatemia, Macrocephaly, Reduced bone mineral density, Sparse scalp hair	ORPHA:2611
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow,...	OMIM:614230
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ...	OMIM:113000
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Arachnodac...	OMIM:614437
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Spasticity, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hypergl...	OMIM:220111
Acrocallosal Syndrome	Low-set ears, Everted upper lip vermilion, Hearing impairment, Narrow mouth, Open mouth, Protrudi...	OMIM:200990
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec...	OMIM:617093
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Downturned corners of mouth, Hearing impairment, Absent earlobe, Overla...	OMIM:619557
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Retrognathia, ...	OMIM:210720
Dystonia 31	Difficulty walking, Dysphagia, Abnormal posturing	OMIM:619565
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Gastroesophageal reflux, Growth delay, Fever, Corneal scarring, Intrauterine grow...	OMIM:614653
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Wide nasal bridge, Microretrognathia, Plagiocephaly, Hypoplasia of the zygomatic bo...	OMIM:613603
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Hypodontia, Sparse hair	OMIM:246500
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Alkaptonuria	Aortic valve calcification, Aortic valve stenosis, Black pigment gallstones, Mitral regurgitation...	ORPHA:56
Tetrasomy 12P	Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe...	ORPHA:884
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Cholera	Hypovolemic shock, Hypotension, Hypoglycemia, Tachypnea, Lethargy, Hyperventilation, Tachycardia,...	ORPHA:173
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Proptosis, Small nail, Low-set, posteriorly rotated ears, Abnormal fingernail ...	ORPHA:1908
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Weaver-Williams Syndrome	Protruding ear, Narrow mouth, Cleft palate	ORPHA:3448
Night Blindness, Congenital Stationary, Type 1G	Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness	OMIM:616389
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea, Failure to thrive, Decreased body weight	OMIM:620085
Atrophoderma Vermiculata	Hyperkeratotic papule, Atrophic scars, Follicular hyperkeratosis	ORPHA:79100
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Long philtrum, Radial club han...	ORPHA:2878
Chromosome 13Q14 Deletion Syndrome	Low-set ears, Hearing impairment, Supernumerary nipple, Umbilical hernia, Bulbous nose, Micrognat...	OMIM:613884
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Sparse body hair, Ob...	ORPHA:2234
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Low-set ears, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of the calca...	ORPHA:163966
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Abnormality of the dentition, Osteopenia, Hearing impairment, Hypogonadism, Absence of pubertal d...	OMIM:615267
Congenital Disorder Of Deglycosylation 1	Small hand, Corneal opacity, Decreased sensory nerve conduction velocity, Short foot, Corneal ulc...	OMIM:615273
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Hypoglycemia, Short humerus, Short ribs, Talipes equinovarus...	OMIM:607143
Microphthalmia With Limb Anomalies	Low-set ears, Flared nostrils, Blepharophimosis, High palate, Hip dislocation, Short nose, Short ...	OMIM:206920
20Q13.33 Microdeletion Syndrome	Highly arched eyebrow, Small for gestational age, Proptosis, Prominent crus of helix, Low-set, po...	ORPHA:261311
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Increased overbite, Ara...	ORPHA:319171
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis	OMIM:101900
19P13.13 Microdeletion Syndrome	Low-set ears, Narrow mouth, Deeply set eye, Epicanthus, Hypertelorism, High palate, Short nose, M...	ORPHA:357001
Hutchinson-Gilford Progeria Syndrome	Alopecia, Congestive heart failure, Osteolysis, Micrognathia, Absence of subcutaneous fat, Malar ...	OMIM:176670
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Highly arched eyebrow, Coronal craniosynostosis, Depressed nasal bridge, Natal...	OMIM:145420
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Tarp Syndrome	Low-set ears, Optic atrophy, Wide nasal bridge, Short palpebral fissure, Prominent antihelix, Fai...	OMIM:311900
Hypermobile Ehlers-Danlos Syndrome	Menometrorrhagia, Keratoconus, Atypical scarring of skin, Epistaxis, Aortic root aneurysm, Arteri...	ORPHA:285
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade...	ORPHA:97289
Peho-Like Syndrome	Optic atrophy, Retrognathia, Open mouth, Epicanthus, Progressive microcephaly, Hypsarrhythmia, Sh...	OMIM:617507
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Glucose intolerance, Hyperlipidemia, Do...	ORPHA:189427
Dna2-Related Mitochondrial Dna Deletion Syndrome	Slender build, Decreased mitochondrial number, Multiple joint contractures, Myopathy, Limb-girdle...	ORPHA:352470
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hearing impairment, Secondary microcephaly, Micrognathia, Limited elbow movement, High palate, Pl...	OMIM:610759
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect	OMIM:616816
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni...	ORPHA:1041
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Coarctation of aorta, Right aortic arch	OMIM:140850
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic atrophy, Optic disc pallor	OMIM:182830
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypothermia, Rhabdomyolysis, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia,...	ORPHA:94093
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Optic Atrophy 11	Increased variability in muscle fiber diameter, Stereotypical body rocking, Facial diplegia, Sple...	OMIM:617302
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity	OMIM:613643
Mucopolysaccharidosis, Type Iiid	Low-set ears, Hearing impairment, Recurrent otitis media, Deeply set eye, Hypertelorism, Inguinal...	OMIM:252940
Dowling-Degos Disease	Hyperkeratotic papule, Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology,...	ORPHA:79145
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic he...	ORPHA:171719
Al-Raqad Syndrome	Low-set ears, Hypopigmentation of the skin, Narrow mouth, Deeply set eye, Thin upper lip vermilio...	OMIM:616459
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Cleft pal...	OMIM:141400
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myopathy	OMIM:158800
Ichthyosis, Congenital, Autosomal Recessive 3	Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Anhidrosis, Eclabion, Hyperkeratosis, Congeni...	OMIM:606545
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Cupped ear, Cleft upper lip, Microcephaly, Ptosis, Overfolded helix, High palate, C...	OMIM:609654
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Camurati-Engelmann Disease	Carious teeth, Proptosis, Hearing impairment, Cranial nerve compression, Slender build, Sclerosis...	OMIM:131300
Acute Interstitial Pneumonia	Pericardial effusion, Tachypnea, Dyspnea, Hypertension	ORPHA:79126
Sclerosteosis	Optic atrophy, Finger syndactyly, Curved distal phalanges of the hand, 2-3 finger syndactyly, Dia...	ORPHA:3152
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Long philtrum, Downslanted palpebral fissures, Long eyelashe...	OMIM:617523
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Hypopigmented streaks, Hyperkeratosis, Abnormality of the nail	ORPHA:254478
Cone-Rod Dystrophy 17	Optic disc pallor, Cone/cone-rod dystrophy	OMIM:615163
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Decreased fertility, Mitral valve prolapse, Abnormal morphology of ulna, Low poster...	ORPHA:2233
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Spastic tetraparesis, Ragged-red muscle fibers, Ophthalmoplegia, Hepatomegaly,...	OMIM:614924
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Ichthyosis Prematurity Syndrome	Follicular hyperkeratosis, Generalized ichthyosis, Hyperpigmentation of the skin, Alopecia of scalp	OMIM:608649
Rothmund-Thomson Syndrome, Type 3	Depressed nasal bridge, Sparse eyebrow, Microretrognathia, Proptosis, Osteopenia, Spotty hyperpig...	OMIM:615789
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Epiphyseal stippling of toe phalanges, Postnatal growth retardati...	ORPHA:79345
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impai...	ORPHA:2554
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Decreased skull ossificatio...	ORPHA:93324
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu...	ORPHA:90673
Ane Syndrome	Decreased response to growth hormone stimulation test, Multiple joint contractures, Kyphoscoliosi...	ORPHA:157954
Dermatitis, Atopic	Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti...	OMIM:603165
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Large earlobe, Short nose, Tented upper lip vermilion, Upslan...	OMIM:615716
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Orthostatic syncope, Diarrhea, Vomiting, Hypoglycemia, Abnormal EKG, Elevated...	ORPHA:230
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte...	OMIM:619079
Combined Malonic And Methylmalonic Acidemia	Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Dicarboxylic aciduria	ORPHA:289504
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Mitral regurgitation, ...	ORPHA:904
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Hydro...	OMIM:150230
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Conical tooth, Hearing impairment, Underdeveloped nasal alae, Widely spaced te...	ORPHA:90024
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly	OMIM:258865
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Decreased bod...	ORPHA:209964
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Craniosynostosis 4	Lambdoidal craniosynostosis, Coronal craniosynostosis, Depressed nasal bridge, Proptosis, Retrogn...	OMIM:600775
Congenital Syphilis	Hearing impairment, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly,...	ORPHA:499009
Microhydranencephaly	Proptosis, Prominent nasal bridge, Multiple joint contractures, Microcephaly, Macrotia	OMIM:605013
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Abnormality of the sphenoid sinus, Large cafe-au-lait macules w...	ORPHA:249
Fanconi Anemia	Hearing impairment, Hypopigmented skin patches, Aplasia/Hypoplasia of the uvula, Micrognathia, Ep...	ORPHA:84
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Micrognathia, Malar flattening, Short ri...	OMIM:215045
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, ...	ORPHA:2180
Mosaic Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po...	ORPHA:99228
Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po...	ORPHA:99226
Turner Syndrome	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Po...	ORPHA:99413
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Abnormality ...	ORPHA:363454
Perrault Syndrome 4	Decreased serum estradiol, Progressive sensorineural hearing impairment, Gait ataxia, Premature o...	OMIM:615300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Depressed nasal bridge, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pne...	ORPHA:314655
Shigellosis	Conjunctivitis, Corneal ulceration, Hypoglycemia	ORPHA:810
Acute Lung Injury	Diffuse alveolar hemorrhage, Shock, Respiratory distress, Tachypnea, Dyspnea	ORPHA:178320
Hsd10 Disease, Infantile Type	Poor coordination, Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Loss of ambulation, H...	ORPHA:391428
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Ventricular septal...	OMIM:309500
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Rickets, Frontal bossing, Sacroiliac joint synovitis, G...	ORPHA:89936
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Low-set ears, Pneumonia, Recurrent upper respiratory tract infections, Depressed nasal bridge, Re...	OMIM:614069
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Nocturnal hypoventilation, Intrauterine growth retardation, Diaphrag...	OMIM:620326
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low-set ears, Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Protruding ear, Ev...	OMIM:616819
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absent eyelashes, Absent eyebrow...	OMIM:137940
Optic Atrophy 15	Optic atrophy, Optic disc pallor	OMIM:620583
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipation	OMIM:142623
Cerebral Cavernous Malformations 2	Stroke, Cerebral cavernous malformation, Telangiectasia, Cerebral hemorrhage	OMIM:603284
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet...	OMIM:300623
Rauch-Steindl Syndrome	Highly arched eyebrow, Long philtrum, Prominent crus of helix, Postnatal growth retardation, Intr...	OMIM:619695
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:223800
Mietens Syndrome	Cataract, Microcornea, Avascular necrosis of the capital femoral epiphysis, Talipes, Coxa valga, ...	ORPHA:2557
13Q12.3 Microdeletion Syndrome	Failure to thrive, Obesity, Intrauterine growth retardation, Congenital diaphragmatic hernia, Cry...	ORPHA:412035
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Abnormal hair morphology, Deeply set eye, Chronic otitis media, Osteopenia, Eczematoi...	ORPHA:2314
Lambert-Eaton Myasthenic Syndrome	Abnormality of the orbital region, Orthostatic hypotension due to autonomic dysfunction, Keratoco...	ORPHA:43393
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Right aortic arch, Chronic rhinitis	OMIM:617577
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy, Genu valgum, Patellar subluxation, Astigmatism	OMIM:248000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Hypoplasia of the odontoid process, Skeletal muscle atrophy, Kyphoscoliosis, Short...	OMIM:300232
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Lateral clavicle ...	OMIM:615633
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Inability to walk, Kyphoscoliosis, Joint contracture, Choreoathetosis	OMIM:617664
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy	OMIM:615181
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, We...	ORPHA:449400
Alexander Disease	Self-injurious behavior, Hypotension, Failure to thrive, Nausea and vomiting, Hypothermia, Hypert...	ORPHA:58
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Facial hypertrichosis, Aplasia of the distal phalanx of the 5th t...	OMIM:618658
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Cupped ear, Nail dystrophy, Protruding ear, Atrial septal defect, Brittle hair, Short s...	ORPHA:93947
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteomalacia, Micrognathia, Cryptorchidism, Bilateral single transverse palmar crea...	ORPHA:2636
Familial Chylomicronemia Syndrome	Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl...	ORPHA:444490
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Respiratory distress, Lethargy, Hepatome...	OMIM:251110
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, ...	OMIM:146500
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Increased circulating prolacti...	OMIM:617675
Cockayne Syndrome Type 2	Male hypogonadism, Cryptorchidism, Scarring, Enamel hypoplasia, Developmental cataract, Conjuncti...	ORPHA:90322
Microphthalmia, Syndromic 2	Laterally curved eyebrow, Sensorineural hearing impairment, Decreased body weight, Radioulnar syn...	OMIM:300166
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,...	ORPHA:2879
Congenital Disorder Of Glycosylation, Type Iif	Hypotelorism, Deeply set eye, Microcephaly, Thrombocytopenia, Neutropenia, Macrothrombocytopenia,...	OMIM:603585
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Aredyld	Generalized hypotrichosis, Abnormality of the ear, Mandibular prognathia	OMIM:207780
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Trisomy 8P	Bifid uvula, Recurrent upper respiratory tract infections, Depressed nasal bridge, Conductive hea...	ORPHA:264450
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Abnormal cardiac septum morphology	ORPHA:99811
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordosis...	OMIM:271650
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery atresia, Congestive heart failure,...	ORPHA:99050
Diaphanospondylodysostosis	Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Tracheomalacia, Hypoplastic fingerna...	OMIM:608022
Noonan Syndrome 1	Low-set ears, Hearing impairment, Dry skin, Micrognathia, Sensorineural hearing impairment, Low p...	OMIM:163950
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal...	ORPHA:2847
Osteoporosis	Osteoporosis	OMIM:166710
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema	ORPHA:1054
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Hearing impairment, Failure to thrive, Downslanted palpebral fissures, Elevated 8...	OMIM:302960
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Oligohydramnios, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Cerebral e...	OMIM:617713
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinson...	OMIM:618877
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Rhizomelia, Limitation of joint mobility, Abnorm...	ORPHA:3098
3C Syndrome	Low-set ears, High, narrow palate, Optic atrophy, Wide nasal bridge, Depressed nasal bridge, Hypo...	ORPHA:7
Retinitis Pigmentosa 89	Esophageal varix	OMIM:618955
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter, Athetosis, Dysphagia, Impaired oral bolus formati...	OMIM:617235
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Bicu...	OMIM:265380
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Irregular menstruation, Rhizomelia, Disproportionate short stature, Gastroe...	OMIM:616482
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	External ophthalmoplegia, Failure to thrive, Cardiomyopathy, Myopathy, Weakness of facial muscula...	OMIM:201470
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Tremor, Rigidity, Parkinsonism, Bradykinesia	ORPHA:329284
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail...	ORPHA:1882
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Barrel...	OMIM:184100
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar...	ORPHA:90695
Calvarial Doughnut Lesions With Bone Fragility	Severe short stature, Osteopenia, Carious teeth, Femoral bowing, Mixed hearing impairment, Osteop...	OMIM:126550
Cornelia De Lange Syndrome 6	Low-set ears, Frontal upsweep of hair, Ventricular septal defect, Arachnodactyly, Macrotia, Spars...	OMIM:620568
Brain-Lung-Thyroid Syndrome	Hypospadias, Falls, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy...	ORPHA:209905
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Os...	OMIM:614838
Mucolipidosis Ii Alpha/Beta	Limitation of joint mobility, Recurrent otitis media, Progressive alveolar ridge hypertropy, Micr...	OMIM:252500
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor, Pancreatitis, Kyphoscoliosis	OMIM:618230
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus...	ORPHA:340
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Low-set ears, Wide nasal bridge, Carious teeth, Cupped ear, Dental malocclusion, Microretrognathi...	OMIM:615560
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Kyphosis, Hirsutism, Short foot, Scoliosis, Hip dislocation	OMIM:300434
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia, Osteopor...	ORPHA:100024
Rhyns Syndrome	Osteopenia, Conductive hearing impairment, Radial bowing, Decreased response to growth hormone st...	OMIM:602152
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Constrictive pericar...	ORPHA:67
Hellp Syndrome	Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ...	ORPHA:244242
Retinitis Pigmentosa 26	Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:608380
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ...	ORPHA:98754
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia...	OMIM:609560
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
9P13 Microdeletion Syndrome	Low-set ears, Highly arched eyebrow, Wide nasal bridge, Microretrognathia, Umbilical hernia, Recu...	ORPHA:324313
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Ataxia	OMIM:125250
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Abnormality of primary teeth, Ante...	ORPHA:438216
Incontinentia Pigmenti	Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast aplasia, Brea...	OMIM:308300
Leprechaunism	Low-set ears, Thickened skin, Facial hypertrichosis, Clitoral hypertrophy, Postnatal growth retar...	ORPHA:508
Spinocerebellar Ataxia 10	Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Distal sensory impairme...	OMIM:603516
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Upslanted pa...	OMIM:613443
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos...	OMIM:310600
Dysosteosclerosis	Platyspondyly, Osteopenia, Narrow chest, Natal tooth, Absent paranasal sinuses, Delayed eruption ...	OMIM:224300
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:615524
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Joint contracture of the hand, Atypical scarring of skin, Arthrogryposis multiplex co...	OMIM:601701
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiostea...	OMIM:211900
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,...	ORPHA:91348
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abnormality of the...	OMIM:611376
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Long eyelashes, Absent scrotum, Hirsutism, Low anterior hairline, Keratoconjunctivitis sicca, Bup...	OMIM:618479
Usher Syndrome, Type Iiib	Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy	OMIM:614504
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Bifid uvula, Short palpebral fissure, Cupped ear, Hearing impairment, Macrocephaly,...	OMIM:617159
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Splenomegaly, Congestive heart failure	ORPHA:90037
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Noonan Syndrome 14	Low-set ears, High, narrow palate, Sparse eyebrow, Long philtrum, Downslanted palpebral fissures,...	OMIM:619745
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:614100
Joubert Syndrome 30	Tachypnea, Apnea, Postaxial hand polydactyly	OMIM:617622
Zttk Syndrome	Low-set ears, Narrow mouth, Deeply set eye, Epicanthus, Curly hair, High palate, Short nose, Spar...	OMIM:617140
Perry Syndrome	Short stepped shuffling gait, Central hypoventilation, Akinesia, Hypoventilation, Rigidity, Tremo...	OMIM:168605
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Joint hypermobility, Pili torti, Aplasia/Hypoplasia of the eyebrow, A...	ORPHA:2891
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Failure to thrive, Large earlobe, Secondary microcephaly, Micrognathia, Epicanthus...	OMIM:615851
Orofacial Cleft 15	Low-set ears, Sparse eyebrow, High anterior hairline, Palate fistula, Inguinal hernia, Cryptorchi...	OMIM:616788
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb...	OMIM:619461
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, Genu valgum, Micrognath...	ORPHA:166016
Neuroferritinopathy	Blepharospasm, Involuntary movements, Resting tremor, Difficulty walking, Chorea, Babinski sign, ...	ORPHA:157846
Gand Syndrome	Wide nasal bridge, Broad nasal tip, Deeply set eye, Thin upper lip vermilion, Blepharophimosis, N...	OMIM:615074
Eosinophilic Gastroenteritis	Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Abnormality of the gastrointestinal...	ORPHA:2070
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Low-set ears, Depressed nasal ridge, Wide nasal bridge, Proptosis, Long philtrum, Delayed cranial...	ORPHA:2211
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Intestinal obstruction, Peritonitis, W...	ORPHA:131
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Hematuria, Corneal erosion, Abnormal penis morphology, Atyp...	ORPHA:95455
Weaver Syndrome	Joint contracture of the hand, Epicanthus, Thin nail, Hypertelorism, Sparse hair, Macrotia, Flat ...	OMIM:277590
Dyskeratosis Congenita, Autosomal Dominant 2	Abnormality of the dentition, Dilated cardiomyopathy, Oral leukoplakia, Premature graying of hair...	OMIM:613989
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Alopecia, Proptosis, Abnormal hair morphology, Generalized lipodyst...	ORPHA:90154
Mevalonic Aciduria	Progressive cerebellar ataxia, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in ...	OMIM:610377
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Wide nasal bridge, Aplasia/Hypoplasia of the external ear, EEG with burst suppressi...	ORPHA:168486
Saul-Wilson Syndrome	Proptosis, Hearing impairment, Narrow nasal bridge, Micrognathia, Madelung deformity, Sensorineur...	OMIM:618150
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Bradykinesia, Rigidity	ORPHA:306686
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Bell-shaped thorax, Short neck, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenit...	ORPHA:178148
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ...	ORPHA:177901
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic b...	OMIM:184250
Mirage Syndrome	Hypoglycemia, Radial club hand, Lymphopenia, Adrenal insufficiency, Decreased testicular size, Le...	OMIM:617053
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Optic atrophy, Proptosis, Secondary microcephaly, Anteverted nares, Open mouth...	OMIM:618437
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Chime Syndrome	Abnormality of the outer ear, Erythema, Acute leukemia, Hearing impairment, Epicanthus, Hypertelo...	ORPHA:3474
Acrofacial Dysostosis, Palagonia Type	Low-set ears, High, narrow palate, Sparse lateral eyebrow, Unilateral cleft lip, Thin eyebrow, Bu...	ORPHA:1787
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Low-set ears, Gingival bleeding, Micrognathia, Epicanthus, Everted lower lip vermilion, Osteopeni...	OMIM:225410
Cutis Laxa, Autosomal Recessive, Type Iid	Low-set ears, Hypoplastic right heart, Retrognathia, Congestive heart failure, Hypertrophic cardi...	OMIM:617403
Tricuspid Atresia	Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu...	ORPHA:1209
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Alagille Syndrome	Short distal phalanx of finger, Intrauterine growth retardation, Micrognathia, Cryptorchidism, Ve...	ORPHA:52
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Broad-based gait, Short 5th toe, Hearing impairment, Cleft soft palate, Cr...	ORPHA:268261
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Depressed nasal bridge, Proptosis, Long philtrum, Prominent occiput, Omphalocele, D...	OMIM:617895
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Lymphopenia, Inguinal hernia, Aganglionic megacolon, Biparietal narrowing,...	ORPHA:935
Pelviscapular Dysplasia	Low-set ears, Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of ...	ORPHA:93333
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Maternal Uniparental Disomy Of Chromosome 1	Hearing impairment, Downturned corners of mouth, Failure to thrive, Pancytopenia, Epiphyseal stip...	ORPHA:251009
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Abnormality of the hairline, Prominent nose, Abnormal cortical bone morphology...	OMIM:614886
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Short stature, Pulmonary arterial hypertension, Hip dislocation	OMIM:619059
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Hypoplasia of the musculature, Tall stature, Narrow mouth, Arachnodactyly, Low posteri...	ORPHA:2463
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Premature graying of hair, Recurrent otitis media, Microcytic anemia, Flexion contractu...	OMIM:256040
Mitochondrial Myopathy, Infantile, Transient	Failure to thrive, Increased muscle lipid content, Hypertrophied muscle fibers, Ragged-red muscle...	OMIM:500009
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Skeletal muscle atrophy, Somatic sensory dysfunction, Pulmonary embolism,...	ORPHA:3260
Tyshchenko Syndrome	Low-set ears, High, narrow palate, Narrow palate, Proptosis, Supernumerary nipple, Low anterior h...	OMIM:615102
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Atresia of the external auditory canal, Sparse body hair, Supernumerary nipple, Sparse eyelashes,...	OMIM:106260
Chromosome 14Q11-Q22 Deletion Syndrome	Low-set ears, Micrognathia, Narrow mouth, Deeply set eye, Epicanthus, Blepharophimosis, Hypertelo...	OMIM:613457
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Dystrophic toenail, Eczematoid dermatitis, Camptodactyly of finger, N...	ORPHA:2907
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Fasciculations, Difficulty walking, Neck muscle weakness, Increased muscle lipid ...	OMIM:610717
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Micrognathia, Blepharophimosis, Hypertelorism, High palate, Hypoplasia of the maxil...	OMIM:170390
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormality of the nose, Sparse body hair, Abnormal dental morphology, Melanocytic nevus, Abnorma...	ORPHA:1818
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ...	ORPHA:98793
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias, Downslanted palpebral fissures, Astigmatism, Upslanted palpebral fissure, Low anteri...	OMIM:615761
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ...	OMIM:602196
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Furrowed tongue, Joint hypermobility, Pili torti, Hyperpigment...	OMIM:301845
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Keloids, Pyelonephritis, Cryptorchidism, Oligozoospermia, Varicose veins	OMIM:314300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Undetectable visual evoked potentials, Retrognathia, Frontal bossing, Thick nasal a...	ORPHA:163961
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Inability to walk, Athetosis, Ragged-red muscle fibers, Ataxia	OMIM:615159
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Premature graying of hair, Postnatal growth retardation, Genu valgum, Bowing...	OMIM:612199
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Failure to thrive, Gait ataxia, Cachexia, Weight loss	OMIM:612075
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca...	ORPHA:280333
3Mc Syndrome 2	Hearing impairment, Prominence of the premaxilla, Limited elbow movement, Radioulnar synostosis, ...	OMIM:265050
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Kyphoscoliosis, Intervertebral space narrowing...	ORPHA:263463
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Renpenning Syndrome	High, narrow palate, Severe short stature, Mandibular prognathia, Alopecia, Abnormal hairshaft mo...	ORPHA:3242
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Pes cavus, Areflexia of lower limbs, Rod-cone dystrophy, Segmental peripheral demy...	OMIM:311070
Gm1 Gangliosidosis	Cherry red spot of the macula, Hepatosplenomegaly, Narrow mouth, Generalized hirsutism, Weight lo...	ORPHA:354
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
48,Xxxy Syndrome	Small scrotum, Carious teeth, Elbow dislocation, Open bite, Tall stature, Type II diabetes mellit...	ORPHA:96263
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Large for gesta...	ORPHA:263455
Johanson-Blizzard Syndrome	Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Failure to thrive, Underdevelo...	ORPHA:2315
Retinitis Pigmentosa 56	Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ...	OMIM:613581
Okamoto Syndrome	Low-set ears, Abnormal helix morphology, Facial hypertrichosis, Exaggerated median tongue furrow,...	ORPHA:2729
Hall-Riggs Syndrome	Wide nasal bridge, Coarse hair, Delayed eruption of teeth, Downturned corners of mouth, Failure t...	ORPHA:2107
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Natal tooth, Alopecia totalis, Anonychia, Acantholysis, Absent fingernail	OMIM:609638
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Primar...	OMIM:614880
Episodic Ataxia Type 1	Tip-toe gait, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, Choreoathetosis	ORPHA:37612
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Optic disc coloboma, Chorioretinal coloboma, Macular atrophy, Flat cornea, Shallow a...	OMIM:602499
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Loose anagen hair, Epicanthus, Hypertelorism, Curly hair, High palate, Sparse hair,...	OMIM:607721
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thickened skin, Mitral regurgitation, Hernia, Atrial septal defect, Tachycardia, Hypertrophic car...	ORPHA:505248
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Plagiocephaly, Hearing impairment, Failure to thrive, Dela...	OMIM:620099
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Immunodeficiency 46	Conjunctivitis, Failure to thrive, Chronic oral candidiasis	OMIM:616740
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Alopecia, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctiviti...	ORPHA:227990
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ...	ORPHA:177904
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Cryptorchidism, Ventricular septal defect, Arachnodactyly,...	ORPHA:464306
Desbuquois Dysplasia 2	Bifid uvula, Depressed nasal bridge, Dental crowding, Proptosis, Long philtrum, Knee dislocation,...	OMIM:615777
Mesomelic Dysplasia, Kantaputra Type	Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta...	ORPHA:1836
Benign Schwannoma	Abnormal cranial nerve morphology, Intestinal polyposis, Vestibular schwannoma, Abnormality of th...	ORPHA:252164
Lamellar Ichthyosis	Abnormality of the dentition, Ichthyosis, Everted lower lip vermilion, Aplasia/Hypoplasia of the ...	ORPHA:313
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Huntington Disease-Like 2	Weight loss, Gait disturbance	ORPHA:98934
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Ascites, Oligohydramnios, Ventricular septal defect, Nonimm...	OMIM:617021
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the dentition, Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality...	OMIM:601553
Fgfr2-Related Bent Bone Dysplasia	Low-set ears, Abnormality of the outer ear, Coronal craniosynostosis, Incomplete ossification of ...	ORPHA:313855
Kabuki Syndrome 1	Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent otitis media, Postnatal growth r...	OMIM:147920
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Ichthyosis, Cryptorchidism, Testicular seminoma, Hypohidrosis, Hyper...	ORPHA:281090
Rett Syndrome	Spasticity, Skeletal muscle atrophy, Abnormal T-wave, Apnea, Gait ataxia, Intermittent hyperventi...	OMIM:312750
Maternal Phenylketonuria	Hypoplastic helices, Wide nasal bridge, Long philtrum, Bilateral ptosis, Anteverted nares, Microg...	ORPHA:2209
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Hypogonadism, Panh...	OMIM:262600
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Underdeveloped nasal alae, Downslanted palpebr...	ORPHA:436003
Hereditary Sensory And Autonomic Neuropathy Type 1	Distal amyotrophy, Gastroesophageal reflux, Hearing impairment, Inability to walk, Osteomyelitis,...	ORPHA:36386
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy	ORPHA:84142
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Joint Laxity, Short Stature, And Myopia	Cervical kyphosis, Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Short stature	OMIM:617662
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Long philtrum, Hypertelorism, Short nose, Wide nose	OMIM:125700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Generalized hyperpigmentation, Narrow mouth, Abnormal or...	ORPHA:1355
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Snijders Blok-Fisher Syndrome	Cupped ear, Cryptorchidism, Protruding ear, Facial hypotonia, Choreoathetosis	OMIM:618604
46,Xx Gonadal Dysgenesis	Osteopenia, Sparse pubic hair, Decreased serum estradiol, Hearing impairment, Aplasia/hypoplasia ...	ORPHA:243
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Sparse eyebrow, Mandibular prognathia, Proptosis, Downslanted palpebral fissures, F...	OMIM:617011
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Hearing impairment, Long philtrum, Downslanted...	OMIM:300749
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Epicanthus, Blepharophimosis, Uplifted e...	OMIM:616734
Myotonic Dystrophy 1	Atrial flutter, Respiratory distress, Facial diplegia, First degree atrioventricular block, Atria...	OMIM:160900
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Schizophrenia 1	Short stature, Protruding ear, Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Wide anterior fontanel, Depressed nasal bridge, Cleft lip, Natal tooth, Large poste...	OMIM:617925
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Ketotic hypoglycemia, Short...	ORPHA:2089
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis	OMIM:233300
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating cortisol level, Hypoglycemia, Increased circulating...	OMIM:615962
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy	OMIM:204200
Mohr-Tranebjaerg Syndrome	Intrinsic hand muscle atrophy, Spasticity, Abnormal posturing, Tremor	OMIM:304700
1p36 microdeletion syndrome	Deeply set eye, Delayed cranial suture closure	DECIPHER:18
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Low-set ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Retrognathia, Fine hair, Too...	ORPHA:2637
Hec Syndrome	Polyhydramnios, Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Galactose Epimerase Deficiency	Weight loss, Growth delay	ORPHA:79238
Diabetes And Deafness, Maternally Inherited	External ophthalmoplegia, Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Unsteady gait	OMIM:520000
Autosomal Dominant Hypocalcemia	Optic atrophy, Alopecia, Irregular hyperpigmentation, Hyperphosphatemia, Eczematoid dermatitis, H...	ORPHA:428
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sensorineural hea...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sensorineural hea...	ORPHA:353277
Aromatase Deficiency	Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Hyperlipidemia, Eunuchoid h...	ORPHA:91
Intellectual Developmental Disorder, X-Linked 101	Optic atrophy, Clinodactyly	OMIM:300928
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Premature graying of hair, Supernumerary nipple, Micrognathia, ...	OMIM:113620
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Proptosis, Hearing impairment, Epiphyseal stippling, Increased body weight, Small for gestational...	OMIM:274300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Inflammation of the large intestine, Conical tooth, Chronic mucocutaneous candidiasis...	ORPHA:98813
Frontorhiny	Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorly rotated ears, Pericallos...	ORPHA:391474
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Short palm	ORPHA:168555
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Elbow flexion contracture, Inability to walk, Obesity, Genu valgum, Hypothermia, Hip contr...	OMIM:618493
Buratti-Harel Syndrome	Low-set ears, Bifid uvula, Recurrent pneumonia, Small nail, Velopharyngeal insufficiency, Sparse ...	OMIM:619314
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Congenital Disorder Of Glycosylation, Type 2V	Low-set ears, Gastroesophageal reflux, Retrognathia, Thick vermilion border, Low posterior hairli...	OMIM:619493
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Hearing impairment, Mitral regurgitation, Myopathy, Cryptorchidism, Or...	OMIM:612541
Scholte Syndrome	Decreased testicular size, Reduced subcutaneous adipose tissue, Kyphoscoliosis	OMIM:300977
Leprosy	Corneal perforation, Enlarged peripheral nerve, Autoamputation of digits, Abnormal autonomic nerv...	ORPHA:548
Cerebrofaciothoracic Dysplasia	Coarse hair, Cleft upper lip, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, ...	ORPHA:1394
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Increa...	OMIM:231100
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
49,Xxxxy Syndrome	Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi...	ORPHA:96264
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de...	ORPHA:1120
Microphthalmia, Syndromic 13	Short stature, Kyphoscoliosis	OMIM:300915
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Dental malocclusion, Natal tooth, Nail dystrophy, Nail dysplasia, T...	OMIM:601957
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Sparse scalp hair, Parieta...	OMIM:603116
Irvan Syndrome	Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ...	ORPHA:209943
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Leukonychia, Angular cheilitis, Onycholysis, Follicular hyperkeratosis, Punctat...	OMIM:616295
Endocrine-Cerebroosteodysplasia	Low-set ears, Wide nasal bridge, Ankyloblepharon, Natal tooth, Thick upper lip vermilion, Depress...	OMIM:612651
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Telecan...	ORPHA:782
Autosomal Agammaglobulinemia	Cellulitis, Bronchiectasis, Failure to thrive, Hepatitis, Osteomyelitis, Skin rash, Epicanthus, A...	ORPHA:33110
Cockayne Syndrome Type 1	Hearing impairment, Anodontia, Delayed eruption of primary teeth, Deeply set eye, Macrotia, Male ...	ORPHA:90321
Down Syndrome	Narrow mouth, Open mouth, Protruding tongue, Acute megakaryocytic leukemia, Decreased fertility, ...	ORPHA:870
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Summitt Syndrome	Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Macrocephaly, Obesity, Genu valgum...	ORPHA:3210
Conotruncal Heart Malformations	Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus...	OMIM:217095
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:480864
Adnp Syndrome	Low-set ears, Slanting of the palpebral fissure, Abnormality of the nail, Plagiocephaly, Trigonoc...	ORPHA:404448
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Hypotension, Pituitary adenoma, Graves disease, Adre...	ORPHA:199299
Intellectual Developmental Disorder, Autosomal Dominant 34	Coarse hair, Hearing impairment, Widely spaced teeth, Bilateral ptosis, Secondary microcephaly, A...	OMIM:616351
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Hearing impairment, Overlapping toe, Cryptorchidism, Ventricular septal de...	ORPHA:163956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Poor head control, Muscular dystrophy, Flexion contracture, Respiratory insufficiency due to musc...	OMIM:615249
Cardiofaciocutaneous Syndrome 2	Low-set ears, Fine hair, Anteverted nares, Ptosis, Absent eyebrow, Curly hair, High palate, Spars...	OMIM:615278
Parkinsonian-Pyramidal Syndrome	Shuffling gait, Spasticity, Myoclonus, Rigidity, Talipes equinovarus, Parkinsonism, Abnormal pyra...	ORPHA:171695
Masa Syndrome	Microcephaly, Hyperlordosis, Macrocephaly, Short stature, Kyphosis	OMIM:303350
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Chromosome 13Q33-Q34 Deletion Syndrome	Hearing impairment, Micrognathia, Open mouth, Irregular dentition, Deeply set eye, Epicanthus, Hy...	OMIM:619148
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity, Lumbar hyperlordosis, Microcephaly, Short stature, Scoliosis, Kyphosis	OMIM:616756
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Delayed eruption o...	ORPHA:289176
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Failur...	ORPHA:99885
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Diffic...	OMIM:255125
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, ...	OMIM:248390
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria	OMIM:614739
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Secondary microcephaly, Sensorineural hearing impairment, Patellar di...	ORPHA:353281
Teebi-Shaltout Syndrome	Low-set ears, Narrow mouth, Hypertelorism, Sparse hair, High, narrow palate, Broad nasal tip, Low...	OMIM:272950
Heart And Brain Malformation Syndrome	Low-set ears, High, narrow palate, Wide nasal bridge, Cleft lip, Depressed nasal bridge, Thick lo...	OMIM:616920
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Protruding tongue, Sen...	OMIM:214100
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia, Spasticity	OMIM:619170
Fg Syndrome 3	Fine hair, Frontal upsweep of hair, Sensorineural hearing impairment, Joint contracture, Relative...	OMIM:300406
Muckle-Wells Syndrome	Nephropathy, Vasculitis, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Sk...	ORPHA:575
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort...	ORPHA:73
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ...	OMIM:619355
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Cryptorchidism, Prol...	OMIM:227650
Histiocytosis, Familial Lipochrome	Histiocytosis, Polyarticular arthritis, Increased alpha-globulin	OMIM:235900
Celiac Disease, Susceptibility To, 1	Alopecia, Type I diabetes mellitus, Rickets, Celiac disease, Postnatal growth retardation, Recurr...	OMIM:212750
Hoxha-Aliu Syndrome	Low-set ears, Absent toenail, Epicanthus, Uplifted earlobe, Patellar dislocation, High palate, Hi...	OMIM:620662
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Kyphoscoliosis, Gait disturbance, Torticollis, Dysdiadochokinesis	ORPHA:98805
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe...	OMIM:249270
Desmosterolosis	Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Epicanthus, Short nose, Ab...	ORPHA:35107
Primrose Syndrome	Hearing impairment, Sparse body hair, Genu valgum, Narrow mouth, Hip contracture, Deeply set eye,...	OMIM:259050
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Decreased body weight, Mitten...	ORPHA:89842
Refsum Disease	Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Hemiplegia/hemiparesis, Short metacarpal, ...	ORPHA:773
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Alopecia, Gastrointestinal hemorrhage, Oral leukoplakia, Fine hair, Premature graying...	OMIM:613990
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Proptosis, Progressive hearing impairment, Umbilical hernia, Upslanted palpebral fissure, Oligodo...	OMIM:619234
Alpha-Thalassemia	Generalized edema, Congestive heart failure, Hepatosplenomegaly, Pleural effusion, Splenomegaly, ...	ORPHA:846
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Narrow mouth, Mitral regurgitation, Mitral valve prolapse, Cryp...	OMIM:601776
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Choanal atresia, Proptosis, Hepatitis, Low-set, posteriorly rotated ears, Failure to thrive in in...	ORPHA:228426
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Fetal Encasement Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergrowth, Upper limb undergrowth	OMIM:613630
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Inability to walk, Short stature, Osteoporosis, Athetosis	OMIM:257200
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Elbow flexion contracture, Kyphoscoliosis, Sho...	OMIM:184252
Myasthenic Syndrome, Congenital, 12	Waddling gait, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy	OMIM:610542
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v...	OMIM:609616
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ataxia, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Generalized muscle weakness, ...	ORPHA:436271
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity	OMIM:618878
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Micrognathia, Proximal radial head dislocation, Hypotelorism, Solitary median ma...	OMIM:602418
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Aspiration pneumonia, Genu valgum, Sensorineural h...	ORPHA:581
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Acetabular spurs, Horizontal ribs, Short ribs, Trident acetabulum, Lateral clavicle...	OMIM:617405
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Slender build, Postnatal growth retardation, Open mou...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Slender build, Postnatal growth retardation, Open mou...	ORPHA:363958
Cyclic Vomiting Syndrome	Cardiomyopathy, Lethargy, Ataxia, Growth delay, Muscle weakness	OMIM:500007
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Mandibular prognathia, Carious teeth, Kyphosis, Abnormal form of the vertebral...	ORPHA:2769
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Optic atrophy, Depressed nasal bridge, Osteopenia, Downturned corners of mouth, Hyp...	OMIM:618590
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Marburg Hemorrhagic Fever	Diarrhea, Hypothermia, Anorexia, Jaundice, Tachycardia, Abdominal pain, Shock, Elevated circulati...	ORPHA:99826
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Alopecia, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclit...	ORPHA:227982
Fraser Syndrome	Abnormality of the outer ear, Atresia of the external auditory canal, Hypertelorism, Abnormality ...	ORPHA:2052
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Optic nerve hypoplasia, Plagiocephaly, Hearing impairment, Failure to thrive, ...	OMIM:620455
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Esophageal stricture, Abnormal esophagus morphology, Constipation, Flexion contracture, Dysphagia...	OMIM:226600
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Gonadal dysgenesis, Tetralogy of Fallot, Hypogonadism, Low-set, posteriorly r...	ORPHA:3306
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Osteopenia, Wide anterior fontanel, Rhizomelia, Micromelia, Narrow che...	OMIM:610682
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Hypoplasia of the maxilla, Obesity, Telecanthus, Ptosis, Blepharophimosis, Cro...	ORPHA:397973
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Palmoplantar keratoderma, Smooth tongue, Atrophic scars, ...	ORPHA:79396
Pancreatic Agenesis-Holoprosencephaly Syndrome	Low-set ears, Abnormal external nose morphology, Hypoamylasemia, Small for gestational age, Hypop...	ORPHA:556955
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Microcornea, Female infertility...	OMIM:110100
Cornea Plana 2, Autosomal Recessive	Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Joint stiffness, Narrow nasal tip, Decreased body we...	ORPHA:2985
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl...	OMIM:119800
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Thoracic hypoplasia, Cervical spinal...	ORPHA:15
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis	ORPHA:210548
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Spastic paraplegia, Second degree atrioventricular block, Cer...	ORPHA:369929
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2...	OMIM:156510
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis	ORPHA:312
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Coarse hair, Carious teeth, Hypoplasia of the zygomatic bone, Micro...	ORPHA:1786
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Proptosis, Hearing impairment, Failure to thrive, Anteverted nares, Limb...	ORPHA:3339
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Small nail, Downturned corners of mouth, Tooth agenesis, Macrodontia, Protruding ear, Short philtrum	OMIM:618731
Infantile Spasms-Broad Thumbs Syndrome	Micrognathia, Optic disc pallor, Broad thumb, Cataract	ORPHA:3173
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ...	OMIM:619950
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Short palpebral fissure, Retrognathia, Failure to thrive, Hypertrichosis, Micrognat...	OMIM:608779
Noonan Syndrome	Abnormality of the spleen, Micrognathia, Sensorineural hearing impairment, Low posterior hairline...	ORPHA:648
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Al Kaissi Syndrome	High, narrow palate, Low-set ears, Small hand, Broad-based gait, Clinodactyly, Long philtrum, Pos...	OMIM:617694
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Abnormality of the hairline, Sensorineural hearing impairment, ...	OMIM:607872
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Exaggerated median tongue furrow, Small nail, Cleft mandible, Micrognathia, Sensori...	OMIM:608670
Dubowitz Syndrome	Low-set ears, Carious teeth, Velopharyngeal insufficiency, Postnatal growth retardation, Microgna...	OMIM:223370
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Recurrent otitis media, Open mouth, Sensorineural hearing ...	OMIM:194050
Dicarboxylic Aminoaciduria	Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Postencephalitic Parkinsonism	Involuntary movements, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidity, Generalized musc...	ORPHA:97349
Holoprosencephaly-Caudal Dysgenesis Syndrome	Low-set ears, Proptosis, Radial club hand, Median cleft upper lip, Microcephaly, Hypertelorism, C...	ORPHA:2165
Christianson Syndrome	Arthrogryposis multiplex congenita, Thick eyebrow, Abnormal thorax morphology, Joint hypermobilit...	ORPHA:85278
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a...	OMIM:606721
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Hearing impairment, Hypogonadism, Epiphyseal stippling, Microcep...	OMIM:302950
Sarcoidosis	Abnormal reproductive system morphology, Arrhythmia, Weight loss, Erythema nodosum, Tubulointerst...	ORPHA:797
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Carious teeth, Sparse lateral eyebrow, Ridged nail, Facial telangiectasia...	OMIM:614564
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Ankyloglossia, Genu valgum, Large fontanelles, Hyperbilirubinemia, Deeply set...	OMIM:619475
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Downturned corners of mouth, Spotty hyperpigmentation, Thick upper lip ve...	ORPHA:79133
Pseudoachondroplasia	Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Disproportion...	ORPHA:750
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg...	ORPHA:83461
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Primary Progressive Freezing Gait	Shuffling gait, Frequent falls, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Ba...	ORPHA:75567
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture, Hip disloc...	OMIM:203550
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Dry skin, Open mouth, Epicanthus, Everted lower lip vermilion, Upl...	OMIM:280000
Tularemia	Pneumonia, Cutaneous abscess, Otitis media, Skin rash, Conjunctival hyperemia, Erythema nodosum, ...	ORPHA:3392
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Fever, ...	ORPHA:319213
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Depressed nasal bridge, Short palpebral fissure, Hearing impairment, Downslanted...	ORPHA:284169
Gaucher Disease Type 1	Gingival bleeding, Osteopenia, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Patholog...	ORPHA:77259
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ge...	OMIM:177170
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic dis...	OMIM:608940
Auriculocondylar Syndrome 2B	Darwin tubercle of helix, Failure to thrive, Question mark ear, Telecanthus, Micrognathia, Narrow...	OMIM:620458
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Pneumonia, Reduced natural killer cell count, Depressed nasal bridge, Failure to th...	OMIM:242860
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Gaucher Disease	Aortic valve calcification, Gingival bleeding, Hearing impairment, Ataxia, Dysphagia, Abnormal bo...	ORPHA:355
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Short thorax, Arthrogryposis multiple...	OMIM:601809
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Cataract	ORPHA:329314
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Open bite, Micrognathia, Everted lower lip vermilion, Hypertelorism, High palate, Short...	ORPHA:1974
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology, Thin upper lip vermilion, Microcephaly, Short stature, Growth ...	ORPHA:2512
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Wiedemann-Steiner Syndrome	Low-set ears, Small hand, Broad-based gait, Recurrent otitis media, Postnatal growth retardation,...	OMIM:605130
Xylt1-Cdg	Joint dislocation, Proptosis, Long philtrum, Hirsutism, Joint hypermobility, Microcephaly, Trunca...	ORPHA:370930
Trisomy 9P	Dental crowding, Downturned corners of mouth, Hypoplastic fingernail, Impacted tooth, Fingernail ...	ORPHA:236
Emanuel Syndrome	Aortic valve stenosis, Tooth malposition, Low-set ears, Hearing impairment, Recurrent otitis medi...	ORPHA:96170
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hepatomegaly, Tachypnea, Calcinosis, Dyspnea, Metaphyseal irregu...	OMIM:239200
Walker-Warburg Syndrome	Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uv...	ORPHA:899
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Freckling, ...	ORPHA:79431
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis, Failure to thrive	OMIM:618237
Diabetic Embryopathy	Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Microcephaly, Frontal bossin...	ORPHA:1926
Gaisböck Syndrome	Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem...	ORPHA:90041
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Posterior plagiocephaly, Recurrent otitis media, Ankyloglossia, Micrognathia, Senso...	OMIM:619841
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Malnutrition, Gait ataxia, Hypothermia, Dysmetria, Gait disturbance, Hea...	ORPHA:99027
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos...	OMIM:614582
Atelosteogenesis Type I	Low-set ears, Joint dislocation, Proptosis, Absent or minimally ossified vertebral bodies, Teleca...	ORPHA:1190
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske...	ORPHA:682
Renal Nutcracker Syndrome	Varicocele, Dilatation of mesenteric artery, Renal artery stenosis, Dysmenorrhea, Hematuria, Prot...	ORPHA:71273
Proboscis Lateralis	Unilateral narrow palpebral fissure, Abnormal nasolacrimal system morphology, Epicanthus, Hyperte...	ORPHA:141099
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi...	ORPHA:90796
Lymphedema-Distichiasis Syndrome	Cataract, Ectropion, Proteinuria, Distichiasis, Ptosis, Arrhythmia, Varicose veins, Tubulointerst...	ORPHA:33001
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Difficulty walking, Type 1 muscle fiber predominance, Ragge...	ORPHA:353327
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Camptodactyly o...	ORPHA:2311
Pleural Mesothelioma	Obstruction of the superior vena cava, Abnormal cardiovascular system physiology, Weight loss	ORPHA:50251
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Primary ...	OMIM:245570
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Proptosis, Frontal bossing, Abnormal palate morphology, Turricephaly, ...	ORPHA:1540
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Proptosis, Carpal synostosis, Atrophic scars, Increased susceptibility to fractures, ...	OMIM:615349
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone...	OMIM:616469
Wiedemann-Steiner Syndrome	Low-set ears, Generalized hirsutism, Epicanthus, Hypertelorism, High palate, Short nose, Abnormal...	ORPHA:319182
Lymphedema, Primary, With Myelodysplasia	Cellulitis, Pancytopenia, Decreased CD4:CD8 ratio, Hypotelorism, Epicanthus, Acute myeloid leukem...	OMIM:614038
Isolated Complex I Deficiency	Poor head control, Vomiting, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Intrau...	ORPHA:2609
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy, Respirato...	ORPHA:3342
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Abnormality of the temporomandibular joint, Abnormal shoulder...	ORPHA:85408
Marden-Walker Syndrome	Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, ...	ORPHA:2461
Geroderma Osteodysplastica	Severe short stature, Mandibular prognathia, Abnormal epiphysis morphology, Recurrent fractures, ...	ORPHA:2078
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Methylcobalamin Deficiency Type Cble	Clinodactyly, Hearing impairment, Lower limb hypertonia, Postnatal growth retardation, Intrauteri...	ORPHA:2169
Tylosis With Esophageal Cancer	Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ...	OMIM:148500
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Gait ataxia, Intention tremor, Dysmetria, Rigidity, Parkinsonism, Gait disturbance, ...	ORPHA:93256
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Muscular dystrophy, Intrauterine growth retardation, Apnea, Subvalvular aor...	ORPHA:1052
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Spasticity, Skeletal muscle atrophy, Cardiomyopathy, Gait ataxia, Loss of ambulation, Hyperkineti...	OMIM:620089
Inflammatory Pseudotumor Of The Liver	Vomiting, Fever, Elevated circulating aspartate aminotransferase concentration, Biliary tract abn...	ORPHA:90003
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Umbilical hernia, Malar f...	OMIM:269250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Delayed epiphyseal ossification, Elbow dislocation, Dry skin, Micrognathia, Hyperbi...	OMIM:210710
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, El...	OMIM:265450
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Familial Anetoderma	High, narrow palate, Lumbar hyperlordosis, Irregular dentition, Generalized joint hypermobility	ORPHA:228277
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Mandibular prognathia, Dental malocclusion, EEG abnormality	ORPHA:1858
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Optic...	OMIM:169550
Semilobar Holoprosencephaly	Bifid uvula, Depressed nasal ridge, Failure to thrive, Proboscis, Aspiration pneumonia, Cyclopia,...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Depressed nasal ridge, Failure to thrive, Proboscis, Aspiration pneumonia, Cyclopia,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Depressed nasal ridge, Failure to thrive, Proboscis, Aspiration pneumonia, Cyclopia,...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Depressed nasal ridge, Failure to thrive, Proboscis, Aspiration pneumonia, Cyclopia,...	ORPHA:93924
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Hearing impairment, White hair, Camptodactyly of finger, Tracheomalac...	ORPHA:896
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Skeletal muscle atrophy, Methylmalonic aciduria, Cachexia, Ataxia, Short stature	ORPHA:1933
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Macrocephaly, Dolichocephaly, High palate, Facial palsy, Flexion contracture	OMIM:310400
Waardenburg-Shah Syndrome	Wide nasal bridge, Hearing impairment, Abnormality of the nose, Premature graying of hair, Underd...	ORPHA:897
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid...	OMIM:600116
Silver-Russell Syndrome	Premature adrenarche, Precocious puberty, Insulin resistance, Dental crowding, Downturned corners...	ORPHA:813
N-Acetylglutamate Synthase Deficiency	Vomiting, Failure to thrive, Hyperammonemia, Hypothermia, Hyperglutamatemia, Aggressive behavior,...	OMIM:237310
Trichodentoosseous Syndrome	Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Increased bone mineral d...	OMIM:190320
Dermotrichic Syndrome	Depressed nasal bridge, Hyperconvex toenail, Nail dystrophy, Aganglionic megacolon, EEG abnormali...	ORPHA:99688
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Ichthyosis, Inguinal hernia, Joint contracture, Gingivitis, Hyperkeratosis, Congenital nonbullous...	OMIM:614457
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Short metac...	ORPHA:85167
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Aplasia/Hypoplasia of the nails, Choanal atresia, Proptosis, Underdeveloped nasal alae, Downslant...	ORPHA:163979
Singleton-Merten Syndrome 2	Aortic valve stenosis, Aortic valve calcification, Abnormality of the dentition, Osteopenia, Oste...	OMIM:616298
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Cupped ear, Hearing impairment, Lacrimal duct aplasia, Widely spaced teeth, Absent...	OMIM:620193
Focal Facial Dermal Dysplasia Type Iii	Wide nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Sparse lateral eyebrow, Downturn...	ORPHA:1807
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Clumsiness, Parkinsonism, ...	OMIM:619911
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Focal Dermal Hypoplasia	Low-set ears, Supernumerary nipple, Absent toenail, Congenital diaphragmatic hernia, Brittle hair...	OMIM:305600
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Abnormal dental pulp morphology, Granuloma, Axillary freckling, Long philtrum...	ORPHA:363700
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Pancytopenia, Hyperbilirubinemia,...	OMIM:259720
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Micrognathia, Microcephaly, Distichiasis, Anemia, High palate, Short nose	ORPHA:2598
Beta-Thalassemia Intermedia	Osteopenia, Cholelithiasis, Hypogonadism, Adrenal insufficiency, High-output congestive heart fai...	ORPHA:231222
Houge-Janssens Syndrome 1	Hypoglycemia, Intrauterine growth retardation, Gait ataxia, Congenital muscular torticollis, Faci...	OMIM:616355
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Hypoglycemia, Feeding difficulties, Hyperg...	OMIM:251000
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Congenital diaphragma...	OMIM:312870
Trisomy 18	Narrow mouth, Congenital diaphragmatic hernia, Abnormal toenail morphology, Hernia, Epicanthus, C...	ORPHA:3380
Menkes Disease	Thickened skin, Micrognathia, Bowing of the long bones, Hernia, Tarsal synostosis, Sparse hair, A...	ORPHA:565
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexion contracture...	OMIM:619026
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca...	OMIM:613870
Woodhouse-Sakati Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Streak ovary, Anodontia, Bilateral sensori...	ORPHA:3464
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Cog8-Cdg	Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Ataxia	ORPHA:95428
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Micrognathia, Narrow mouth, Open mouth...	ORPHA:508533
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Limitation of...	ORPHA:95699
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Narrow mouth, Sensorineural hearing im...	ORPHA:1606
Mucopolysaccharidosis Type 6	Failure to thrive, Broad ribs, Joint stiffness, Genu valgum, Hernia, Short neck, Sinusitis, Kypho...	ORPHA:583
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Alopecia, Limitation of joint mobility, Sparse body hair, Epiphysea...	ORPHA:177
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Kyphoscoliosis, Spastic ataxia, Gait disturbance, Cervical spondylosis, Back pain	ORPHA:199354
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Micrognathia, Gingival overgrowth, Congenital diaphragmatic hernia, Om...	ORPHA:1834
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Hallermann-Streiff Syndrome	Natal tooth, Sparse body hair, Micrognathia, Narrow mouth, Sparse eyelashes, Sparse hair, High, n...	ORPHA:2108
16P12.1P12.3 Triplication Syndrome	Low-set ears, High, narrow palate, Short palpebral fissure, Retrognathia, Long philtrum, Failure ...	ORPHA:485405
Jansen-De Vries Syndrome	Small hand, Broad-based gait, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Sh...	OMIM:617450
Jackson-Weiss Syndrome	Coronal craniosynostosis, Proptosis, Malar flattening, Craniosynostosis, Calcaneonavicular fusion	OMIM:123150
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Maxillonasal Dysplasia	Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Tooth agenesis, Open bi...	ORPHA:1248
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate...	ORPHA:124
Retinitis Pigmentosa 43	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber	OMIM:618880
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Bazex-Dupré-Christol Syndrome	Hypoplasia of the ear cartilage, Sparse eyebrow, Coarse hair, Macrotia, Trichorrhexis nodosa, Spa...	ORPHA:113
Visceral Myopathy 1	Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn...	OMIM:155310
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Babinski sign, Bradykinesia	OMIM:619063
Pachydermoperiostosis	Thickened skin, Small hand, Clubbing of toes, Abnormal epiphysis morphology, Gastrointestinal hem...	ORPHA:2796
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Thin eyebrow, Sparse eye...	OMIM:612841
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Pectus carinatum, Scoliosis, Kyphosis	ORPHA:1548
Atelis Syndrome 2	Low-set ears, Gastroesophageal reflux, Clinodactyly, Downturned corners of mouth, Diastema, Thick...	OMIM:620185
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Congenital hip dislocation, Plagiocephaly, Long philtrum, Supernumerary nipple, Dow...	ORPHA:457279
Joubert Syndrome 1	Ataxia, Postaxial foot polydactyly, Clinodactyly, Hemifacial spasm, Episodic tachypnea, Oculomoto...	OMIM:213300
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders	OMIM:138930
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypertriglyceridemia, Pericardial effusio...	OMIM:619313
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Sparse eyebrow, Hypoplasia of the frontal bone, Conductive hearing impairment,...	ORPHA:306542
Joubert Syndrome 18	Camptodactyly, Intrauterine growth retardation, Intrahepatic biliary atresia, Kyphoscoliosis	OMIM:614815
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Dispropor...	OMIM:609223
Pelvis-Shoulder Dysplasia	Short palpebral fissure, Microglossia, Camptodactyly of finger, Facial hirsutism, Micrognathia, A...	ORPHA:2839
Monosomy 22	Retrognathia, Long philtrum, Contractures of the large joints, Low-set, posteriorly rotated ears,...	ORPHA:96123
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Doors Syndrome	Low-set ears, Wide nasal base, Toenail dysplasia, Atresia of the external auditory canal, Aspirat...	ORPHA:79500
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic steatosis, Rhabdomyolysis, Neonatal d...	OMIM:124000
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Cataract, Aortic valve stenosis, Allergic conjunctivitis, Thoracic scoliosis, ...	OMIM:176690
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss...	ORPHA:769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr...	OMIM:265400
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Cupped ear, Hearing impairment, Lacrimal duct aplasia, Lacrimal duc...	OMIM:620192
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Retrognathia, Sensorineural hearing ...	OMIM:602588
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Addison Disease	Adrenal calcification, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Thymoma,...	ORPHA:85138
Ring Chromosome 12 Syndrome	Low-set ears, High, narrow palate, Symphalangism of the thumb, Dystrophic toenail, Breast hypopla...	ORPHA:1439
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Distal amyotrophy, Gastro...	OMIM:603041
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Ichthyosis, Abnormality of skin pigmentation, Hypertrichosis	OMIM:612379
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Pfeiffer Syndrome Type 2	Low-set ears, Choanal atresia, Depressed nasal bridge, Proptosis, Atresia of the external auditor...	ORPHA:93259
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the...	OMIM:600132
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Fever, Hypoglycemia, Hyperammonemia, Pancreatitis, Abdominal pain	OMIM:620137
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Leg muscle stiffness, Tremor...	OMIM:615530
Wolf-Hirschhorn Syndrome	Micrognathia, Sensorineural hearing impairment, Low posterior hairline, Radioulnar synostosis, Ep...	OMIM:194190
Orofaciodigital Syndrome Xvii	Low-set ears, High, narrow palate, Hearing impairment, Retrognathia, Prominent nose, Decreased bo...	OMIM:617926
Dyskeratosis Congenita, Autosomal Recessive 5	Colitis, Esophageal stenosis	OMIM:615190
Pseudotrisomy 13 Syndrome	Low-set ears, Cleft upper lip, Median cleft palate, Upslanted palpebral fissure, Hypotelorism, Me...	OMIM:264480
Gaucher Disease Type 3	Aortic valve calcification, Osteolysis, Abnormal heart valve morphology, Increased susceptibility...	ORPHA:77261
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Corneal scarring, Frontal upsweep of hair, Reticular hyperpigmentation, Broad eyebrow, Generalize...	OMIM:301220
Monosomy 9Q22.3	Low-set ears, Delayed eruption of teeth, Long philtrum, Downslanted palpebral fissures, Umbilical...	ORPHA:77301
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism	OMIM:615270
Leigh Syndrome	Myopathy, Ventricular septal defect, Ophthalmoplegia, Ataxia, Athetosis, Dysphagia, Choreoathetos...	ORPHA:506
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, ...	ORPHA:2166
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal...	OMIM:128980
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Conductive hearing impairment, High-frequency sensorineural hearing impairment, Umbil...	OMIM:614557
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ...	ORPHA:2088
Ravine Syndrome	Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight	ORPHA:99852
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis	ORPHA:26137
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Carpenter Syndrome	Polysplenia, Umbilical hernia, Obesity, Cryptorchidism, Kyphoscoliosis	ORPHA:65759
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity	OMIM:103200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Highly arched eyebrow, Long philtrum, Dry skin, Prominent nose, Tented upper lip ve...	OMIM:619244
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic car...	OMIM:617303
Aicardi Syndrome	Precocious puberty, Small hand, Block vertebrae, Gastroesophageal reflux, Sparse lateral eyebrow,...	ORPHA:50
Eosinophilic Fasciitis	Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We...	ORPHA:3165
Meningococcal Meningitis	Hypotension, Fever, Shock, Hypothermia, Anorexia, Elevated circulating C-reactive protein concent...	ORPHA:33475
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Carious teeth, Palmoplantar keratoderma, Anoperineal fistula, Ch...	ORPHA:158668
Proteus Syndrome	Low-set ears, Carious teeth, Exostosis of the external auditory canal, Open mouth, Generalized hi...	ORPHA:744
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating hepatic transaminase ...	ORPHA:94086
Congenital Arthrogryposis With Anterior Horn Cell Disease	Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Short neck, Scoliosis, Kyphosis	OMIM:611890
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Failure to thrive, Hypoglycemia, Intrauterine growth retardation,...	OMIM:619055
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Syncope, Weight loss, Vascular dilatation, Bradycardia, Jaw cl...	ORPHA:221098
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Orofaciodigital Syndrome I	Low-set ears, Dry hair, Carious teeth, Hearing impairment, Ankyloglossia, Epicanthus, Hypertelori...	OMIM:311200
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Cholestasis, El...	OMIM:608104
Giacheti Syndrome	Hypotelorism	OMIM:612917
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the outer ear, Broad-based gait, Gastroesophageal reflux, Long philtrum, Overlappi...	ORPHA:466926
Hirschsprung Disease, Susceptibility To, 3	Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon	OMIM:613711
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegal...	OMIM:309900
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Corneal opacity, Retinal degeneration	OMIM:252650
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Failur...	OMIM:247200
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions	OMIM:601549
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Failure to thrive in infancy, Intrauterine growth retardation, Open mouth, Hip contra...	OMIM:616801
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Highly arched eyebrow, Hearing impairment, Anteverted nares, Micrognathia, Cle...	ORPHA:2282
Presynaptic Congenital Myasthenic Syndromes	Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Difficulty ...	ORPHA:98914
Congenital Myasthenic Syndrome	Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Difficulty ...	ORPHA:590
Three M Syndrome 1	Growth delay, Long philtrum, Thick lower lip vermilion, Decreased testicular size, Postnatal grow...	OMIM:273750
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormality of the diaphragm	ORPHA:2357
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Limb muscle weakness, Abnormal cranial nerve morphology, Cachexia, Abnor...	ORPHA:97229
Autosomal Recessive Spastic Paraplegia Type 23	Short stature, Waddling gait, Spastic gait, Kyphoscoliosis	ORPHA:101003
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, Thick eyeb...	ORPHA:436174
Mucopolysaccharidosis, Type Iiia	Coarse hair, Dense calvaria, Umbilical hernia, Joint stiffness, Inguinal hernia, Thickened ribs, ...	OMIM:252900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
X-Linked Agammaglobulinemia	Cellulitis, Alopecia, Recurrent pneumonia, Failure to thrive, Hepatitis, Osteomyelitis, Skin rash...	ORPHA:47
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Lower limb muscle wea...	ORPHA:363623
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet...	ORPHA:210122
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Mitochondrial Pyruvate Carrier Deficiency	Organic aciduria, Hypoglycemia	OMIM:614741
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Trichiasis, Pigmentary retinopathy, Failure to thrive, Lymphopenia, Cornea...	OMIM:618460
Pyruvate Carboxylase Deficiency	Tip-toe gait, Hypoglycemia, Abnormal pattern of respiration, Failure to thrive, Hyperglycemia, Tr...	ORPHA:3008
Fg Syndrome 5	Depressed nasal bridge, Diastema, Long philtrum, Trigonocephaly, Anteverted nares, Upslanted palp...	OMIM:300581
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Inguin...	ORPHA:397590
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Recurrent otitis media, Slender build, Narrow mouth, Reduced subcutane...	ORPHA:3455
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Flat occiput, Hearing impairment, Downturned corners of mouth, Failure to ...	ORPHA:96147
Diaphragmatic Hernia 4, With Cardiovascular Defects	Low-set ears, Finger syndactyly, 11 pairs of ribs, Micrognathia, Cryptorchidism, Ventricular sept...	OMIM:620025
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Atresia of the external auditory canal, Micrognathia, Tarsal synostosis, Non-midlin...	ORPHA:3429
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Hypoglycemia, Failure to thrive,...	ORPHA:79282
Viss Syndrome	Low-set ears, Exostosis of the external auditory canal, Genu valgum, Cleft soft palate, Micrognat...	OMIM:619472
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Abnormal...	ORPHA:324964
Glutathionuria	Eczematoid dermatitis, Hypotelorism	OMIM:231950
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Small scrotum, Limitation of joint mobility, Finger syndactyly, Hearing impairment,...	ORPHA:2990
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Nemaline bodies, Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardati...	OMIM:620275
Camurati-Engelmann Disease	Optic atrophy, Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Hearing imp...	ORPHA:1328
Alopecia Antibody Deficiency	Conductive hearing impairment, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormality o...	ORPHA:1006
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Retinal pigment epithelial mottling, Long philtrum, Downslanted palpebral...	OMIM:614105
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Squared superior portion of helix, Gingival overgrowth, Prominent me...	OMIM:618918
Mycetoma	Abnormal forearm bone morphology, Painless fractures due to injury, Pathologic fracture, Osteomye...	ORPHA:2583
Lethal Acantholytic Erosive Disorder	Natal tooth, Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Camptoda...	ORPHA:158687
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I...	OMIM:618620
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Fever, Cholestasis, Hyp...	ORPHA:292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Hearing impairment, Secondary microcephaly, Micrognathia, Narrow mouth, Large fontane...	OMIM:300868
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Genu valgum, Large fontanelle...	ORPHA:198
Bartsocas-Papas Syndrome	Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Alopecia t...	ORPHA:1234
Pseudohypoparathyroidism, Type Ib	Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Charcot-Marie-Tooth Disease Type 2B1	Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should...	ORPHA:98856
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Cupped ear, Ocular albinism, Micrognathia, Hearing abnormality, Upslanted palp...	ORPHA:1352
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Oral-pharyngeal dysphagia, Postnatal growth retardation, Arrhythmia, Atrial septal defect, Brittl...	OMIM:619184
Houge-Janssens Syndrome 3	Broad nasal tip, Proptosis, Plagiocephaly, Frontal bossing, Umbilical hernia, Macrocephaly, Ingui...	OMIM:618354
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Small for gestational age, Cle...	ORPHA:95706
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Broad thumb, Toe syndactyly, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Monosomy 13Q34	Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis	ORPHA:96168
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Decrease...	OMIM:608747
Adenylosuccinase Deficiency	Low-set ears, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Microce...	OMIM:103050
Wieacker-Wolff Syndrome	Broad alveolar ridges, High anterior hairline, Distal amyotrophy, Scoliosis, Retrognathia, Long p...	OMIM:314580
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
16P13.11 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Atresia of the external auditory canal, Cleft upper lip, Ca...	ORPHA:261236
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Long phi...	OMIM:619428
Infantile-Onset Spinocerebellar Ataxia	Optic atrophy, Abnormality of the autonomic nervous system	ORPHA:1186
Pfeiffer Syndrome Type 3	Low-set ears, Choanal atresia, Depressed nasal bridge, Proptosis, Hearing impairment, Limitation ...	ORPHA:93260
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Hyp...	OMIM:616113
Treacher Collins Syndrome 2	Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th...	OMIM:613717
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ...	OMIM:615830
Acute Adrenal Insufficiency	Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Hyperkalemia, Salt craving,...	ORPHA:95409
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Renal cyst, Patent ductus arteriosus, Seborrheic de...	ORPHA:488618
Pterygium Colli, Isolated	Low posterior hairline, Protruding ear	OMIM:177990
Surfactant Metabolism Dysfunction, Pulmonary, 1	Failure to thrive, Apnea, Tachypnea, Pulmonary arterial hypertension, Dyspnea, Clubbing	OMIM:265120
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Diarrhea, Abnormal fear-induced behavior, Muscle weakness, Difficulty ...	ORPHA:100924
Diamond-Blackfan Anemia 10	Low-set ears, Choanal atresia, Morgagni diaphragmatic hernia, Conductive hearing impairment, Atre...	OMIM:613309
Microform Holoprosencephaly	Choanal atresia, Cyclopia, Narrow nasal bridge, Anteverted nares, Tented upper lip vermilion, Hyp...	ORPHA:280200
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Gastrointestinal infarct...	ORPHA:464343
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ...	OMIM:607088
Lassa Fever	Menometrorrhagia, Oliguria, Shock, Conjunctivitis, Back pain	ORPHA:99824
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia	OMIM:618838
Solitary Median Maxillary Central Incisor	Choanal atresia, Anosmia, Cleft upper lip, Prominent median palatal raphe, Hypotelorism, Midnasal...	OMIM:147250
Vulvovaginal Gingival Syndrome	Gingivitis, Parakeratosis, Ridged nail, Oral ulcer	ORPHA:83453
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea...	ORPHA:91347
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Tetralogy Of Fallot	Proptosis	OMIM:187500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus	OMIM:601612
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Hearing impairment, Sparse eyelashes, Absence of Stensen duct, Blepharophimosis, A...	OMIM:604292
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational age, Hyperphosph...	OMIM:616026
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Short stature, Osteoporosis,...	OMIM:620532
Smooth Muscle Dysfunction Syndrome	Tachypnea, Pulmonary arterial hypertension, Atrial septal defect, Hypoperistalsis, Hypertension	OMIM:613834
Cranioectodermal Dysplasia 3	Short nail, Fine hair, Widely spaced teeth, Dry skin, Telecanthus, Micrognathia, Scaphocephaly, J...	OMIM:614099
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Lacrimal duct atresia, Microtia	ORPHA:139450
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Cardiomyopathy	ORPHA:93476
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Bradykinesia, Intenti...	OMIM:619725
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ...	OMIM:612953
Tetrasomy 18P	Long philtrum, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Narrow mouth, E...	ORPHA:3307
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin...	ORPHA:79096
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy...	OMIM:143880
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Dense calvaria, Hy...	OMIM:252930
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Joint hypermobility, Shoulder dislocation, Scoliosis, Kyphosis	ORPHA:2181
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Nail dystrophy	ORPHA:3162
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Tri...	ORPHA:2556
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Proptosis, Micrognathia, Sensorineural hearing impairment, Glossoptosis, Frontal bossing, Cleft p...	ORPHA:440354
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Decreased skull ossification, Delayed closure of the anteri...	OMIM:244460
Micro Syndrome	Wide nasal bridge, Optic atrophy, Low-set, posteriorly rotated ears, Anteverted nares, Micrognath...	ORPHA:2510
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo...	OMIM:610628
Polyarteritis Nodosa	Cardiomyopathy, Hypertension, Raynaud phenomenon, Abnormal lung morphology, Pleuritis, Pericarditis	ORPHA:767
Nance-Horan Syndrome	Abnormality of the dentition, Protruding ear, Supernumerary tooth, Mandibular prognathia, Short m...	ORPHA:627
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi...	ORPHA:3191
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Spastic paraplegia, Failure to thrive, Speech apraxia, Hepatomegaly...	ORPHA:415
Glycogen Storage Disease Due To Aldolase A Deficiency	Fever, Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myo...	ORPHA:57
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ...	OMIM:600901
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Pectus carinatum, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxia...	OMIM:183900
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Intrauterine growth retardation, Hyperammonemia, Loss of ambulation, Sparse hair, D...	OMIM:618253
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Gastroesophageal reflux, ...	ORPHA:464311
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Primary Sjögren Syndrome	Corneal perforation, Vasculitis, Arteritis, Parotitis, Chronic active hepatitis, Renal insufficie...	ORPHA:289390
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Aortic Valve Disease 3	Aortic root aneurysm, Ascending aortic dissection	OMIM:618496
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Hypogonad...	OMIM:617575
Joubert Syndrome 9	Episodic tachypnea, Oculomotor apraxia, Apnea	OMIM:612285
Hypophosphatemic Rickets, X-Linked Dominant	Rachitic rosary, Rickets, Osteomalacia, Enamel hypomineralization, Hypophosphatemic rickets, Genu...	OMIM:307800
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypoplasia of the ear cartilage, Lip pit, Supernumerary nipple, Large earlobe, Camptodactyly of f...	ORPHA:1236
Hermansky-Pudlak Syndrome 2	Low-set ears, Carious teeth, Periodontitis, Enlarged platelet dense granules, Recurrent otitis me...	OMIM:608233
Noonan Syndrome 2	Low-set ears, Micrognathia, Low posterior hairline, Epicanthus, Hypertelorism, Curly hair, Leukem...	OMIM:605275
Hypomelanosis Of Ito	Irregularly spaced teeth, Alopecia, Thick lower lip vermilion, Macular hypopigmented whorls, stre...	OMIM:300337
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Harlequin Ichthyosis	Limitation of joint mobility, Congenital ichthyosiform erythroderma, Ichthyosis, Eclabion, Hyperk...	ORPHA:457
Chanarin-Dorfman Syndrome	Alopecia, Sensorineural hearing impairment, Everted lower lip vermilion, Ectropion, Microtia	OMIM:275630
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyebrow, Abnormal form of the vertebral bodies, Abnormal cerebral v...	ORPHA:2067
Contractural Arachnodactyly, Congenital	Crumpled ear, Micrognathia, Mitral regurgitation, Hip contracture, Ventricular septal defect, Ara...	OMIM:121050
Mednik Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis	ORPHA:171851
Adrenocortical Carcinoma	Increased circulating cortisol level, Abnormality of reproductive system physiology, Hypertrichos...	ORPHA:1501
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Skeletal muscle atrophy, Long philtrum, Hypoglycemia, Thyroid carcino...	ORPHA:109
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Downslanted palpebral fissures, Bulbous nose, Telecanthus, Almond-shaped palpe...	OMIM:620292
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of...	ORPHA:2228
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Abnormal heart morphology, Speech apraxia, Obesity, Congenital diaphragmatic h...	ORPHA:261197
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Coarse hair, Limitation of joint mobility, Hearing ...	OMIM:253220
Chromosome 3Q13.31 Deletion Syndrome	Downslanted palpebral fissures, Decreased testicular size, Cryptorchidism, Epicanthus, Ptosis, Sh...	OMIM:615433
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Cryptorchidism, Microdontia, Joint...	OMIM:619718
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Cartilage-Hair Hypoplasia	Epicanthus, Neutropenia, Abnormal bone ossification, Sparse hair, Macrotia, Depressed nasal ridge...	ORPHA:175
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irreg...	OMIM:252600
Developmental And Epileptic Encephalopathy 48	Proptosis, Long eyelashes, Long palpebral fissure, Microcephaly, Hypsarrhythmia, Optic disc pallor	OMIM:617276
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Hypoketotic hy...	ORPHA:157
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Micrognathia, Lower limb undergrowth, Omphalocele, Abnormal rib morphology, Abnormally ossified v...	ORPHA:3035
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased liver function, Cardiomyopathy, Intrauterine growth retardation, Elevated...	OMIM:618839
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Umbilical hernia, Telecanthus, ...	OMIM:601499
Meckel Syndrome, Type 1	Low-set ears, Natal tooth, Micrognathia, Hypertelorism, Enlarged naris, Thin upper lip vermilion,...	OMIM:249000
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Homocystinuria, Hypotension, Cystathioninemia, Vomiting, Failure to thrive, Cystathioninuria, Dec...	OMIM:277400
Seckel Syndrome 8	Short stature, Kyphoscoliosis	OMIM:615807
Limbal Stem Cell Deficiency	Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea...	ORPHA:171673
Branchiootic Syndrome	Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can...	ORPHA:52429
Placental Insufficiency	Insulin resistance	ORPHA:439167
Kufor-Rakeb Syndrome	Blepharospasm, Leg muscle stiffness, Difficulty walking, Myoclonus, Upper motor neuron dysfunctio...	ORPHA:306674
Serkal Syndrome	Growth delay, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardat...	OMIM:618835
Craniofacioskeletal Syndrome	Choanal atresia, Short palpebral fissure, Downslanted palpebral fissures, Micrognathia, Hypoplast...	OMIM:300712
Blomstrand Lethal Chondrodysplasia	Low-set ears, Synostosis of joints, Depressed nasal bridge, Natal tooth, Proptosis, Long philtrum...	ORPHA:50945
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Tricuspid regurgitation, Mitral valve prolapse, Hemiparesis, Hepatomegaly, Let...	OMIM:620233
Pediatric-Onset Graves Disease	Keratitis, Proptosis, Failure to thrive, Small anterior fontanelle, Episcleritis, Splenomegaly, M...	ORPHA:525731
Wolman Disease	Vomiting, Failure to thrive, Fever, Acute hepatic failure, Splenomegaly, Abdominal distention, He...	OMIM:620151
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Mucopolysaccharidosis Type 1	Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart...	ORPHA:579
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar...	ORPHA:95494
Retinitis Pigmentosa 79	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617460
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Hypertrichosis, Postnatal growth retarda...	OMIM:210900
Glycerol Kinase Deficiency	Muscular dystrophy, Hypoglycemia, Myopathy, Lethargy, Hypertriglyceridemia, Short stature, Growth...	OMIM:307030
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Mend Syndrome	Low-set ears, Asymmetry of the mouth, Abnormal auditory evoked potentials, Failure to thrive, Tel...	ORPHA:401973
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Abnormality of the dentition, Dystroph...	OMIM:614929
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix	OMIM:617341
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Failure to thrive, Epiphyseal stippling, Large fontanelles, Inguinal hern...	OMIM:222765
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Facial hypertrichosis, Red-brown urine, Purple urine, Red urine, Loss of...	ORPHA:95159
Multiple Sulfatase Deficiency	Optic atrophy, Depressed nasal bridge, Coarse hair, Anteverted nares, Thick eyebrow, Joint stiffn...	ORPHA:585
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Increased circulating cortisol level, Decreased circulating ...	OMIM:219080
Orthostatic Hypotension 1	Hypomagnesemia, Intermittent hypothermia, Weakness of facial musculature, Increased blood urea ni...	OMIM:223360
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer, Polycystic ovaries, Hepatomegaly, Ch...	ORPHA:79259
Warburg Micro Syndrome 2	Optic atrophy, Undetectable visual evoked potentials, Secondary microcephaly, Prominent nasal bri...	OMIM:614225
Ruvalcaba Syndrome	Dental crowding, Synostosis of carpal bones, Hypopigmented skin patches, Downslanted palpebral fi...	ORPHA:3121
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Growth delay, Decreased muscle mass, Hyp...	OMIM:232200
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ...	OMIM:615925
Waardenburg Syndrome Type 2	Hearing impairment, Hypopigmented skin patches, Premature graying of hair, Telecanthus, White for...	ORPHA:895
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi...	OMIM:620067
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Natal tooth, Oral leukoplakia, Nail dystrophy...	OMIM:167210
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism...	OMIM:613280
Neu-Laxova Syndrome 2	Low-set ears, Depressed nasal ridge, Proptosis, Micrognathia, Microcephaly, Hypertelorism, Ableph...	OMIM:616038
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Dysphagia, Weight loss, Abnormal skeletal muscle morphology	ORPHA:142
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Spastic Paraplegia 53, Autosomal Recessive	Pectus carinatum, Hypertrichosis, Kyphosis, Joint hypermobility	OMIM:614898
Rahman Syndrome	Camptodactyly, Cryptorchidism, Kyphoscoliosis	OMIM:617537
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Decreased nerve conduction velocity, Pes cavus, Subcapsular cataract, Ro...	OMIM:612674
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Supernumerary lacrimal punctum, Lacrimal gland hypoplasia, Streak ovary, Decreased fertility, Pol...	ORPHA:572333
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla...	ORPHA:79414
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M...	OMIM:604377
Jacobsen Syndrome	Low-set ears, Micrognathia, Epicanthus, Hypertelorism, U-Shaped upper lip vermilion, Short nose, ...	OMIM:147791
Coffin-Siris Syndrome	Wide nasal base, Small nail, Hearing impairment, Aspiration pneumonia, Hypoplastic fifth fingerna...	ORPHA:1465
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Large fontanelles, Arthropathy, Wormian bones, Osteolyt...	OMIM:259100
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Decreased muscle mass, Akinesia, Myopathy, Rigidity, Tremor, Babinski ...	OMIM:234200
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Coffin-Siris Syndrome 11	Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Frontal bossing, Bulbous nose, ...	OMIM:618779
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Conductive hearing impairment, Retrognathia, Thi...	ORPHA:2785
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Piebaldism	Wide nasal bridge, Abnormal calvaria morphology, Hearing impairment, Long philtrum, Hypopigmented...	ORPHA:2884
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Epiphyseal stippling	OMIM:614876
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility	ORPHA:2239
Aspartylglucosaminuria	Wide nasal bridge, Abnormality of the dentition, Carious teeth, Umbilical hernia, Joint stiffness...	ORPHA:93
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Failure to thrive, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Early os...	ORPHA:397715
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Depressed nasal bridge, Broad nasal tip, Fine hair, Frontal bossing, Micrognathia, Wide mouth, Up...	ORPHA:363686
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Respiratory distress, Splenomegaly, Lethargy, Hepatomegaly, Ch...	ORPHA:79312
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri...	OMIM:252920
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Depressed nasal bridge, Limitation of joint mobility, Ectropion, Ocular al...	ORPHA:2719
Sialidosis Type 1	Skeletal muscle atrophy, Thick lower lip vermilion, Sensorineural hearing impairment, Hernia, Gai...	ORPHA:812
Primary Erythromelalgia	Vasculitis, Hypothermia	ORPHA:90026
Hereditary Central Diabetes Insipidus	Weight loss, Growth delay	ORPHA:30925
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Natal tooth, Cranial hyperostosis, Sparse eyelashes, Hypoplast...	OMIM:601345
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Hepatosplenomegaly, Micrognathia, Frontal upsweep of hair, Epicanthus, Hyperteloris...	OMIM:266920
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Hypopigmentation of the skin, Fair hair, Widely...	OMIM:105830
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Proptosis, Hypoplasia of the zygomatic bone, Long philtrum, Fine hair, Thick eyebr...	OMIM:614800
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Retrognathia, Intrauterine growth retardation, Ventricular s...	OMIM:614576
Dyggve-Melchior-Clausen Disease	Platyspondyly, Pectus carinatum, Rhizomelia, Hypoplasia of the odontoid process, Atlantoaxial ins...	ORPHA:239
Brachyolmia Type 3	Platyspondyly, Barrel-shaped chest, Short neck, Scoliosis, Kyphosis	OMIM:113500
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Short finger, Micrognathia, Abnormal cervical curvature, Increased ...	OMIM:312150
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Spondyloperipheral Dysplasia	Barrel-shaped chest, Short neck, Flat acetabular roof, Short distal phalanx of the 5th finger, Sh...	OMIM:271700
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Clubbing of fingers	OMIM:178500
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Osteolysis involving bones of the upper limbs, Camptodactyly, Flexion contracture, Hypo...	ORPHA:88630
Lacrimal Duct Defect	Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis	OMIM:149700
17Q11 Microdeletion Syndrome	Low-set ears, Thickened skin, Abnormality of the sphenoid sinus, Large hands, Precocious puberty,...	ORPHA:97685
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Marden-Walker Syndrome	Low-set ears, Joint contracture of the hand, Decreased muscle mass, Postnatal growth retardation,...	OMIM:248700
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, ...	ORPHA:700
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Highly arched eyebrow, Short thumb, Abnormal eyebrow morphology, A...	ORPHA:2319
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Ichthyosis, Agenesis of maxillary lateral incisor, Short stature...	OMIM:616390
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Abnormal testis morphology, Apla...	ORPHA:202
Nasolacrimal Duct Cyst	Cellulitis, Red eye, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Nar...	ORPHA:141083
Optic Atrophy-Intellectual Disability Syndrome	Abnormal helix morphology, Hearing impairment, Protruding ear, Short stature, Tapered finger	ORPHA:401777
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketo...	ORPHA:5
Lethal Congenital Contracture Syndrome 10	Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Micrognathia, ...	OMIM:617022
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Flexion contracture, Hyperkeratosis, Wide anterior fontanel	OMIM:609180
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus...	ORPHA:555877
Right Pulmonary Artery, Anomalous Origin Of, Familial	Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a...	OMIM:610338
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Microcephalic osteodysplastic primordial dwarfism, type III	Thick upper lip vermilion, Dislocation of the femoral head, Micrognathia, Hip contracture, High p...	OMIM:210730
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Congenital contracture, Intrauterine growth retardation, Sinus bradycar...	OMIM:618397
Chromosome 17Q12 Deletion Syndrome	Small nail, Micrognathia, Cryptorchidism, Ovarian cyst, Bilateral sensorineural hearing impairmen...	OMIM:614527
Wilson Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa...	ORPHA:905
Costello Syndrome	Low-set ears, Micrognathia, Limited elbow movement, Epicanthus, Thin nail, Hypertelorism, Curly h...	OMIM:218040
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Anteverted nares, Micrognathia, Upslanted palpebr...	ORPHA:2306
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Intellectual Developmental Disorder, Autosomal Recessive 65	Supernumerary nipple, Downslanted palpebral fissures, Bulbous nose, Prominent nasal bridge, Ingui...	OMIM:618109
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Conjunctivitis, Recurrent sinusitis	OMIM:613493
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Hyperpigmentation of the skin, High palate, Brittle hair	ORPHA:50812
Triploidy	Hypospadias, Finger syndactyly, Intestinal malrotation, Low-set, posteriorly rotated ears, Intrau...	ORPHA:3376
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Gastroesophageal reflux, Failure to thrive, Eleva...	OMIM:615595
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad...	ORPHA:95496
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Inability to walk, Multiple joint contractures, Tremor, Babins...	OMIM:128100
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concen...	OMIM:277380
Lyme Disease	Arrhythmia, Joint swelling, Atrioventricular block	ORPHA:91546
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Renal insufficiency, Conjunctival hyperemia, Conjunctivitis, Macul...	OMIM:191900
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Difficulty walking, Gait ataxia, Dysmetria, Osteoporosis	ORPHA:529665
Premature Aging Syndrome, Okamoto Type	Low-set ears, Abnormal hair morphology, Osteoporosis, Diabetes mellitus, Abnormal pinna morphology	OMIM:601811
Chromosome 9P Deletion Syndrome	Low-set ears, Micrognathia, Narrow mouth, Epicanthus, Narrow palpebral fissure, Hypertelorism, Hi...	OMIM:158170
Hypomagnesemia 3, Renal	Rickets, Failure to thrive, Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide ...	OMIM:248250
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Fair hair, Obesity, Anteverted nares, Malar flattening, Blue irides, Red ...	OMIM:614613
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension	OMIM:234810
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ...	ORPHA:958
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Thin ribs, Rhizomelia, Narrow chest, Severe limb shortening, Micromelia, ...	OMIM:151210
Alstrom Syndrome	Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Hyperglyce...	OMIM:203800
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism, Downslanted palpebral fissures	OMIM:618512
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Anasarca, Biventricular hypertrophy,...	OMIM:619573
Glucocorticoid Deficiency 3	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:609197
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Depressed nasal bridge, Cupped ear, Long philtrum, Large fleshy ears, Frontal bossi...	OMIM:614080
Simpson-Golabi-Behmel Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Ventricular sept...	ORPHA:373
Tooth Agenesis, Selective, 8	Sparse eyebrow, Selective tooth agenesis, Dry skin, Microdontia, Sparse hair	OMIM:617073
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Short distal phalanx of the thumb, Cone-shaped epiphy...	ORPHA:221139
Yellow Nail Syndrome	Biliary tract neoplasm, Yellow nails, Toenail dysplasia, Abnormal fingernail morphology, Fingerna...	ORPHA:662
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Cherry red spot of the macula, Foam cells, Anterior beaking of lumbar vertebrae, O...	OMIM:230650
Toriello-Carey Syndrome	Low-set ears, Wide anterior fontanel, Sparse eyebrow, Short palpebral fissure, Hearing impairment...	ORPHA:3338
Warburg-Cinotti Syndrome	Low-set ears, Erythema, Atresia of the external auditory canal, Epicanthus, Flexion contracture o...	OMIM:618175
Catel-Manzke Syndrome	Low-set ears, Narrow naris, Micrognathia, Narrow mouth, Genu valgum, Hypertelorism, High palate, ...	OMIM:616145
Aicardi-Goutieres Syndrome 9	Basal ganglia calcification, Cerebral calcification, Hepatosplenomegaly, Hepatic steatosis, Weigh...	OMIM:619487
Pallister-Killian Syndrome	Low-set ears, Hyperpigmented streaks, Hearing impairment, Supernumerary nipple, Delayed cranial s...	OMIM:601803
Gitelman Syndrome	Recurrent fever, Rhabdomyolysis, Generalized muscle weakness, Ataxia, Abdominal pain, Polydipsia,...	OMIM:263800
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Obesity, Scoliosis, Kyphosis	OMIM:618124
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Oral leukoplakia, Small nail, Esophageal stricture, Pterygium of nails, Nail dystr...	OMIM:224230
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection	OMIM:616166
Fibrochondrogenesis 2	Platyspondyly, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Malar flattening, Short rib...	OMIM:614524
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Long philtrum, Nail dystrophy, Parakeratosis, Follicular hyperkeratosis...	OMIM:615225
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat...	ORPHA:397744
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce...	ORPHA:3337
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Feeding difficul...	ORPHA:2924
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Triangular nasal tip, Micrognathia, Open mouth, Protruding tongue, Genu valgum, Sen...	OMIM:309580
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Hypoplastic fingernail, Hypoplastic fifth fingernail, Micrognathia, Open m...	OMIM:619356
Acromicric Dysplasia	Long philtrum, Thick lower lip vermilion, Abnormal eyebrow morphology, Long eyelashes, Decreased ...	ORPHA:969
Primary Ciliary Dyskinesia	Abnormal sperm motility, Bronchiectasis, Female infertility, Recurrent otitis media, Abnormal inf...	ORPHA:244
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H...	ORPHA:31824
Hereditary Coproporphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Atypical scarri...	ORPHA:79273
Usher Syndrome, Type 1M	Optic disc pallor, Drusen	OMIM:618632
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Failure to thrive, Long philtrum, Contractures of the large joints, Low-set, poste...	ORPHA:521426
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Splenomegaly, Congestive heart failure	ORPHA:90033
Baralle-Macken Syndrome	Cataract, Obesity, Upslanted palpebral fissure, Hirsutism, Urinary incontinence, Kyphosis	OMIM:619255
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp...	ORPHA:85443
Holoprosencephaly 3	Bifid uvula, Depressed nasal bridge, Cleft lip, Proptosis, Abnormality of the nose, Proboscis, Si...	OMIM:142945
Ablepharon-Macrostomia Syndrome	Low-set ears, Hearing impairment, Dry skin, Absent eyelashes, Ventral hernia, Absent eyebrow, Hyp...	OMIM:200110
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Joint contracture	OMIM:615704
Pelizaeus-Merzbacher Disease, Connatal Form	Failure to thrive, Difficulty walking, Inability to walk, Abnormal morphology of musculature of p...	ORPHA:280210
Developmental And Epileptic Encephalopathy 78	Inability to walk, Hypothermia	OMIM:618557
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Highly arched eyebrow, Tongue atrophy, Decreased muscle mass, Hypermo...	OMIM:615065
Silver-Russell Syndrome 3	Low-set ears, Small hand, Retrognathia, Elbow contracture, Unilateral cryptorchidism, Postnatal g...	OMIM:616489
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Optic atrophy, Conical tooth, Dental malocclusion, Unilateral narrow palpebral...	OMIM:618727
Hypochondroplasia	Disproportionate short-limb short stature, Macrocephaly, Lumbar hyperlordosis, Limited elbow exte...	OMIM:146000
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur...	ORPHA:2772
Spinal Arteriovenous Metameric Syndrome	Lymphangioma, Abnormality of the vertebral column, Cutaneous angiolipomas, Kyphoscoliosis	ORPHA:53721
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ...	OMIM:619648
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, ...	OMIM:227810
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Rachitic rosary, Failure to thrive, Micromelia, Incre...	OMIM:241500
Irida Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis	ORPHA:209981
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Caffey Disease	Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos...	ORPHA:1310
Hypercholanemia, Familial 1	Rickets, Failure to thrive	OMIM:607748
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Immunodeficiency 12	Recurrent aphthous stomatitis, Short stature, Osteoporosis, Cheilitis, Growth delay, Clubbing, Es...	OMIM:615468
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst...	OMIM:616170
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Pes planus, Astigmatism	OMIM:619328
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Weismann-Netter Syndrome	Horizontal sacrum, Calvarial hyperostosis, Scoliosis, Delayed eruption of permanent teeth, Kyphosis	OMIM:112350
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Difficulty walking, Facial diplegia, Foot dorsiflexor weak...	ORPHA:329478
Mycophenolate Mofetil Embryopathy	Atresia of the external auditory canal, Hearing impairment, Tracheomalacia, Anotia, Micrognathia,...	ORPHA:268249
Tibial Hemimelia	Absent tibia	OMIM:275220
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Highly arched eyebrow, Proptosis, Underdeveloped nasal alae, Widely spaced tee...	OMIM:615803
Verheij Syndrome	Wide nasal bridge, Small for gestational age, Broad nasal tip, Retrognathia, Long philtrum, Antev...	OMIM:615583
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Proptosis, Failure to thrive, Downslanted palpebral fissures, Flexion contracture	ORPHA:157965
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Long philtrum, Tricuspid regurgitation, Limited elbow extension, Butterfly ver...	OMIM:618870
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	OMIM:617251
Treacher Collins Syndrome 1	Choanal atresia, Preauricular hair displacement, Conductive hearing impairment, Atresia of the ex...	OMIM:154500
Noonan Syndrome 10	Low-set ears, Sparse eyebrow, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis,...	OMIM:616564
Japanese Encephalitis	Skeletal muscle atrophy, Elbow flexion contracture, Distal lower limb muscle weakness, Pulmonary ...	ORPHA:79139
Intellectual Developmental Disorder, Autosomal Dominant 68	Retrognathia, Frontal bossing, Bulbous nose, Joint contracture of the 5th finger, Deeply set eye,...	OMIM:619934
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Narrow mouth, Abnormal cranial nerve morp...	ORPHA:138
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Hypocalcemia, Myositis, Hyperkalemia, Highly elevated creatine kinase	ORPHA:99845
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Dyskeratosis Congenita, Autosomal Recessive 8	Inflammation of the large intestine, Reduced natural killer cell count, Oral leukoplakia, Pancyto...	OMIM:620133
Bachmann-Bupp Syndrome	Dilation of Virchow-Robin spaces, Hypoglycemia, Cerebral calcification, Large for gestational age...	OMIM:619075
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Cerebral calcification, Pancytopenia, Hepatic steatosis, Cirrhosis, H...	OMIM:613658
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ...	OMIM:610706
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, ...	ORPHA:98850
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Depressed nasal bridge, Abnormal auditory evoked potentials, Irregular dentition, Sensorineural h...	OMIM:619260
Dystonia-Deafness Syndrome 1	Loss of ambulation, Small for gestational age, Kyphoscoliosis	OMIM:607371
Athyreosis	Muscle weakness, Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay, F...	ORPHA:95713
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hip osteoarthritis, Severe short stature, Hump-shaped mound of bone in central and...	ORPHA:99642
Osteosarcoma	Pathologic fracture, Joint swelling, Weight loss, Osteolysis	ORPHA:668
Encephalitis Lethargica	Lethargy, Upper limb muscle weakness, Bradycardia	ORPHA:83600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Portal Hypertension, Noncirrhotic, 2	Esophageal varix, Hepatocellular carcinoma	OMIM:619463
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Spasticity, Bradykinesia, Limb ataxia, Gait ataxia, Rigidity, Ataxi...	ORPHA:98760
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Flexion contractu...	OMIM:619040
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m...	OMIM:603034
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Retinitis Pigmentosa 74	Posterior polar cataract, Pigmentary retinopathy, Polydactyly, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Rodrigues Blindness	Tooth malposition, Fine hair, Protruding ear, Short stature, Sparse hair	OMIM:268320
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormality of the extraocular muscles, Myositis, Weight loss, Keratoconjunctivitis sicca, Tubulo...	ORPHA:79078
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Myoclonus, Cardiomegaly, Tachypne...	OMIM:618278
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Disproportionate s...	ORPHA:93352
Hennekam Syndrome	Low-set ears, Lymphopenia, Narrow mouth, Epicanthus, Hypertelorism, Abnormal pinna morphology, Ab...	ORPHA:2136
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma	ORPHA:2698
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios...	OMIM:615220
Manganese Poisoning	Akinesia, Postural tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Gait ...	ORPHA:306682
Hypochondroplasia	Abnormal form of the vertebral bodies, Childhood onset short-limb short stature, Joint hypermobil...	ORPHA:429
Chronic Pneumonitis Of Infancy	Intercostal retractions, Failure to thrive, Respiratory distress, Tachypnea, Hyperventilation	ORPHA:91359
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia	OMIM:210200
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis, Gastrointestinal hemorrhage	ORPHA:79301
Intellectual Developmental Disorder, Autosomal Dominant 52	Downturned corners of mouth, Bilateral cryptorchidism, Macrocephaly, Lumbar hyperlordosis, Open m...	OMIM:617796
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Angioedema, Cerebral ischemia, Rhabdomyolysis, Muscle ...	ORPHA:449285
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Ichthyosis, Alopecia, Everted lower lip vermilion	OMIM:242510
Intellectual Disability-Developmental Delay-Contractures Syndrome	Congenital foot contractures, Scoliosis, Kyphosis	ORPHA:3454
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Low-set ears, Short finger, Amyoplasia, Hypoplastic heart, Intrauterine growth retarda...	OMIM:253290
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Aspirat...	ORPHA:52368
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Difficulty walking, Intrauterine growth retardation, Dysmetria, Tremor, Limb hype...	ORPHA:572798
Lead Poisoning	Chronic kidney disease, Decreased male libido, Abnormality of the menstrual cycle, Decreased fema...	ORPHA:330015
Chronic Graft Versus Host Disease	Alopecia, Abnormal vagina morphology, Urinary bladder inflammation, Fasciitis, Nail dystrophy, Ph...	ORPHA:99921
Pulmonary Arteriovenous Malformation	Epistaxis, Bacterial endocarditis, Gastrointestinal infarctions, Pulmonary hemorrhage, Palpitatio...	ORPHA:2038
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Failure to thrive in infancy, Osteomyelitis, Broad ribs, Joint swelling,...	OMIM:612852
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Disproportionate tall stature, Pulmonary embolism, Dental crowding, ...	ORPHA:394
Heyn-Sproul-Jackson Syndrome	Epicanthus, Sparse hair, Microcephaly, Decreased body weight	OMIM:618724
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Greenberg Dysplasia	Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Barrel-shaped chest, D...	OMIM:215140
Nance-Horan Syndrome	Diastema, Macrotia, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Scr...	OMIM:302350
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Chromosome 2P16.1-P15 Deletion Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Cr...	OMIM:612513
Peroxisome Biogenesis Disorder 3B	Malar flattening, Single transverse palmar crease, Sensorineural hearing impairment, Ataxia, Stea...	OMIM:266510
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a...	OMIM:613854
Craniotubular Dysplasia, Ikegawa Type	Wide nasal bridge, Optic atrophy, Proptosis, Hearing impairment, Long philtrum, Thick lower lip v...	OMIM:619727
Tenosynovial Giant Cell Tumor	Chondrocalcinosis, Limitation of joint mobility, Conductive hearing impairment, Abnormal shoulder...	ORPHA:66627
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia	OMIM:306950
Garg-Mishra Progeroid Syndrome	Dental crowding, Small nail, Persistent open anterior fontanelle, Secondary microcephaly, Bulbous...	OMIM:620601
Trichodental Dysplasia	Conical tooth, Fine hair, Hypodontia, Microcephaly, Slow-growing hair, Brittle hair, Sparse hair,...	OMIM:601453
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Loeys-Dietz Syndrome 1	Low-set ears, Hypoplasia of the musculature, Micrognathia, Mitral valve prolapse, Arachnodactyly,...	OMIM:609192
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Broad-based gait, Hepatosplenomegaly, Kyphoscoliosis, Ataxia, Camptodactyly, Macroglossia, Neurop...	ORPHA:397709
Bardet-Biedl Syndrome 19	Obesity, Hepatic steatosis	OMIM:615996
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Vomiting, Hypoglycemia, Cardiomyopathy, ...	OMIM:616483
Kagami-Ogata Syndrome	Depressed nasal bridge, Limitation of joint mobility, Pursed lips, Large for gestational age, Mic...	ORPHA:254519
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Highly arched eyebrow, Abnormal helix morphology, Wide nasal bridge, Proptosis, Lon...	ORPHA:1519
Biotinidase Deficiency	Apnea, Splenomegaly, Tachypnea, Lethargy, Ataxia, Hepatomegaly	OMIM:253260
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Tented philtrum, Esophagitis, Narrow mouth, Patellar aplasia, Patellar dislocation,...	ORPHA:495818
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Optic atrophy, Cessation of head growth, Failure to thrive, Long philtrum, Contract...	OMIM:617527
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Alopecia, Band keratopathy, Chronic mucocutaneous candidiasis, Hepatitis, Keratoconjunc...	OMIM:269200
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Atresia of the external auditory canal, Wide anterior fontanel, Macrocephaly	OMIM:601356
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Long philtrum, Downslanted palpebral fissures, Prominent nasal bridge, Limited...	ORPHA:401935
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Noonan Syndrome 3	Low-set ears, Hypoplastic nasal bridge, Juvenile myelomonocytic leukemia, Downslanted palpebral f...	OMIM:609942
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Genu varum, Hypocalcemia	OMIM:619073
Amish Lethal Microcephaly	Limitation of joint mobility, Cleft soft palate, Micrognathia, Decreased skull ossification, Limb...	ORPHA:99742
Hypothyroidism, Congenital, Nongoitrous, 2	Abdominal distention, Umbilical hernia, Hyperbilirubinemia, Hypothermia, Feeding difficulties in ...	OMIM:218700
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Alexander Disease Type I	Cachexia, Vomiting, Dysphagia, Failure to thrive	ORPHA:363717
Anauxetic Dysplasia 1	Aortic valve stenosis, Atlantoaxial dislocation, Platyspondyly, Rhizomelia, Severe short stature,...	OMIM:607095
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Failure to thrive, Sea-blue histiocytosis, Joint stiffness...	OMIM:230600
Optic Atrophy 14	Optic disc pallor	OMIM:620550
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Baker-Gordon Syndrome	Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Epicanthus, ...	OMIM:618218
Encephalopathy Due To Sulfite Oxidase Deficiency	Long philtrum, Deeply set eye, Microcephaly, Thick vermilion border, Short nose	ORPHA:833
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Decrease...	OMIM:201750
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Episodic flaccid weakness, Respiratory paralysi...	ORPHA:681
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Large for gestational age,...	OMIM:600501
Retinitis Pigmentosa 1	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:180100
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Increased susceptibility to fractures, Bicon...	OMIM:166200
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Genu recurvatum, Proptosis, Upslanted palpebral fissure, Joint hypermobility, Deeply set eye, Caf...	OMIM:618707
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar...	ORPHA:727
Distal Deletion 19P	Alopecia, Hypoplasia of the maxilla, Conductive hearing impairment, Keloids, Umbilical hernia, Lo...	ORPHA:96129
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Tip-toe gait, Inability to walk, Attention deficit hyperactivity disorder, Ga...	ORPHA:216866
Eales Disease	Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis...	ORPHA:40923
Familial Expansile Osteolysis	Pathologic fracture, Fragile teeth, Thin bony cortex, Osteolysis, Premature loss of teeth	OMIM:174810
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ...	OMIM:607624
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Tip-toe gait, Difficult...	ORPHA:300605
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Frontal balding, Increased urinary cortisol level, Female pseudohermaphroditi...	ORPHA:786
Focal Facial Dermal Dysplasia 3, Setleis Type	Depressed nasal bridge, Thick upper lip vermilion, Bulbous nose, Low anterior hairline, Epicanthu...	OMIM:227260
Harel-Yoon Syndrome	Optic atrophy, Talipes equinovalgus, Micrognathia, Peripheral axonal neuropathy, Developmental ca...	OMIM:617183
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Arthrogryposis multiplex congenita, Growth delay, Umbilical hernia, Elbow flex...	OMIM:618947
Werner Syndrome	Hypogonadism, Alopecia of scalp, Scleroderma, Short stature, Osteoporosis, Reduced bone mineral d...	OMIM:277700
Fanconi Anemia, Complementation Group F	Pneumonia, Conductive hearing impairment, Failure to thrive, Leukopenia, Microcephaly, Hyperpigme...	OMIM:603467
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Abnormality of the ureter, Intrauterine gr...	OMIM:180860
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails	OMIM:242150
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Temperature instability, Intermittent hypothermia...	OMIM:608643
Autosomal Recessive Spastic Paraplegia Type 9B	Spastic gait, Skeletal muscle atrophy, Tip-toe gait, Kyphoscoliosis, Short stature, Growth delay	ORPHA:447760
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Joint subluxation, Atrophic scars, Joint hypermobility, Wormian bones, Hyperlord...	OMIM:617821
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio...	OMIM:152950
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Short stature, Lymphopenia, Scoliosis, Kyphoscoliosis	ORPHA:391307
Hydranencephaly	Stiff neck, Hypotelorism, Abnormality of fontanelles, Infantile sensorineural hearing impairment,...	ORPHA:2177
Granulomatosis With Polyangiitis	Epistaxis, Proptosis, Skin ulcer, Abnormality of the nose, Otitis media, Skin rash, Sensorineural...	ORPHA:900
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin...	OMIM:202200
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Posterior plagiocephaly, Carious teeth, Ankyloglossia, Genu valgum, Epicanthus, Eve...	OMIM:615873
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Micrognathia, Kyphosis, Cervical ribs	ORPHA:77300
Chilblain Lupus	Hyperkeratosis	ORPHA:90280
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Ketonuria, Organic aciduria, Failure to thrive, Skeletal muscle atrophy, Hypogly...	OMIM:210210
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Ray...	ORPHA:91139
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Depressed nasal bridge, Long philtrum, Short nose, Anteverted nares, Micrognathia, ...	OMIM:257300
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Carious teeth, Anal fissure, Ankyloglossia, Narrow mouth, Dysphagia, Osteopenia, Gastroesophageal...	ORPHA:79408
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment, Hypotel...	ORPHA:3186
Canavan Disease	Optic atrophy, Hearing impairment, Microcephaly, Hypsarrhythmia, Delayed closure of the anterior ...	OMIM:271900
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation	ORPHA:858
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac...	OMIM:200600
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Emphysema, Mitral regur...	ORPHA:363618
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity	OMIM:618160
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Sparse body hair, Dry skin, Sparse eyelashes, Absent eyelashes, Abse...	OMIM:305100
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia, Conc...	OMIM:252010
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Iris hypopigmentation, Proptosis, Hearing impairment, Tinnitus	ORPHA:53719
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Pyruvate Carboxylase Deficiency	Athetosis, Hypoglycemia, Proximal renal tubular acidosis	OMIM:266150
Plummer-Vinson Syndrome	Tongue atrophy, Glossitis, Dysphagia, Esophageal web	ORPHA:54028
Eec Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Xerostomia, Sensorineural hearing impairment, A...	ORPHA:1896
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc...	OMIM:201910
Combined Oxidative Phosphorylation Deficiency 58	Ophthalmoparesis, Vomiting, Hypoglycemia, Difficulty walking, Feeding difficulties, Gait ataxia, ...	OMIM:620451
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Broad nasal tip, Failure of eruption of permanent teeth, Carpal synostosis, Fron...	OMIM:272460
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Acrocardiofacial Syndrome	Low-set ears, Wide nasal bridge, Joint dislocation, Proptosis, Cleft upper lip, Camptodactyly of ...	ORPHA:2008
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Fine hair, Thick lower lip vermilion, Frontal bossing, Tented upper lip vermi...	OMIM:615828
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Coffin-Siris Syndrome 3	Abnormal heart morphology, Intrauterine growth retardation, Short stature, Macroglossia, Short di...	OMIM:614608
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Hearing impairment	OMIM:614651
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Spinocerebellar Ataxia 48	Gait ataxia, Dysmetria, Cachexia, Ataxia, Urinary incontinence	OMIM:618093
Opitz Gbbb Syndrome	Low-set ears, Natal tooth, Hearing impairment, Ankyloglossia, Micrognathia, Large fontanelles, Co...	ORPHA:2745
Noonan Syndrome 9	Sparse eyebrow, Hydroureter, Downslanted palpebral fissures, Cryptorchidism, Prominent corneal ne...	OMIM:616559
Hypocomplementemic Urticarial Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Hematuria, Proteinuria, Small vessel vasculitis, Ar...	ORPHA:36412
Atrial Septal Defect 9	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Bradykinesia, Slowed slurred speech	OMIM:619827
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Umbilical hernia, Abnormal heart morphology, Postnatal growth retardation, Large for gestational ...	ORPHA:254534
Liver Disease, Severe Congenital	Pneumonia, Ascites, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ven...	OMIM:619991
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder,...	OMIM:617600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal femoral torsion, Abnormal right ventricle morphology, Tibial torsion, Long hallux, Thick...	ORPHA:500095
Craniodigital-Intellectual Disability Syndrome	Long eyelashes, Thick eyebrow, Micrognathia, Narrow nasal bridge, Generalized hirsutism, Abnormal...	ORPHA:1514
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Alopecia, Sparse lateral eyebrow, Recurrent fever, Trichorrhexis nodosa, ...	OMIM:261990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Retrognathia, Deeply set eye, Elevated circulating creatine kinase concentration, M...	OMIM:614643
Surfactant Metabolism Dysfunction, Pulmonary, 2	Failure to thrive, Respiratory distress, Tachypnea, Pulmonary arterial hypertension, Dyspnea, Clu...	OMIM:610913
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Small nail, Cleft upper lip, Hypogonadism, Hypoplastic nipples, EEG...	OMIM:273400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Decreased muscle mass, Postnatal growth retardation, Micrognathia, Narrow m...	ORPHA:96182
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Hip dislocation, Dislocated radial head, Genu valgum, Delayed patella...	OMIM:603546
Neovascular Glaucoma	Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Retinal vascula...	ORPHA:94058
Dyskeratosis Congenita, Autosomal Dominant 6	Oral leukoplakia, Esophageal stenosis	OMIM:616553
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Xerostomia, Gastrointestinal carcin...	OMIM:175500
Crimean-Congo Hemorrhagic Fever	Diarrhea, Retinal hemorrhage, Nausea and vomiting, Anorexia, Hepatomegaly, Jaundice, Tachycardia,...	ORPHA:99827
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Flexion contracture, Scolios...	ORPHA:1545
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Hearing impairment, Pancytopenia, Chro...	OMIM:227645
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pathologic fracture, ...	OMIM:230800
Atelosteogenesis, Type I	Low-set ears, Depressed nasal bridge, Proptosis, Elbow dislocation, Knee dislocation, Short nose,...	OMIM:108720
Jeune Syndrome	Narrow chest, Abnormal clavicle morphology, Micromelia, Abnormal rib morphology, Abnormal sternum...	ORPHA:474
Cleft Velum	Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Aspiratio...	ORPHA:99772
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Netherton Syndrome	Brittle scalp hair, Sparse eyebrow, Villous atrophy, Parakeratosis, Intestinal atresia, Brittle h...	OMIM:256500
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:300894
Graves Disease	Congestive heart failure	OMIM:275000
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Depressed nasal ridge, Decreased skull ossification, Macrocephaly, Frontal bossing,...	OMIM:300863
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:228308
Beckwith-Wiedemann Syndrome	Hearing impairment, Abnormal earlobe morphology, Large fontanelles, Congenital diaphragmatic hern...	ORPHA:116
Limb-Mammary Syndrome	Toe syndactyly, Aplasia of the ovary, Primary amenorrhea, Syndactyly, Alopecia, Sparse eyebrow, C...	ORPHA:69085
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Depressed nasal bridge, Downturned corners of mouth, Failure to thrive, Wi...	OMIM:617865
Pyridoxine-Dependent Epilepsy	Feeding difficulties, Restlessness, Hypoglycemia	ORPHA:3006
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Weight loss, Dyspar...	ORPHA:36426
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Variegate Porphyria, Childhood-Onset	Scarring, Epidermal hyperkeratosis	OMIM:620483
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Bronchiectasis	OMIM:240500
Native American Myopathy	Malignant hyperthermia, Gastroesophageal reflux, Congenital contracture, Skeletal muscle atrophy,...	ORPHA:168572
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	OMIM:212065
Trichohepatoenteric Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Decreased circulating iron concentration, Failure to t...	OMIM:614602
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Proptosis, Coarse metaphyseal trabecularization, Anteverted nares, Hypert...	OMIM:618961
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Icf Syndrome	Low-set ears, Depressed nasal bridge, Abnormality of chromosome stability, Umbilical hernia, Lymp...	ORPHA:2268
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Hyperc...	OMIM:617994
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Cirrhosis, Primary amenorrhea, Hepatomegaly, High palate, Neonatal hypoglycemi...	OMIM:619418
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia, Ileus, Constipation	ORPHA:52503
Rhiny	Thin vermilion border, Anteverted nares, Inguinal hernia, Short nose	OMIM:180360
X-Linked Hypohidrotic Ectodermal Dysplasia	Depressed nasal ridge, Everted upper lip vermilion, Delayed eruption of teeth, Sparse body hair, ...	ORPHA:181
Cornelia De Lange Syndrome	Atresia of the external auditory canal, Elbow dislocation, Micrognathia, Congenital diaphragmatic...	ORPHA:199
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Spastic Paraplegia 46, Autosomal Recessive	Cataract, Urinary incontinence, Infertility, Scoliosis, Kyphosis	OMIM:614409
Fetal Akinesia Deformation Sequence 1	Low-set ears, Micrognathia, Narrow mouth, Hip contracture, Elbow ankylosis, Blepharophimosis, Hyp...	OMIM:208150
Richards-Rundle Syndrome	Distal amyotrophy, Hearing impairment, Joint stiffness, Gait disturbance, Ataxia, Reduced bone mi...	ORPHA:1399
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of the ankle, Corneal scarring, Abnormality of the autonomic nervous system, Abnormal...	ORPHA:642
Arima Syndrome	Ataxia, Postaxial foot polydactyly, Growth delay, Hepatomegaly, Tachypnea, Postaxial hand polydac...	OMIM:243910
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morpho...	ORPHA:47612
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne...	OMIM:221800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Deeply set eye, Epicanthus, Curly hair, Short nose, Sparse eyeb...	ORPHA:500150
Marfan Syndrome	Open bite, Slender build, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Limited elbo...	ORPHA:558
14Q22Q23 Microdeletion Syndrome	Cupped ear, Atresia of the external auditory canal, Hearing impairment, Downturned corners of mou...	ORPHA:264200
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Facial hypertrichosis, Red-brown urine, Purple urine, Increased urinary ...	ORPHA:79277
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Micrognathia, Bell-shaped thorax, Malar flattening, Hirsut...	OMIM:614592
Duane Retraction Syndrome	Hearing impairment, Hypopigmented skin patches, Micrognathia, Sensorineural hearing impairment, L...	ORPHA:233
Fucosidosis	Spasticity, Failure to thrive, Decreased muscle mass, Cardiomegaly, Abnormal pyramidal sign, Hepa...	ORPHA:349
Ulna Hypoplasia-Intellectual Disability Syndrome	Micromelia, Elbow dislocation, Delayed cranial suture closure, Joint stiffness, Large fontanelles...	ORPHA:2249
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Abnormality of skin pigmentation, Spar...	OMIM:616353
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Anodontia, Microdontia, Hypod...	OMIM:129490
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Hemiplegia, Hepatosplenomegaly, Por...	OMIM:615688
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Low anterior hairline, Low posterior hairline, Lumb...	OMIM:609128
Neurofibromatosis Type 1	Hearing impairment, Hypopigmented skin patches, Genu valgum, Multiple lipomas, Leukemia, Genu var...	ORPHA:636
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Alopecia, Cryptorchidism, Cleft palate	OMIM:164180
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Craniofacial hyperostosis, Alopecia, Tricuspid valve prolapse, Multiple li...	ORPHA:2396
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Hypoplasia of the zygomatic bone, Hypopigmented skin patches, Joint stiffness, Genu valg...	ORPHA:1295
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Congenital contracture, Arthrogryposis multiplex congenita, Camptodact...	ORPHA:115
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Skin rash	OMIM:603552
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Tooth agenesis, Fingernail dysplasia, Dry skin, Melanocytic ...	ORPHA:1660
Mucolipidosis Iii Gamma	Pectus carinatum, Joint stiffness, Genu valgum, Claw hand deformity, Short neck, Hyperlordosis, F...	OMIM:252605
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Proptosis, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Erdheim-Chester Disease	Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno...	ORPHA:35687
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis	OMIM:612692
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
X-Linked Intellectual Disability, Seemanova Type	Hypoplasia of the musculature, Skeletal muscle atrophy, Retrognathia, Abnormal heart morphology, ...	ORPHA:85323
Waardenburg Syndrome	Wide nasal bridge, Conductive hearing impairment, Hearing impairment, Abnormal lip morphology, Pr...	ORPHA:3440
Majeed Syndrome	Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei...	ORPHA:77297
Joubert Syndrome 2	Ataxia, Postaxial foot polydactyly, Failure to thrive, Episodic tachypnea, Oculomotor apraxia, Ce...	OMIM:608091
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Glycosuria, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:268315
Optic Atrophy 5	Optic atrophy, Optic disc pallor	OMIM:610708
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Aneurysm-Osteoarthritis Syndrome	Mitral regurgitation, Arachnodactyly, Knee osteoarthritis, High palate, Protrusio acetabuli, Aort...	ORPHA:284984
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Elbow dislocation, Knee dislocation, Joint hypermobility, Advanced ossification of carpal bones, ...	OMIM:620269
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Adrenal calcification, Decreased fertility, Crypt...	ORPHA:289548
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Downturned corners of mouth, Failure to thrive, Underdeveloped nasal alae...	OMIM:300912
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Reticulated skin pigmentat...	ORPHA:50815
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneo...	OMIM:609069
Faciocardiomelic Syndrome	Depressed nasal bridge, Osteopenia, Dental malocclusion, Long philtrum, Hyperplasia of the maxill...	OMIM:612731
Meckel Syndrome, Type 8	Low-set ears, Depressed nasal ridge, Cleft upper lip, Microcephaly, Short nose, Cleft palate	OMIM:613885
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Short stature, Hypoplas...	ORPHA:251066
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Obesity...	OMIM:611936
Alkaptonuria	Aortic valve calcification, Limited hip movement, Thickened Achilles tendon, Intervertebral disk ...	OMIM:203500
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis, Synophrys	ORPHA:505652
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Low-set ears, Postnatal growth retardation, Ventricular septal defect, High palate, Ulnar deviati...	OMIM:620113
Pancreatic Triacylglycerol Lipase Deficiency	Colitis, Weight loss, Keratoconjunctivitis sicca	ORPHA:309031
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Umbilical hernia, Undulate ribs, Inguinal her...	OMIM:618188
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Restrictive Dermopathy	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Decreased skull ossification, Hyperteloris...	ORPHA:1662
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Fanconi Anemia, Complementation Group L	Low-set ears, Wide nasal bridge, Chromosome breakage, Anotia, Depressed nasal tip, Micrognathia, ...	OMIM:614083
Desmoplastic Small Round Cell Tumor	Cachexia, Ileus, Weight loss	ORPHA:83469
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Secundum atrial septal defect, Hearing impairment, Tibial torsion, Postnatal grow...	OMIM:613355
Unilateral Polymicrogyria	Epistaxis, Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Abnormal heart morp...	ORPHA:268943
Adams-Oliver Syndrome 6	Esophageal varix	OMIM:616589
Tarp Syndrome	Hearing impairment, Extramedullary hematopoiesis, Micrognathia, Large fontanelles, Abnormal antih...	ORPHA:2886
Emanuel Syndrome	Aortic valve stenosis, Failure to thrive, Intrauterine growth retardation, Congenital diaphragmat...	OMIM:609029
Darier-White Disease	Ridged nail, Enlargement of parotid gland, Subungual hyperkeratotic fragments, Acrokeratosis, Aca...	OMIM:124200
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Downturned corners of mouth, Umbilical hernia, Bulbous nose, Hypoplastic lac...	OMIM:273390
Oculoskeletodental Syndrome	Abnormality of the dentition, Abnormality of the frontal hairline, Retrognathia, Microdontia, Oli...	ORPHA:557003
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp...	OMIM:616300
X-Linked Intellectual Disability, Miles-Carpenter Type	Hypogonadism, Rocker bottom foot, Skeletal muscle atrophy, Joint hypermobility	ORPHA:85283
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia, Low posterior hai...	ORPHA:2911
Houge-Janssens Syndrome 2	Abnormal hair whorl, Plagiocephaly, Downslanted palpebral fissures, Anteverted nares, Tented uppe...	OMIM:616362
Dend Syndrome	Downturned corners of mouth, Long philtrum, Bilateral ptosis, Anteverted nares, Hypsarrhythmia, T...	ORPHA:79134
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Cataract, Peripheral demyelination, Attenuation of retinal...	OMIM:609033
Zimmermann-Laband Syndrome 2	Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Widow's peak, Syn...	OMIM:616455
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Clubbing, Facial palsy	OMIM:612387
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Arthrogryposis multiplex congenita, Decreased motor nerve conduction vel...	OMIM:618186
Heparin-Induced Thrombocytopenia	Increased serum serotonin, Cerebral ischemia, Pulmonary embolism, Myocardial infarction	ORPHA:3325
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Obesity, Wide mout...	ORPHA:411515
Blepharocheilodontic Syndrome 1	Choanal atresia, High anterior hairline, Conical tooth, Small nail, Cleft upper lip, Nail dysplas...	OMIM:119580
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Hepatomegaly, Gastrointestinal hemorrhage, Hypertrophic cardiom...	OMIM:276700
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Obesi...	ORPHA:174
Genetic Transient Congenital Hypothyroidism	Umbilical hernia, Feeding difficulties, Hypothermia, Constipation, Prolonged neonatal jaundice, M...	ORPHA:226316
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Rickets, Hearing impairment, Failure to thrive, Mottled pigmentation of p...	OMIM:560000
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Decreased testicular size, Nail dystrophy, Cryptorchidism, Spotty hypopigment...	ORPHA:1867
Zika Virus Disease	Ankle swelling, Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy...	ORPHA:448237
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	2-3 toe cutaneous syndactyly, Low-set ears, Retrognathia, Micrognathia, Narrow mouth, Down-slopin...	OMIM:301091
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Growth delay	OMIM:615453
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa...	ORPHA:206436
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Low-set ears, Tracheomalacia, Hearing impairment, Micrognathia, Joint hypermobility, Protruding e...	ORPHA:412069
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Short nose, Hypoplastic fifth fingernail, Tented upper lip ve...	OMIM:614207
Stickler Syndrome, Type I	Platyspondyly, Joint stiffness, Micrognathia, Spondylolisthesis, Malar flattening, Joint hypermob...	OMIM:108300
Silver-Russell Syndrome 2	Downturned corners of mouth, Intrauterine growth retardation, Micrognathia, Short stature, Relati...	OMIM:618905
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:168558
Halperin-Birk Syndrome	Failure to thrive, Pseudobulbar paralysis, Inability to walk, Intrauterine growth retardation, Co...	OMIM:618651
Meester-Loeys Syndrome	Bifid uvula, Joint dislocation, Proptosis, Hypertrichosis, Downslanted palpebral fissures, Striae...	OMIM:300989
3-Methylglutaconic Aciduria, Type Viii	Growth delay, Failure to thrive, Neonatal death, Bradycardia, Jaundice, Neonatal hypoglycemia, Dy...	OMIM:617248
Focal Myositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation, Epiphyseal stip...	OMIM:118650
Alternating Hemiplegia Of Childhood	Failure to thrive, Cardiomyopathy, Abnormal T-wave, Respiratory distress, Tetraparesis, Chorea, A...	ORPHA:2131
Triple A Syndrome	Optic atrophy, Palmoplantar keratoderma, Pes cavus, Motor axonal neuropathy, Abnormal calf muscul...	ORPHA:869
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Macrocephaly, Micrognathia, Median cleft upper lip, Microce...	OMIM:241800
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Mandibular prognathia, Reduced hair sulfur content, Widely spaced primary teeth, ...	OMIM:300953
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Congenital giant melanocytic nevus, Anteverted nares, Open mouth,...	OMIM:137550
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Micrognathia, Narro...	ORPHA:83617
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Erysipelas, Skin rash, Myositis, Conjunctival hyperemia, Oligoarthri...	OMIM:142680
Spondyloenchondrodysplasia	Pneumonia, Dental malocclusion, Hepatitis, Delayed eruption of teeth, Granuloma, Pancytopenia, Vi...	ORPHA:1855
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Osteopenia, Abnormality of the dentition, Rhizomelia, Disproportionate short-limb ...	OMIM:271510
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Distal amyotrophy, Type I diabetes mellitus, Hearing impairment, Difficulty walking, De...	ORPHA:412057
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary nipple, Micrognathia, Inguinal hernia, Joint hypermobility, Supernumerary ribs, Six...	OMIM:619122
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Inguinal hernia, Microdontia, Hypodontia, Sparse hair	ORPHA:1174
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur...	ORPHA:2885
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Osteolysis	ORPHA:391
Norrie Disease	Optic atrophy, Abnormal helix morphology, Failure to thrive, Narrow nasal bridge, Malar flattenin...	ORPHA:649
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Failu...	ORPHA:171876
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Congenital fibrosis of extraocular muscles, Postnatal growth retardation, Inability to walk, Thor...	ORPHA:300570
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology...	ORPHA:457083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Skele...	OMIM:613150
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Waldenström Macroglobulinemia	Gingival bleeding, Normocytic anemia, Epistaxis, Proptosis, Hearing impairment, Leukemia, Vertigo...	ORPHA:33226
Acrogeria	Irregular hyperpigmentation, Skin ulcer, Fine hair, Micrognathia, Excessive wrinkled skin, Joint ...	ORPHA:2500
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Gastroesophageal reflux, Axial muscle weakness, P...	OMIM:616720
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, ...	ORPHA:286
Liposarcoma	Weight loss, Varicose veins	ORPHA:69078
Acrodermatitis Enteropathica	Alopecia, Failure to thrive, Abnormal eyebrow morphology, Pustule, Weight loss, Abnormal eyelid m...	ORPHA:37
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Decreased serum leptin	OMIM:614962
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Diastasis recti, Lactose intolerance, Gait disturbance, Hyperactivity,...	ORPHA:457485
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Rh Deficiency Syndrome	Tachycardia, Tachypnea, Hepatosplenomegaly, Intrauterine growth retardation	ORPHA:71275
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Prominent nasal bridge, Malar flattening, Radioulnar synostosis, Microtia	ORPHA:1788
Hypotrichosis 9	Abnormality of the dentition, Sparse eyebrow, Sparse body hair, Hearing abnormality, Abnormal eye...	OMIM:614237
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Alopecia, Toe syndactyly, Imperforate hymen, Small...	OMIM:100300
Alveolar Echinococcosis	Abnormal vertebral morphology, Biliary cirrhosis, Ectopic calcification, Budd-Chiari syndrome, Ab...	ORPHA:284
Acquired Idiopathic Sideroblastic Anemia	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:75564
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Prominent nose, Hypotelorism, Deeply set eye, Elevated circulatin...	OMIM:185070
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Tricuspid regurgitation, Respiratory distress, Cardiomegaly, Talipes equinovarus, Le...	OMIM:620306
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, ...	OMIM:200980
Genitopalatocardiac Syndrome	Low-set ears, Downturned corners of mouth, Intrauterine growth retardation, Micrognathia, Congeni...	ORPHA:2075
Fatal Familial Insomnia	Constipation, Dysphagia, Abnormal autonomic nervous system physiology, Weight loss	OMIM:600072
Milroy Disease	Cellulitis, Toenail dysplasia, Ankle swelling, Hydrocele testis, Hyperkeratosis	ORPHA:79452
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Congenital hip dislocation, Gastrointestinal hemorrhage, Osteopenia, Disproportionate ...	OMIM:225400
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	EEG with abnormally slow frequencies, Iris hypopigmentation, Cessation of head growth, Hypopigmen...	ORPHA:98794
Frontofacionasal Dysplasia	Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Short nose, Apla...	ORPHA:1791
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Distal muscle weakness, Muscle weakness, Ataxia	OMIM:614879
Papular Xanthoma	Histiocytosis	ORPHA:158008
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hip dislocation, Micrognathia, Multiple joint contractures, Femur fra...	OMIM:618291
Farber Disease	Skeletal muscle atrophy, Short toe, Short finger, Abnormality of the wrist, Abnormality of the ha...	ORPHA:333
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Depressed nasal bridge, Alopecia, Coarse hair, Long philtrum, Anteverted nares, Nail dystrophy, U...	ORPHA:75389
Diencephalic Syndrome	Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Decreased body weight	ORPHA:1672
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Narrow naris, Deeply set eye, Epicanthus, Hypertelorism, High palate, Sparse hair, Short nose, Sh...	OMIM:617157
Retinitis Pigmentosa	Optic atrophy, Keratoconus, Posterior subcapsular cataract, Hyperinsulinemia, Attenuation of reti...	ORPHA:791
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum, Osteoarthritis	ORPHA:166100
Parietal Foramina 1	Parietal foramina, Cleft upper lip, Wormian bones, Macrocephaly, Cleft palate	OMIM:168500
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Highly arched eyebrow, Supernumerary nipple, Delayed cranial suture closure, Obesit...	OMIM:618653
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Sweet Syndrome	Myositis, Dilated cardiomyopathy, Small vessel vasculitis	ORPHA:3243
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Depressed nasal ridge, Eczematoid dermatitis, Sparse body hair, Abn...	ORPHA:1810
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Bron...	OMIM:607594
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp, Scarring	ORPHA:346
Mulchandani-Bhoj-Conlin Syndrome	Severe short stature, Retrognathia, Failure to thrive, Intrauterine growth retardation, Hyperlord...	OMIM:617352
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Micrognathia, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Post...	OMIM:620189
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Carious teeth, Oral leukoplakia, Premature graying of hair, Budd-Chiari syndrome, Ridge...	OMIM:127550
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis...	ORPHA:2908
Cowden Syndrome 5	Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed tongue, Micrognathia...	OMIM:615108
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Hypertrichosis, Oligodontia, Microdontia, Ameloge...	OMIM:601216
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Sprengel anomaly, Abnormal r...	OMIM:118100
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism, Bifid sacrum, Vertebral segmentation...	ORPHA:1756
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Galloway-Mowat Syndrome 4	Short stature, Protruding ear, Tapered finger	OMIM:617730
Image Syndrome	Low-set ears, Micromelia, Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Adrenal ...	ORPHA:85173
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis	OMIM:615506
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Short foot, Abnormal ...	OMIM:269860
Benign Recurrent Intrahepatic Cholestasis	Hepatocellular carcinoma, Chronic diarrhea, Weight loss, Acholic stools	ORPHA:65682
Psoriasis 2	Parakeratosis, Hyperkeratosis	OMIM:602723
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera...	ORPHA:157215
White Forelock With Malformations	White forelock, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spina bifida occulta	ORPHA:2475
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Failure to thrive, Delayed cranial suture closure, Anteverted nares, Mala...	OMIM:613038
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Thrombocytopenia, Abnormal autonomic nervous s...	ORPHA:83601
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Diabetes mellitus	OMIM:613845
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Pituitary adenoma, Increased circulating ACTH level, Hirsutism, Oligomen...	OMIM:219090
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Progressive Supranuclear Palsy	Blepharospasm, Falls, Tremor, Rigidity, Supranuclear ophthalmoplegia, Unsteady gait, Bradykinesia	ORPHA:683
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hypoglycemia	ORPHA:364
Glutaric Acidemia I	Glutaric aciduria, Ketonuria, Failure to thrive, Hypoglycemia, Choreoathetosis	OMIM:231670
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit...	ORPHA:364055
Kallmann Syndrome	Decreased fertility, Cryptorchidism, Sensorineural hearing impairment, Primary amenorrhea, Ataxia...	ORPHA:478
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Downslanted palpebral fissures, ...	OMIM:122880
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Narrow naris, Narrow mouth, Reduced subcutaneous adipose tissue, Decreased body wei...	OMIM:617402
Burn-Mckeown Syndrome	Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Ab...	ORPHA:1200
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Long philtrum, Aspira...	OMIM:616430
Hartnup Disorder	Glossitis	OMIM:234500
Tatton-Brown-Rahman Syndrome	Umbilical hernia, Obesity, Cryptorchidism, Proportionate short stature, Kyphoscoliosis, Myeloid l...	ORPHA:404443
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Cataract, Positional foot deformity, Micrognathia, Peripheral axonal neuropathy, C...	ORPHA:496790
Distal Deletion 15Q	Low-set ears, Small hand, Small nail, Hearing impairment, Postnatal growth retardation, Genu valg...	ORPHA:1596
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Cataract, Chorioretinal coloboma, Micrognathia, Optic nerve hypoplasia	ORPHA:163937
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Abnormal T-w...	OMIM:241080
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Joint dislocation, Camptodactyly of finger, Submucous cleft hard palate, Low...	ORPHA:3201
Adult Syndrome	Abnormality of the dentition, Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypop...	ORPHA:978
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Hearing impairment, ...	OMIM:620114
Bone Marrow Failure Syndrome 5	Testicular atrophy, Growth delay, Short stature, Hypogonadism	OMIM:618165
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss	OMIM:180300
Kleefstra Syndrome 2	Thick eyebrow, Scoliosis, Kyphosis	OMIM:617768
Wieacker-Wolff Syndrome, Female-Restricted	Hip dislocation, Microretrognathia, Narrow chest, Hip contracture, Limited shoulder movement, Sho...	OMIM:301041
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Increased c...	ORPHA:97287
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Lumbar kyphoscoliosis, Ataxia, Growth delay, Choreoathetosis	OMIM:619422
Deeah Syndrome	Narrow mouth, Cryptorchidism, Decreased circulating free T3, Decreased body weight, Low posterior...	OMIM:619004
Rhombencephalosynapsis	Microretrognathia, Low-set, posteriorly rotated ears, Macrocephaly, Anteverted nares, Narrow mout...	ORPHA:59315
Thauvin-Robinet-Faivre Syndrome	Tall stature, Long hallux, Inguinal hernia, Mitral valve prolapse, Ventricular septal defect, Sen...	OMIM:617107
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p...	OMIM:178600
Seckel Syndrome	Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, Cachexia, Craniosynostosis,...	ORPHA:808
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen...	OMIM:613239
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Platyspondyly, Disproportionate short-limb short stature, Centra...	OMIM:602557
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Atrophic scars, Nail dystrophy, Oral mucosal blisters, Scarring alopecia of sca...	ORPHA:79402
Kury-Isidor Syndrome	Alopecia, Long philtrum, Hypertrichosis, Widely spaced teeth, Tented upper lip vermilion, Triangu...	OMIM:619762
Waisman Syndrome	Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo...	OMIM:311510
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Postnatal growth retardation, Cleft soft palate, Micrognathia, Ventr...	OMIM:117650
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Retinitis Pigmentosa 12	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:600105
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Hearing impairment, Ventricu...	OMIM:619534
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Failure to thrive	OMIM:602722
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Postnatal gro...	ORPHA:531151
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Cholelithiasis, Lower limb muscle weakness, Pseudobulbar paralysis, Difficu...	OMIM:213700
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Clitoral hypertrophy, Ileal atresia, Long philtrum, G...	OMIM:618820
Glycogen Storage Disease Vii	Increased variability in muscle fiber diameter, Cholelithiasis, Increased total bilirubin, Hyperu...	OMIM:232800
Chromosome Xq27.3-Q28 Duplication Syndrome	Small hand, Sparse body hair, Hypogonadism, Decreased testicular size, Intrauterine growth retard...	OMIM:300869
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	OMIM:618527
Surfactant Metabolism Dysfunction, Pulmonary, 3	Failure to thrive, Respiratory distress, Apnea, Tachypnea, Exertional dyspnea, Dyspnea, Clubbing	OMIM:610921
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Increased circulating prolactin concentration, Cryptorchidism, Ventricular sept...	ORPHA:438213
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Whipple Disease	Insulin resistance, Splenomegaly, Hyponatremia, Cachexia, Hepatomegaly	ORPHA:3452
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Micrognathia, Short nose,...	OMIM:256600
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Recurrent pneumonia, Prominent eyelashes, Failure to thrive, Long philtrum, Tr...	OMIM:619179
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Cardiomyopathy, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, H...	ORPHA:445038
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hypopigmentation of the skin, Abnormal dental morphology, Hypophosphatemic ...	OMIM:163200
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Aplasia/Hypoplasia involving the nose, Micrognathia, Narrow mouth, Orofacial cleft...	ORPHA:3301
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Generalized hir...	OMIM:612949
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia	ORPHA:2158
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Intrauterine growth retardation, Cerebral calcification, Primary microcephaly,...	ORPHA:89844
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Intractable diarrhea, Congenital pyloric atresia, Esophageal ...	OMIM:226730
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Flat occiput, Downslanted palpebral fissures, Bicoronal synostosis, ...	OMIM:618736
Meconium Aspiration Syndrome	Intrauterine growth retardation, Pulmonary arterial hypertension, Maternal diabetes, Abnormal hea...	ORPHA:70588
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Ventricular sept...	OMIM:181450
Optic Pathway Glioma	Vertigo, Optic atrophy, Papilledema, Proptosis	ORPHA:2086
Recessive Dystrophic Epidermolysis Bullosa Inversa	Palmoplantar blistering, Mitten deformity, Corneal erosion	ORPHA:79409
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Skin rash, Arthritis, Uveitis	OMIM:120100
Eem Syndrome	Carious teeth, Selective tooth agenesis, Sparse body hair, Widely spaced teeth, Abnormal dental m...	ORPHA:1897
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Atresia of the external...	OMIM:154400
Juvenile Polyposis Syndrome	Low-set ears, Clubbing of fingers, Colon cancer, Stomach cancer, Narrow mouth, Juvenile gastroint...	ORPHA:2929
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia	ORPHA:664
Alg12-Cdg	Failure to thrive, Recurrent hypoglycemia, Intrauterine growth retardation, Micrognathia, Cryptor...	ORPHA:79324
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Flat glenoid fossa, Irregular chondrocostal junctions, Lumbar hyperlordosis, Genu valgum, Obesity...	OMIM:250420
Wiskott-Aldrich Syndrome	Nephropathy, Vasculitis, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid ...	ORPHA:906
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Colonic diverticula, Diarrhea, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynop...	OMIM:147060
Porphyria, Congenital Erythropoietic	Thickened skin, Alopecia, Hypopigmentation of the skin, Joint contracture of the hand, Osteopenia...	OMIM:263700
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Medial flaring of the eyebrow, Downturned corners of mouth, Dental crowding, Failu...	OMIM:617602
Xeroderma Pigmentosum	Abnormality of the dentition, Alopecia, Thickened skin, Craniofacial hyperostosis, Hypopigmented ...	ORPHA:910
Branchiogenic-Deafness Syndrome	Atresia of the external auditory canal, Submucous cleft hard palate, Sensorineural hearing impair...	OMIM:609166
Glycogen Storage Disease Ib	Hypoglycemia, Gout, Splenomegaly, Oral ulcer, Delayed puberty, Pancreatitis, Neutropenia, Pancrea...	OMIM:232220
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Humeroradial Synostosis	Wide nasal bridge, Humeroradial synostosis, Brachycephaly, Small earlobe, Microtia	OMIM:236400
Cowden Syndrome 6	Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed tongue, Micrognathia...	OMIM:615109
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failure to thrive, Ch...	OMIM:615486
Cerebrotendinous Xanthomatosis	Osteopenia, Tendon xanthomatosis, Distal amyotrophy, Cholelithiasis, Abnormal auditory evoked pot...	ORPHA:909
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Short 1st metacarpal, Atrioventricular canal defect, Postnatal growth reta...	OMIM:619135
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Increased circulating cortisol level, Pigmented micronodular adrenocortical...	OMIM:610475
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300009
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Hepatome...	ORPHA:470
Acute Intermittent Porphyria	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Diarrhea, Weakn...	ORPHA:79276
Bor Syndrome	Atresia of the external auditory canal, Hearing impairment, Retrognathia, Enlarged cochlear aqued...	ORPHA:107
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Dispropo...	ORPHA:85166
Aica-Ribosiduria Due To Atic Deficiency	Low-set ears, Optic atrophy, Frontal bossing, Anteverted nares, Prominent nasal bridge, Thin uppe...	OMIM:608688
Holoprosencephaly 13, X-Linked	Low-set ears, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Median cleft palate, Subm...	OMIM:301043
Pancreatic insufficiency, combined exocrine	Anasarca, Congestive heart failure	OMIM:260450
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Failure to thrive, Difficulty walking, Limb hypertonia, Ataxia, Short stature, Uns...	ORPHA:442835
Glycogen Storage Disease Xii	Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubinemia, Cholecystitis...	OMIM:611881
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ...	OMIM:241310
Occipital Horn Syndrome	Coarse hair, Long philtrum, Broad ribs, Genu valgum, Limited elbow extension, High palate, Short ...	OMIM:304150
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Broad ribs, Persistence of primary teeth, Mult...	OMIM:600002
3Mc Syndrome	Low-set ears, Highly arched eyebrow, Caudal appendage, Downturned corners of mouth, Hearing impai...	ORPHA:293843
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Pulmonary arterial hypertension	ORPHA:1164
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Small scrotum, Low-set ears, Toe syndactyly, Finger syndactyly, Hear...	OMIM:607932
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Elbow dislocation, Long philtrum, Frontal bossing, Micrognathia, Malar fl...	ORPHA:93328
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Septo-Optic Dysplasia Spectrum	Obesity, Tracheoesophageal fistula, Constipation, Esophageal atresia, Septo-optic dysplasia, Clef...	ORPHA:3157
Acrocapitofemoral Dysplasia	Hyperlordosis, Macrocephaly, Short stature, Scoliosis, Ovoid vertebral bodies	ORPHA:63446
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Chronic sinusitis, Cardiomegaly, Perimembranous ven...	OMIM:620642
Neuroocular Syndrome 1	Low-set ears, Hooded upper eyelid, Small nail, Ankyloglossia, Deeply set eye, Torus palatinus, Br...	OMIM:619539
Ramon Syndrome	Pigmentary retinopathy, Delayed eruption of teeth, Hypertrichosis, Juvenile rheumatoid arthritis,...	OMIM:266270
Dural Sinus Malformation	Proptosis, Ear pain, Chemosis, Papilledema, Macrocephaly, Pulsatile tinnitus	ORPHA:97339
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Carious teeth, Epicanthus, Chordee, Narrow palpebral fissure, Hypertelorism, Long n...	OMIM:619522
Axenfeld-Rieger Syndrome, Type 3	Proptosis, Malar flattening, Microdontia, Sensorineural hearing impairment, Hypodontia, Hypertelo...	OMIM:602482
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Sensorineural hearing impairment, Orofacial cleft, Femoral retr...	ORPHA:79107
Ectodermal Dysplasia 13, Hair/Tooth Type	Wide nasal bridge, Depressed nasal bridge, Downslanted palpebral fissures, Thin eyebrow, Brittle ...	OMIM:617392
Peho Syndrome	Optic atrophy, Undetectable visual evoked potentials, Retrognathia, Tented upper lip vermilion, O...	OMIM:260565
Phaver Syndrome	Abnormal form of the vertebral bodies, Short thumb, Camptodactyly of finger, Pterygium, Joint sti...	ORPHA:2876
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Limb-girdle muscular dystrophy, Type I diabetes mellitus, Hypochole...	ORPHA:96180
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Rheumatoid arthritis, Lymphopenia, Cerebral calcification, Sclerosis of skull base...	OMIM:607944
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Corneal erosion, Optic disc coloboma	OMIM:270420
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to...	OMIM:606324
Methimazole Embryofetopathy	Tracheoesophageal fistula, Esophageal atresia	ORPHA:1923
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hypoplasia of the ...	ORPHA:1826
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Congestive heart failure, Tricuspid regurgitation, ...	ORPHA:508542
Poland Syndrome	Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, Hemivertebrae	OMIM:173800
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Cheilitis, Abnormality of ...	ORPHA:129
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Small nail, Ichthyosis, Inguinal hernia, Cryptorchidism, Absent eyelashes, Absent eyebr...	ORPHA:166035
Fibrodysplasia Ossificans Progressiva	Alopecia, Widely spaced teeth, Ectopic ossification in ligament tissue, Progressive cervical vert...	OMIM:135100
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness...	ORPHA:199351
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Cachexia, Chronic diarrhea, Duodenal ulcer	ORPHA:3217
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpi...	ORPHA:100080
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Abnormal rib morphology	ORPHA:2643
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Kyphosis, Increased circu...	OMIM:610489
Pelvic Organ Prolapse, Susceptibility To	Bowel incontinence, Rectal prolapse	OMIM:176780
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Abnormal hair morphology, Cryptorchidism, Abnormal nasolacrimal sy...	ORPHA:2273
Congenital Sialidosis Type 2	Spasticity, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Myoclonus, Dysmetria, Po...	ORPHA:93400
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Low posterior hairline, Curly hair, Split nail, Hypertelorism, C...	OMIM:304110
Refractory Celiac Disease	Protein-losing enteropathy, Jejunitis, Villous atrophy, Weight loss, Chronic diarrhea	ORPHA:398063
Cowden Syndrome 1	Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed tongue, Lymphopenia,...	OMIM:158350
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Wide mouth, Microtia	OMIM:251800
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental ...	ORPHA:2916
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Small nail, Hepatosplenomegaly, Micr...	OMIM:614866
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Muscle fiber atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Incre...	ORPHA:228302
6Q Terminal Deletion Syndrome	High, narrow palate, Highly arched eyebrow, Short palpebral fissure, Plagiocephaly, Failure to th...	ORPHA:75857
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Low-set ears, Small bowel diverticula, Congestive heart failure...	ORPHA:90348
Hunter-Macdonald Syndrome	Joint contracture of the hand, Short palpebral fissure, Conductive hearing impairment, Delayed cr...	OMIM:611962
W Syndrome	Abnormality of the scalp hair, Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dis...	ORPHA:2804
Yellow Fever	Diarrhea, Vomiting, Pancreatic hyperplasia, Fever, Shock, Elevated circulating creatinine concent...	ORPHA:99829
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu...	OMIM:210250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limi...	OMIM:608728
Postaxial Acrofacial Dysostosis	Low-set ears, Supernumerary nipple, Postnatal growth retardation, Micrognathia, Cryptorchidism, R...	OMIM:263750
Acrocephalopolydactylous Dysplasia	Low-set ears, Polysplenia, Oxycephaly, Upslanted palpebral fissure, Epicanthus, Omphalocele, Hype...	OMIM:200995
Chronic Mucocutaneous Candidiasis	Abnormal lip morphology, Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnor...	ORPHA:1334
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D...	ORPHA:90349
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Inguinal hernia	OMIM:620014
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Otodental Syndrome	Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo...	ORPHA:2791
Jacobsen Syndrome	Aplasia/Hypoplasia of the earlobes, Epicanthus, Hypertelorism, Hip dislocation, Short nose, Eczem...	ORPHA:2308
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Lumbar hyperlordosis, Short stature, Mandibular pro...	OMIM:165800
Holocarboxylase Synthetase Deficiency	Hyperventilation, Tachypnea, Lethargy, Hypertonia	OMIM:253270
Congenital Pancreatic Cyst	Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice	ORPHA:313906
Dermatomyositis	Cellulitis, Arrhythmia, Dysphagia, Abnormality of the nail, Vasculitis, Alopecia, Myositis, Myoca...	ORPHA:221
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Breast aplasia, Underdeveloped tragus, P...	ORPHA:2036
Neurofaciodigitorenal Syndrome	Low-set ears, Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Plagiocephaly, Atres...	ORPHA:2673
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Hearing impairment, Failure to thrive, Micrognathia, Enterocolitis	OMIM:301108
Ovarian Dysgenesis 3	Female infertility, Aplasia of the ovary, Primary amenorrhea	OMIM:614324
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Small nail, Decreased testicular size, Nail dystrophy, Orthokeratotic h...	OMIM:610644
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Xerostomia, Skeletal muscle atrophy, Amyotrophic lateral scl...	ORPHA:803
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abnormality of connective tissue, Abdominal aortic aneurysm, Carotid artery...	ORPHA:91387
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Myoectodermal Gonadal Dysgenesis Syndrome	Low-set ears, Dry skin, Frontal upsweep of hair, Sensorineural hearing impairment, Epicanthus, Ab...	OMIM:618419
1P21.3 Microdeletion Syndrome	Broad nasal tip, Long ear, Obesity, Micrognathia, Upslanted palpebral fissure, Deeply set eye, Jo...	ORPHA:293948
Down Syndrome	Shallow acetabular fossae, Conductive hearing impairment, Brushfield spots, Malar flattening, Pro...	OMIM:190685
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Rhabdomyolysis, Goiter	OMIM:188580
Alpha-Heavy Chain Disease	Alopecia, Abnormal small intestine morphology	ORPHA:100025
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Maple Syrup Urine Disease, Type Ia	Hypoglycemia, Increased level of hippuric acid in urine, Positive 2,4-dinitrophenylhydrazine urin...	OMIM:248600
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Pallister-Hall Syndrome	Choanal atresia, Depressed nasal bridge, Microglossia, Natal tooth, Atresia of the external audit...	OMIM:146510
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Shoulder girdle muscle weakness, Slender build, Myopathy, Hyperlordosis, Pelvic girdle muscle wea...	OMIM:615156
Crisponi/Cold-Induced Sweating Syndrome 1	Elbow flexion contracture, Kyphoscoliosis, Short neck, Camptodactyly, Facial palsy	OMIM:272430
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Fine hair, Talipes valgus, Failure to thrive in infancy, Narrow nose, Submucous cleft hard palate...	OMIM:618891
Spinocerebellar Ataxia Type 3	Abnormal vestibular function, Proptosis	ORPHA:98757
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Pectus carinatum, Scoliosis, Mandibular prognathia, Kyphosis, Hyperextensibility...	OMIM:609008
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:86893
Sotos Syndrome	High, narrow palate, Sparse eyebrow, High anterior hairline, Scoliosis, Macrocephaly, Glucose int...	OMIM:117550
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop...	ORPHA:435387
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Vasculitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritoniti...	ORPHA:32960
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Broad thumb, Hypoglycemia, Umbilical hernia, Feeding difficulties, Talipes...	OMIM:614501
Osteootohepatoenteric Syndrome	Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Weight...	OMIM:619377
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ...	OMIM:256700
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Tyrosinemia Type 2	Hyperhidrosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperkeratosis	ORPHA:28378
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Skin rash, Myositis, Lipodystrophy, Arthritis, Sinusitis, Conjunctivitis, Flex...	OMIM:617591
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Posterior plagiocephaly, Epicanthus, Prominent nasal tip, Narrow palpebral fissure, High palate, ...	OMIM:620330
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Fucosidosis	Failure to thrive, Hemiplegia, Splenomegaly, Cardiomegaly, Hepatomegaly, Coxa valga, Spastic gait...	OMIM:230000
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal...	ORPHA:2759
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Inguinal hernia, Kyphoscoliosis, Left ventricular hypertrophy, Thoracolumbar scol...	ORPHA:230851
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Elbow flexion contracture, Micrognathia, Knee flexion contracture, Hip contracture, S...	ORPHA:371364
Neu-Laxova Syndrome 1	Low-set ears, Depressed nasal ridge, Joint contracture of the hand, Yellow subcutaneous tissue co...	OMIM:256520
Pallister-Hall Syndrome	Auricular tag, Atresia of the external auditory canal, Natal tooth, Radial head subluxation, Hype...	ORPHA:672
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Parkinsonism, Gait distu...	OMIM:168601
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmenta...	ORPHA:33445
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Giant Cell Arteritis	Vasculitis, Alopecia, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmona...	ORPHA:397
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Congenital Primary Megaureter	Abnormal penis morphology, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Congenital meg...	ORPHA:617
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Long phil...	OMIM:607330
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Cleft soft palate, Esophageal atresia	OMIM:614526
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit...	OMIM:106300
Immunodeficiency 10	Hypoglycemia, Recurrent urinary tract infections, Myopathy, Amelogenesis imperfecta, Nephrotic sy...	OMIM:612783
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Disproportionate short stature, Lymphopenia, Hepatic cysts...	OMIM:617425
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia, Hypophosphatemia	ORPHA:89937
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Satoyoshi Syndrome	Alopecia universalis, Abnormal hair morphology, Abnormality of the ovary, Sparse or absent eyelas...	ORPHA:3130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture	OMIM:613154
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Lumbar hyperlordos...	ORPHA:313892
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Rhizomelia, Joint dislocation, Thoracic hypoplasia, Thorac...	OMIM:618019
Waardenburg Syndrome, Type 2A	Wide nasal bridge, Underdeveloped nasal alae, Premature graying of hair, Partial albinism, White ...	OMIM:193510
Polycythemia Vera	Gingival bleeding, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Po...	ORPHA:729
Cerebellar Ataxia-Hypogonadism Syndrome	Supernumerary nipple, Hypogonadism, Decreased fertility, Hypogonadotropic hypogonadism, Ataxia, S...	ORPHA:1173
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato...	OMIM:616263
Xeroderma Pigmentosum, Complementation Group F	Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid...	OMIM:278760
5Q14.3 Microdeletion Syndrome	Anteverted nares, Thick eyebrow, Open mouth, Upslanted palpebral fissure, Deeply set eye, Short p...	ORPHA:228384
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gas...	OMIM:174900
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Moebius Syndrome	Finger syndactyly, Hearing impairment, Micrognathia, Open mouth, Aplasia/Hypoplasia of the thumb,...	ORPHA:570
Malan Syndrome	Retrognathia, Downslanted palpebral fissures, Gingival overgrowth, Narrow mouth, Hyperplasia of t...	OMIM:614753
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches...	ORPHA:3214
Faciocardiorenal Syndrome	Endocardial fibroelastosis, Narrow mouth, Protruding ear, Tricuspid valve prolapse, Hypodontia, S...	ORPHA:1973
Systemic Lupus Erythematosus 17	Alopecia, Oral ulcer	OMIM:301080
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Craniofacial osteosclerosis, Increased...	OMIM:618476
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp...	OMIM:300967
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Failure to thrive, Tet...	OMIM:600001
Immunodeficiency 31C	Osteopenia, Skeletal muscle atrophy, Growth delay, Lymphopenia, Osteomyelitis, Autoimmune hemolyt...	OMIM:614162
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Increased variability in muscle fiber diameter, Highly arched eyebrow, Type 2 muscle fiber predom...	OMIM:619173
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrioventricular block, Disproportionate short stature, Rhizomelic arm shortening, Metaphyseal ch...	ORPHA:93317
Atelosteogenesis, Type Ii	Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Micrognathia, Malar flattening, Increased...	OMIM:256050
Basilicata-Akhtar Syndrome	Precocious puberty, Downturned corners of mouth, Retrognathia, Tented upper lip vermilion, Smooth...	OMIM:301032
Traboulsi Syndrome	Bifid uvula, Dental malocclusion, Retrognathia, Downslanted palpebral fissures, Prominent nose, P...	OMIM:601552
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Kyphosis, Recurrent fractures	ORPHA:85193
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Elbow dislocation, Knee dislocation, Micrognat...	OMIM:108721
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly,...	OMIM:263520
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Diarrhea, Fever, Hypoglycemia, Elevated circulatin...	OMIM:246450
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Widely spaced teet...	ORPHA:411511
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Absent eyelashes, Microcephaly, Absent eyebrow, Convex nasal ridge, Short nose	OMIM:200130
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Cleft lip, Hypoglycemia, Umbilical hernia, Macrocephaly, Hepa...	OMIM:301066
Christian Syndrome	Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Prom...	OMIM:309620
Loeys-Dietz Syndrome 3	Intervertebral disk degeneration, Knee osteoarthritis, Eosinophilic infiltration of the esophagus...	OMIM:613795
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Tachypnea, Hypoglycemia	OMIM:615751
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Micrognathia, Bell-shaped thorax, Short neck, Anterior rib cu...	OMIM:271665
Thrombocytopenia 6	Hypotelorism, Spontaneous, recurrent epistaxis, Deeply set eye, Thrombocytopenia, Osteoporosis, M...	OMIM:616937
Cogan Syndrome	Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Episcleritis, Scleritis, In...	ORPHA:1467
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Orthostatic hypotension, Corneal ...	ORPHA:1764
Pfapa Syndrome	Splenomegaly, Abnormal oral cavity morphology, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly	ORPHA:42642
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Intestinal malrotation, Microcolon, Abnormality of the gastrointestinal tract, Hypoperistalsis	ORPHA:2241
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Fryns-Smeets-Thiry Syndrome	Micrognathia, Patellar aplasia, Joint hypermobility, Cachexia, Scoliosis, Hip dislocation	ORPHA:2058
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Tach...	ORPHA:98849
Spondyloocular Syndrome	Low-set ears, Abnormality of the dentition, Osteopenia, Overlapping toe, Mitral valve prolapse, S...	OMIM:605822
Dyskeratosis Congenita, X-Linked	Alopecia, Carious teeth, Oral leukoplakia, Premature graying of hair, Decreased testicular size, ...	OMIM:305000
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Severe short stature, Abnormality of the vertebral column, Kyphoscoliosis, Disprop...	ORPHA:93316
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Neutropenia	ORPHA:90023
Tetrasomy 15Q26	Camptodactyly, Intrauterine growth retardation, Kyphoscoliosis	OMIM:614846
Lymphoid Interstitial Pneumonia	Cor pulmonale, Aortic valve stenosis, Clubbing	OMIM:247610
Central Diabetes Insipidus	Weight loss, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Miller-Dieker Syndrome	Abnormal upper lip morphology, Anteverted nares, Epicanthus, EEG abnormality, Omphalocele, Short ...	ORPHA:531
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurg...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurg...	ORPHA:100082
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Dpagt1-Cdg	Thickened skin, Clinodactyly, Hearing impairment, Hypertrichosis, Inability to walk, Akinesia, In...	ORPHA:86309
Amyloidosis, Finnish Type	Cardiac amyloidosis, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy	OMIM:105120
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti...	OMIM:301074
Familial Cold Urticaria	Conjunctivitis, Arthritis	ORPHA:47045
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Failure to thrive	OMIM:211600
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria, Ragged-red muscle fibers	OMIM:550500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Joint stiffness, Scoliosis, Mild short stature, Lumbar hyperlordosis	OMIM:618167
Stiff-Person Syndrome	Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Lumbar hyperlordosis, Hypertens...	OMIM:184850
Thymic Carcinoma	Abnormal vena cava morphology, Weight loss	ORPHA:99868
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Macroglossia, Short fourth metatarsal, Inability to walk, Multipl...	OMIM:618143
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, O...	ORPHA:39812
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Facial paralysis	OMIM:605711
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Myopathy, Ophthalmoplegia, Central apnea, Delayed pu...	ORPHA:3463
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Esophageal varix	OMIM:620367
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi...	ORPHA:91416
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Weight loss	ORPHA:33276
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Elevated circulating hepatic transaminase concentration, Polydipsia, Fev...	ORPHA:293987
Pituitary Apoplexy	Hypotension, Impotence, Pituitary adenoma, Increased circulating cortisol level, Increased circul...	ORPHA:95613
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N...	OMIM:620107
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Elevated circulating calcitonin concentration, Thick lower lip vermilion, Fa...	OMIM:162300
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Congestive heart failure, Polyhydramnios, Flexion contracture, Dehydration	OMIM:616271
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Failure to thrive...	ORPHA:476126
Congenital Diaphragmatic Hernia	Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Ferguson-Bonni Neurodevelopmental Syndrome	Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale	OMIM:619699
Chitayat Syndrome	Depressed nasal bridge, Proptosis, Tracheomalacia, Anteverted nares, Thick vermilion border, Shor...	OMIM:617180
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Spasticity, Clonus, Tetraplegia	ORPHA:3137
Congenital Sucrase-Isomaltase Deficiency	Gastroesophageal reflux, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Nausea, Constipa...	ORPHA:35122
Congenital Tracheomalacia	Gastroesophageal reflux, Tracheomalacia, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:95430
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Mitral valve prolapse, Arachnodactyly, Bicuspid aort...	OMIM:610168
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abnormality of the...	ORPHA:400
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas, Inability to walk, Intrauterine growth retardation, Gait imbalance, Knee flexio...	ORPHA:488642
Prune Belly Syndrome	Congenital hip dislocation, Failure to thrive, Vertebral segmentation defect, Abnormal rib morpho...	ORPHA:2970
Congenital Fibrinogen Deficiency	Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage	ORPHA:335
4Q21 Microdeletion Syndrome	Small hand, Micromelia, Long eyelashes, Large fontanelles, Generalized hirsutism, Short neck, Sho...	ORPHA:238750
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Salmonella osteomyelitis, Lymphadeno...	OMIM:209950
Restrictive Dermopathy 1	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Absent eyelashes, Atrial...	OMIM:275210
Cowden Syndrome	Follicular thyroid carcinoma, Hearing impairment, Adenoma sebaceum, Ataxia, High palate, Colorect...	ORPHA:201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Optic atrophy, Optic nerve hypoplasia, Congenital contracture, Atresia of the exter...	OMIM:236670
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Hypoplastic tricuspid valve, Failure to thrive, Con...	ORPHA:2255
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Alopecia, Osteomyelitis, Joint hypermobility, High palate	OMIM:618282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Frontal balding, Decreased fertility, Weight loss, Neonatal hypoglycemia, A...	ORPHA:90794
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Kyphoscoliosis	ORPHA:96190
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Sparse pubic hair, Atypical scarring of skin, Dystrophic toenail, Atrophic, p...	ORPHA:251393
Cherubism	Dental malocclusion, Proptosis, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, ...	OMIM:118400
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Recurrent otitis media, Deeply set eye, Low posterior hairline, Disl...	OMIM:136140
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Atrophic scars, Vesicoureteral reflux, Quadricuspid aortic valve, Mitr...	OMIM:606408
Fanconi Anemia, Complementation Group Q	Esophageal atresia, Anteriorly placed anus	OMIM:615272
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Hearing impairment, Lacrimal gland hyp...	OMIM:149730
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Scapular muscle a...	OMIM:181405
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Epicanthus, Omph...	ORPHA:1906
Alström Syndrome	Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hyperinsulinemia, T...	ORPHA:64
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hypertonia, Bradykin...	OMIM:610217
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Abnormality of retinal pigmentation	ORPHA:2743
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ...	OMIM:614700
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ...	OMIM:614195
Monosomy 13Q14	Low-set ears, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Protruding ear, A...	ORPHA:1587
Acrocallosal Syndrome	Triphalangeal thumb, Congenital diaphragmatic hernia, Postaxial hand polydactyly	ORPHA:36
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Sensory axonal neuropathy, Absent Achilles reflex, Pes cavus, Motor axonal neuropa...	OMIM:609541
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina...	ORPHA:466768
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Pearson Syndrome	Pigmentary retinopathy, Hearing impairment, Hypomagnesemia, Pancytopenia, Median cleft palate, Re...	ORPHA:699
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,...	OMIM:607398
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set ears, Tooth malposition, Wide nasal base, Flared nostrils, Limitation of joint mobility, ...	ORPHA:480880
Gracile Bone Dysplasia	Failure to thrive, Ankyloglossia, Decreased skull ossification, Short stature, Asplenia, Hypoplas...	OMIM:602361
3Mc Syndrome 1	Lambdoidal craniosynostosis, Caudal appendage, Hearing impairment, Supernumerary nipple, Postnata...	OMIM:257920
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Adrenocorticotropin deficient adrenal insufficiency, Failure ...	ORPHA:293978
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Hearing impairment, Ataxia, Foot polydactyly, High palate, Short foot...	OMIM:209900
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Igg4-Related Ophthalmic Disease	Abnormality of the sphenoid sinus, Prostatitis, Abnormal lacrimal gland morphology, Abnormality o...	ORPHA:449563
Congenital Myopathy 13	Skeletal muscle atrophy, Cryptorchidism, Kyphoscoliosis, Weakness of facial musculature, Fatty re...	OMIM:255995
Sandifer Syndrome	Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Torticollis...	ORPHA:71272
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Achalasia, Dysphagia, Esophageal stenosis, Orthostatic hypotension	OMIM:615510
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Severe short stature, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:601186
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Oligohydramnios, Situ...	OMIM:615415
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Hypoplastic toenails,...	ORPHA:2835
Mast Cell Sarcoma	Mastocytosis, Hypoplasia of the ear cartilage, Weight loss, Splenomegaly	ORPHA:66661
African Trypanosomiasis	Difficulty walking, Hepatosplenomegaly, Hemiparesis, Arrhythmia, Weight loss, Hepatomegaly, Chore...	ORPHA:3385
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Dextrocardia	OMIM:106700
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Conical tooth, Diastema, Genu valgum, Nail dysplasia, Overhanging nasa...	OMIM:619142
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal vagina morphology, Renal insuff...	ORPHA:537
Odontochondrodysplasia	Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Joint...	ORPHA:166272
Nijmegen Breakage Syndrome	Acute leukemia, Abnormal hair morphology, Cachexia, Non-midline cleft of the upper lip, Macrotia,...	ORPHA:647
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Aspergillosis	Abnormal esophagus morphology	ORPHA:1163
Björnstad Syndrome	Hypogonadism, Alopecia, Brittle hair, Sensorineural hearing impairment	ORPHA:123
Bloom Syndrome	Pneumonia, Azoospermia, Otitis media, Skin rash, Sparse eyelashes, Adipose tissue loss, Telangiec...	ORPHA:125
Hardikar Syndrome	Cleft soft palate, Ventricular septal defect, Bilateral cleft palate, Impaired growth-hormone res...	OMIM:301068
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Unexplained fevers, Alopecia, Dilated cardiomyopathy, Vomiting, Fa...	ORPHA:79404
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Large fontanelles, Increased connective tissue, Multiple p...	ORPHA:171430
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo...	OMIM:618187
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive	OMIM:611590
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma	ORPHA:64743
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r...	OMIM:604116
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Ichthyosis, Bilateral cryptorchidism	OMIM:618840
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Supranuclear Palsy, Progressive, 2	Falls, Akinesia, Gait imbalance, Retrocollis, Postural tremor, Rigidity, Parkinsonism, Bradykines...	OMIM:609454
Familial Benign Chronic Pemphigus	Acantholysis, Hyperkeratosis	ORPHA:2841
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Chondrocalcinosis, Portal fibrosis, Glycosuria, A...	OMIM:277900
Asbestos Intoxication	Cor pulmonale, Right ventricular failure, Clubbing of fingers, Exertional dyspnea, Hepatojugular ...	ORPHA:2302
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Absent...	OMIM:607823
Thoracomelic Dysplasia	Disproportionate short-limb short stature, Joint hypermobility, Low posterior hairline, Short nec...	ORPHA:1803
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Few cafe-au-lait spots, Protruding tongue, Submucous cleft hard palate, Joint hy...	OMIM:618106
Radiation Proctitis	Hematochezia, Diarrhea, Abnormal rectum morphology, Intestinal obstruction, Constipation, Rectal ...	ORPHA:70475
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis	OMIM:619273
Sickle Cell Anemia	Cholelithiasis, Pigment gallstones, Priapism, Osteomyelitis, Ischemic stroke, Pulmonary arterial ...	ORPHA:232
Myasthenic Syndrome, Congenital, 16	High palate, Hyperlordosis	OMIM:614198
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Depressed nasal bridge, Sparse eyebrow, Conical tooth, Everted upper lip vermilion, Periorbital w...	OMIM:224900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Cellulitis, Thickened skin, Long philtrum, Abnormal hair morphology, Leukon...	ORPHA:2526
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Peritonitis, Weigh...	ORPHA:679
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes mellitus, Abnormal autonomic nervous system physiology	OMIM:598500
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Esophagitis, Pe...	ORPHA:2538
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Congestive heart failure	ORPHA:2505
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Recurrent fever, Hepatomegaly, Abdominal distention, Elevated circulating C-re...	OMIM:619423
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture	ORPHA:158673
Xia-Gibbs Syndrome	Low-set ears, Micrognathia, Protruding ear, Uplifted earlobe, Small earlobe	OMIM:615829
Retinitis Pigmentosa 41	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ...	OMIM:612095
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Ketonuria	OMIM:616095
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Conductive hearing impairment, Bilateral cryptorchidism...	ORPHA:3042
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture, Decreased body weight	OMIM:614833
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid r...	ORPHA:100075
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Missing ribs, R...	OMIM:271520
Acromegaly	Thickened skin, Pituitary prolactin cell adenoma, Tall stature, Mitral regurgitation, Abnormal to...	ORPHA:963
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Cystinosis, Nephropathic	Myopathy, Hematuria, Weight loss, Aminoaciduria, Generalized aminoaciduria, Male hypogonadism, Fa...	OMIM:219800
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Neoplasm of the liver, Weight l...	ORPHA:1333
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278740
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Brachycephaly...	ORPHA:521445
Acromesomelic Dysplasia 4	Genu valgum, Generalized hirsutism, Beaking of vertebral bodies, Short metacarpal, Genu varum, Sh...	OMIM:619636
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Partial alb...	ORPHA:79430
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Lumbar hyperlordosis, Limited elbow extension, Disproportionate short-limb short s...	ORPHA:156728
Hereditary Spherocytosis	Cholelithiasis, Restrictive cardiomyopathy, Abdominal distention, Fever, Hyperbilirubinemia, Sple...	ORPHA:822
Retinitis Pigmentosa 58	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:613617
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss...	OMIM:608710
Mednik Syndrome	Microcolon, Diarrhea, Volvulus, Jejunal atresia	OMIM:609313
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Sec...	OMIM:616881
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Alopecia Universalis	Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of...	ORPHA:701
Basilar Impression, Primary	Short neck, Limb muscle weakness, Horner syndrome, Kyphoscoliosis	OMIM:109500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia, Hearing impairment, Hypopigmented skin patches, Decreased nerve conduction velocity, Sho...	OMIM:609136
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Sh...	OMIM:200610
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Secondary microcephaly, Primary microcephaly, EEG with multifocal slow activity, Small for gestat...	ORPHA:289266
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Xeroderma Pigmentosum, Variant Type	Keratitis, Cutaneous telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278750
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Genu valgum, Osteolytic defects of the phalanges of the hand	OMIM:600705
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Hearing impairment, Retrognathia, Failure to thrive, Overhanging nasal tip, Micro...	OMIM:619869
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r...	OMIM:300578
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Failure to thrive	OMIM:300770
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Finger syndactyly,...	ORPHA:110
Young-Onset Parkinson Disease	Spasticity, Gait imbalance, Tremor, Rigidity, Bradykinesia	ORPHA:2828
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat...	OMIM:615630
Cushing Disease	Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Increased urinary co...	ORPHA:96253
Immunodeficiency 82 With Systemic Inflammation	Pustular rash, Osteomalacia, Recurrent otitis media, Oral ulcer, Weight loss, Elevated circulatin...	OMIM:619381
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist...	ORPHA:521219
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Phosphoribosylaminoimidazole Carboxylase Deficiency	Low-set ears, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nare...	OMIM:619859
Bardet-Biedl Syndrome 20	Pancreatitis, Obesity, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia	OMIM:619471
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Obesity, Hyperbilirubinemia, Decreased circulating cortisol level, Hypoglycemic seiz...	OMIM:609734
Ichthyosis, Congenital, Autosomal Recessive 4B	Ectropion, Proptosis, Everted lower lip vermilion, Failure to thrive	OMIM:242500
Parathyroid Carcinoma	Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Lipoma,...	ORPHA:143
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Fibrous syngnathia, Joint stiffness, Micrognathia, Generalized hirsutism, Ab...	ORPHA:1300
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Chilblains, Int...	OMIM:619858
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Opsismodysplasia	Depressed nasal bridge, Joint stiffness, Abnormally ossified vertebrae, Large fontanelles, Spleno...	ORPHA:2746
Leishmaniasis	Abnormal oral mucosa morphology, Hypoalbuminemia, Skin ulcer, Pancytopenia, Leukopenia, Pallor, A...	ORPHA:507
Late-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Failure to thrive, Fever, Postnatal growth retardation, Hyponatremia, Elev...	ORPHA:556037
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase...	OMIM:617049
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology,...	ORPHA:1647
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Flexion contracture, Tongue atrophy, Hip dislocation	OMIM:614678
Somatomammotropinoma	Thickened skin, Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, ...	ORPHA:314769
Null Syndrome	Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne...	ORPHA:280234
Isolated Exencephaly	Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton mo...	ORPHA:563612
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Neoplasm of the rectum, Const...	ORPHA:440437
Spinocerebellar Ataxia, Autosomal Recessive 8	Ptosis, Scoliosis, Kyphosis	OMIM:610743
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Knee flexion contracture, Thoracic scoliosis, Long palpebral fissure, Ptosi...	OMIM:603387
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Diarrhea, Abd...	ORPHA:100085
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Growth delay	OMIM:613987
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma...	ORPHA:90362
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Abnormality of the nose, Hypopigmented skin p...	ORPHA:999
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Small anterior fontanelle, Glossoptosis, Cleft palate, Hyperextensibility of the finger joints	OMIM:618356
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Failure to thr...	OMIM:229600
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Fever, Hypoglycemia	OMIM:229700
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Reduced subcutaneous adipose tissue, Proximal amyotrophy, Parathyroid...	ORPHA:653
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:168600
Retinitis Pigmentosa 49	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613756
Familial Isolated Hyperparathyroidism	Osteopenia, Chondrocalcinosis, Hypophosphatemia, Generalized osteoporosis, Hypercalcemia	ORPHA:99879
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Gait disturbance, Atax...	ORPHA:702
Isolated Anencephaly	Intrauterine growth retardation, Maternal diabetes, Congenital diaphragmatic hernia	ORPHA:563609
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo...	OMIM:603671
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Fine hair, Pulmonary hemorrhage, Short stature, Osteoporosis, Sparse hai...	OMIM:222700
Peters Plus Syndrome	Micrognathia, Hypertelorism, Short nose, Short palpebral fissure, Low-set, posteriorly rotated ea...	ORPHA:709
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Retrognathia, Distal shortening of limbs, Thick eyebrow, Thickened cortex...	ORPHA:488434
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Camptodactyly...	OMIM:619951
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyeli...	OMIM:601104
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Depressed nasal bridge, Short palpebral fissure, Dental crowding, Plagioce...	OMIM:619005
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Telecanthus, Alopecia of scalp, Sparse eyelashes, Joint hypermobility, Epica...	OMIM:615280
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Ankyloglossia, Alopecia of scalp, Sparse eyelashes, Bilateral cleft palate, Thin ...	OMIM:618874
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Thoracic hypoplasia, Umbilical hernia, Inguinal hernia, Joint hypermobility, Wrist ...	ORPHA:254528
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydronephrosis, Epicanthus, Hyp...	OMIM:620511
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Rhabdoid Tumor	Neoplasm of the liver, Weight loss	ORPHA:69077
Adrenomyodystrophy	Primary adrenal insufficiency, Myopathy, Abnormal intestine morphology, Short stature, Reduced bo...	ORPHA:977
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Cartilage-Hair Hypoplasia	Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Limited elbow extension, Macrocytic anemia, Sp...	OMIM:250250
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight loss, Cirrhosis, Dilat...	ORPHA:171
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Celiac disease, Alopecia, Hypopigmented skin patches	ORPHA:3143
Parkinson Disease 4, Autosomal Dominant	Weight loss, Orthostatic hypotension	OMIM:605543
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Joint stiffnes...	ORPHA:29207
Juvenile Nasopharyngeal Angiofibroma	Epistaxis, Proptosis, Nasal congestion	ORPHA:289596
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum mor...	OMIM:109400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Microcolon	OMIM:619431
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Low-set ears, Hypoplastic helices, Wide nasal bridge, Hearing impairment, Anteverted nares, Conge...	OMIM:617641
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cataract, Limited mobility of proximal interphalangeal joi...	OMIM:222300
Charge Syndrome	Low-set ears, Lymphopenia, Micrognathia, Sensorineural hearing impairment, Radial head subluxatio...	OMIM:214800
Phacoanaphylactic Uveitis	Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha...	ORPHA:209959
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility	OMIM:614874
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss,...	ORPHA:747
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Premature ventricular contr...	OMIM:620504
Otopalatodigital Syndrome, Type Ii	Low-set ears, Micrognathia, Narrow mouth, Hypertelorism, Downslanted palpebral fissures, Omphaloc...	OMIM:304120
Oculoectodermal Syndrome	Wide nasal bridge, Depressed nasal bridge, Hyperpigmented streaks, Proptosis, Supernumerary nippl...	OMIM:600268
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Limited hip movement, Abnormally ossified vertebrae, Laryngotracheomalacia, Glosso...	ORPHA:93346
Perlman Syndrome	Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, Large for gestational age, ...	OMIM:267000
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Glucose/Galactose Malabsorption	Glycosuria, Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Abn...	OMIM:606824
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Widely spaced teet...	ORPHA:98795
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Bilateral talipe...	OMIM:306955
Hawkinsinuria	Abnormal circulating tyrosine concentration, Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperkeratosis, Hyperpigmentation of the skin	ORPHA:454831
Cystinosis	Hypokalemia, Hypophosphatemia, Rickets, Failure to thrive	ORPHA:213
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Genu valgum, Epicanthus, Mandibular prognathia, Short nose, Wide nose	ORPHA:2831
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Eyelid coloboma, Aplasia/Hypoplasia of the...	ORPHA:1134
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue, Camptodactyly of finger	ORPHA:2928
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Sparse pubic hair, Hypoplasia of the maxilla, Breast aplasia, Eunuchoid habitus, Cleft ala nasi, ...	ORPHA:3044
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi...	OMIM:278800
Fanconi Anemia, Complementation Group B	Low-set ears, Bilateral radial aplasia, Absent thumb, Hypogonadism, Intrauterine growth retardati...	OMIM:300514
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S...	ORPHA:3241
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent otitis media, Situs inversus totalis, Decreased fertility, Atria...	OMIM:615067
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Arteria lusoria, Intrauterine growth retardation, Left axis d...	OMIM:620294
Gorlin Syndrome	Abnormal vertebral morphology, Mandibular prognathia, Carious teeth, Vertebral wedging, Abnormal ...	ORPHA:377
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central ad...	OMIM:615577
Congenital Isolated Acth Deficiency	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Prolonged neonatal j...	ORPHA:199296
Persistent Hyperplastic Primary Vitreous	Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme...	ORPHA:91495
Juvenile Polyposis Of Infancy	High, narrow palate, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Diarrhea, Pr...	ORPHA:79076
Intellectual Developmental Disorder, Autosomal Dominant 66	Low-set ears, Brachycephaly, Sparse hair, Plagiocephaly	OMIM:619910
Peripheral Primitive Neuroectodermal Tumor	Proptosis, Vertigo, Elevated carcinoma antigen 125 level, Metrorrhagia, Weight loss, Pancreatitis...	ORPHA:370348
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Ischemic stroke, Congenital...	OMIM:208050
Zygomycosis	Cellulitis, Abnormal cranial nerve morphology, Pustule, Acute infectious pneumonia, Neutropenia, ...	ORPHA:73263
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity	ORPHA:440727
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Lethal short-limbed short stature...	OMIM:187601
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Spasticity, Small for gestational age, Spastic tetraparesis, Inability to walk, Tricuspid regurgi...	OMIM:620371
Chromosome 15Q25 Deletion Syndrome	Growth delay, Coronary artery fistula, Intrauterine growth retardation, Congenital diaphragmatic ...	OMIM:614294
Cranio-Osteoarthropathy	Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Congenita...	ORPHA:3097
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Schisis Association	Congenital diaphragmatic hernia, Small for gestational age, Micromelia	ORPHA:63862
Shukla-Vernon Syndrome	Wide nasal base, Downslanted palpebral fissures, Sparse hair, Hypertelorism	OMIM:301029
Witkop Syndrome	Hypoplastic fifth toenail, Abnormal sweat gland morphology, Fine hair, Agenesis of permanent teet...	OMIM:189500
Hand-Foot-Genital Syndrome	Hypoplastic fifth toenail, Synostosis of carpal bones, Microtia	ORPHA:2438
Small Bowel Atresia	Vomiting, Failure to thrive, Intrauterine growth retardation, Abdominal distention, Short stature...	ORPHA:1201
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Arterial rupture, Inguinal hernia, Joint hypermobility, Atrial septal defect, Short stature, Redu...	OMIM:619115
Pelger-Huet Anomaly	Short 3rd metacarpal, Failure to thrive, Umbilical hernia, Upper limb undergrowth, Short 5th meta...	OMIM:169400
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Arthritis	OMIM:615559
Hypoadrenocorticism, Familial	Vomiting, Hypoglycemia, Hyponatremia, Feeding difficulties in infancy, Hyperkalemia	OMIM:240200
Alport Syndrome 1, X-Linked	Anterior lenticonus, Developmental cataract, Lenticonus, Corneal erosion	OMIM:301050
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Esophageal ulceration	OMIM:618372
Nephroblastoma	Neoplasm of the liver, Weight loss	ORPHA:654
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Marfan Syndrome	Aortic regurgitation, Mitral annular calcification, Pulmonary artery dilatation, Decreased muscle...	OMIM:154700
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Pes cavus, Decreased number of peripheral myelinated nerve fibers, Peripheral axon...	ORPHA:320406
Cirrhosis, Familial	Esophageal varix	OMIM:215600
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Isotretinoin Embryopathy-Like Syndrome	Anotia, Micrognathia, Cleft palate, Microtia	OMIM:243440
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Optic atrophy, Retinal arteriolar constriction	OMIM:249660
Atresia Of External Auditory Canal And Conductive Deafness	Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a...	OMIM:108760
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Microc...	ORPHA:2585
9q subtelomeric deletion syndrome	Anteverted nares, Protruding tongue, Microcephaly, Short nose, Synophrys	DECIPHER:52
Blau Syndrome	Limitation of joint mobility, Abnormal salivary gland morphology, Xerostomia, Camptodactyly of fi...	ORPHA:90340
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Hypotelorism	OMIM:619053
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia, Cervical spinal canal stenosis, Micrognathia, Cryptorchidism, Low anterior hairline...	OMIM:620224
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Tetralogy of Fallot, Abnormal perica...	ORPHA:1335
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Eczematoid dermatitis, Widely spaced teeth, Dry skin, Delayed eruption of primar...	OMIM:617799
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Leptospirosis	Hypotension, Pulmonary hemorrhage, Pleural effusion, Rhabdomyolysis, Hepatomegaly, Arrhythmia, Fi...	ORPHA:509
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Split foot, 2-3 finger syndactyly, Hitchhi...	ORPHA:2437
Caroli Disease	Vomiting, Weight loss, Cholangiocarcinoma, Nausea, Esophageal varix	ORPHA:53035
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Inflammation of the large intestine, Pulmonary arterial hypertension, A...	OMIM:181000
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Arteritis, Hypoglycemia, Recurrent aphthous stomatitis, Micrognathia, Pro...	OMIM:233600
Sponastrime Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the nasal bone, Neutropenia, Short dental root, Pr...	ORPHA:93357
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278720
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Proptosis, Convex nasal ridge	OMIM:619793
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Abnormality of retinal pigmentation, Supernumerary tooth, Oligodont...	ORPHA:1264
Medullary Thyroid Carcinoma	Diarrhea, Dysphagia, Weight loss	ORPHA:1332
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Micromelia, Thoracic hypoplasia, Lateral clavicle ho...	OMIM:211350
Microphthalmia, Lenz Type	Abnormality of the dentition, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental...	ORPHA:568
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Persistence of hemoglobin F, Micrognathia, Epicanthus, Neutropeni...	OMIM:105650
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreatic hypoplasia, Exocrine ...	OMIM:260370
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Pigmentary retinopathy, Dry skin, Abnormality of the ear, Sparse hair, Secondary amenorrhea, Hype...	OMIM:268020
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Primary Effusion Lymphoma	Pericardial effusion, Abdominal pain, Abnormal peritoneum morphology, Abdominal distention	ORPHA:48686
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Splenomegaly, Sparse eyelash...	ORPHA:59303
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Petec...	ORPHA:540
Floating-Harbor Syndrome	Low-set ears, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Broad nasa...	ORPHA:2044
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum	ORPHA:493
Subacute Cutaneous Lupus Erythematosus	Cheilitis, Hyperkeratosis	ORPHA:163525
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote...	ORPHA:529808
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Centrifugal Lipodystrophy	Alopecia, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lack of facial subcut...	ORPHA:90156
Lethal Kniest-Like Dysplasia	Platyspondyly, Narrow chest, Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic verteb...	ORPHA:2347
Hurler Syndrome	Hypoplasia of the odontoid process, Cranial hyperostosis, Umbilical hernia, Joint stiffness, Ingu...	OMIM:607014
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Peg-shaped maxillary lat...	OMIM:150400
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Keloids, Rickets, Failure to thrive, Hip dislocatio...	OMIM:309000
Cadds	Micrognathia, Sensorineural hearing impairment, Increased circulating very long-chain fatty acid ...	ORPHA:369942
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hypoglycemia, Decreased liver function, Hyperglycemia, Feeding difficulties, Hyper...	OMIM:620423
Focal Dermal Hypoplasia	Abnormality of the dentition, Alopecia, Coarse metaphyseal trabecularization, Duodenal atresia, C...	ORPHA:2092
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Highly arched eyebrow, Aortic regurgitation, Camptodactyly of finger, Ankylo...	ORPHA:261330
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Alopecia, Downturned corners of mouth, Hypoplasia of eyelid, Genu valgum, Cleft so...	OMIM:619321
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Dry skin, Ridged na...	ORPHA:1010
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Growth delay, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Camptodactyly, Ab...	OMIM:617333
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Micromelia, ...	ORPHA:3003
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Craniometaphyseal Dysplasia, Autosomal Recessive	Optic atrophy, Flared metaphysis, Club-shaped distal femur, Patchy sclerosis of finger phalanx, M...	OMIM:218400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair	ORPHA:69735
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination	ORPHA:85179
Oligomeganephronia	Hypertension, Small for gestational age, Secundum atrial septal defect, Congenital diaphragmatic ...	ORPHA:2260
Lymphatic Malformation 13	Long philtrum, Mitral regurgitation, Patent foramen ovale, Smooth philtrum, Pulmonary arterial hy...	OMIM:620244
Renal, Genital, And Middle Ear Anomalies	Abnormality of the middle ear ossicles, Hearing impairment	OMIM:267400
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Shortened QT int...	ORPHA:99880
Papillon-Lefèvre Syndrome	Periodontitis, Hypopigmented skin patches, Atrophy of alveolar ridges, Sparse body hair, Pustule,...	ORPHA:678
Neuropathy, Congenital, With Arthrogryposis Multiplex	Distal amyotrophy, Arthrogryposis multiplex congenita, Hyperlordosis	OMIM:162370
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Opti...	OMIM:259730
Diamond-Blackfan Anemia 8	Wide nasal bridge, Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemi...	OMIM:612563
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased nerve conduction velocity, Macrocephaly, Sensorineural hearing impairmen...	OMIM:614863
Polydactyly, Postaxial, Type A6	Abnormal sweat gland morphology, Postaxial foot polydactyly, Abnormal dental morphology, Broad ph...	OMIM:615226
Oromandibular Dystonia	Weight loss, Dysphagia, Torticollis	ORPHA:93958
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation, Primary amen...	OMIM:264270
Alg1-Cdg	Cardiomyopathy, Renal insufficiency, Nephrotic syndrome, Scoliosis, Kyphosis	ORPHA:79327
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Flexion contracture of fin...	ORPHA:101085
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Genu valgum, Hypophosphatemic rickets	OMIM:618913
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Indolent Systemic Mastocytosis	Osteoporosis	ORPHA:98848
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Organic aciduria, Intrauterine growth retardation, Dysmetria, Weight loss, Gait disturbance, Atax...	OMIM:301310
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity, Hip dislocation, Scoliosis, Kyphosis	ORPHA:464282
Ataxia-Telangiectasia	Abnormality of chromosome stability, Failure to thrive, Premature graying of hair, Lymphopenia, M...	ORPHA:100
Distal Deletion 13Q	Optic atrophy, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Iris coloboma	ORPHA:1590
Ileal Neuroendocrine Tumor	Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Small intestine car...	ORPHA:100078
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Elevated circulating erythropoietin concentration, ...	OMIM:263400
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Abdominal distention, Micromelia, Umbilical hernia, Inguinal h...	OMIM:600972
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:93111
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Waardenburg Syndrome, Type 1	Wide nasal bridge, Underdeveloped nasal alae, Premature graying of hair, Partial albinism, Congen...	OMIM:193500
Coach Syndrome 1	Optic disc pallor, Esophageal varix	OMIM:216360
Microlissencephaly-Micromelia Syndrome	Failure to thrive, Long philtrum, Secondary microcephaly, EEG abnormality, Generalized hypertrich...	ORPHA:50810
Listeriosis	Pneumonia, Arteritis, Congestive heart failure, Rhabdomyolysis, Myocarditis, Endocarditis, Perica...	ORPHA:533
Neurooculorenal Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Central hypoth...	OMIM:620305
Radio-Renal Syndrome	Abnormal form of the vertebral bodies, Retrognathia, Micromelia, Micrognathia, Short neck, Hypopl...	ORPHA:3015
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Abnormality of the dentition, Sparse body hair, ...	OMIM:604379
Vacterl With Hydrocephalus	Abnormality of the outer ear, Microtia, third degree, Retrognathia, Anotia, Micrognathia, Inguina...	ORPHA:3412
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Giant Axonal Neuropathy	Genu valgum, Pili canaliculi, Joint hypermobility, Facial palsy, Woolly hair	ORPHA:643
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia	OMIM:602579
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Pediatric Systemic Lupus Erythematosus	Alopecia, Diarrhea, Vomiting, Fever, Myositis, Raynaud phenomenon, Abdominal distention, Pericard...	ORPHA:93552
Familial Thrombocytosis	Transient ischemic attack, Cerebral ischemia, Syncope, Weight loss, Pulmonary arterial hypertensi...	ORPHA:71493
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic atrophy, Recurrent pneumonia, Proptosis, Optic nerve c...	OMIM:612301
Rett Syndrome, Congenital Variant	Gastroesophageal reflux, Thin upper lip vermilion, Talipes equinovarus, Protruding ear, Athetosis	OMIM:613454
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Long philtrum, Thoracic kyphosis	OMIM:619467
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptodactyly of finger, Elbo...	ORPHA:1692
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Jalili Syndrome	Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph...	OMIM:217080
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Cachexia, Genu varum, Pectus excavatum, Scoliosis, Kyphosis	ORPHA:1969
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Cryptorchidism, Absent eyelashes, Absent eyebrow, Follicular hyperkeratosis, Hyperkeratosis, Hip ...	OMIM:308205
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissures, Anteverted nares...	ORPHA:1358
Holoprosencephaly 4	Depressed nasal bridge, Depressed nasal tip, Median cleft palate, Hypotelorism, Median cleft uppe...	OMIM:142946
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Ventricul...	ORPHA:3047
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea	ORPHA:103907
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Alopecia, Oral leukoplakia, Decreased testicular size, Nail dystrop...	OMIM:620040
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Hypospadias, Enuresis, Horseshoe kidney, Pyelonephritis, Vesicoureteral reflux...	OMIM:301111
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia	OMIM:616576
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Type I diabetes mellitus, Gastroesophageal reflux, Tetralogy of Fallot, Ankylogloss...	OMIM:619525
Hurler Syndrome	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal clavicle morphology, Campto...	ORPHA:93473
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent aphthous stomatitis, Autoimm...	OMIM:301078
Diphallia	Hypospadias, Penoscrotal transposition, Bifid scrotum, Horseshoe kidney, Ectopic scrotum, Distal ...	ORPHA:227
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Idiopathic Bronchiectasis	Cachexia, Myocardial infarction	ORPHA:60033
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Flexion contracture	ORPHA:158684
Generalized Pustular Psoriasis	Pedal edema, Congestive heart failure	ORPHA:247353
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi...	OMIM:617205
Beckwith-Wiedemann Syndrome	Proptosis, Prominent occiput, Large fontanelles, Omphalocele, Macroglossia, Posterior helix pit, ...	OMIM:130650
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278700
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Disproportionate short-limb short stature, Le...	OMIM:187600
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Antalgic gait, Elev...	ORPHA:635
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Anal atresia, Tracheoesophageal fistula, Esophageal atresia	OMIM:314390
Adult Syndrome	Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Alopecia of scalp, Sparse axi...	OMIM:103285
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Sparse eyebrow, Thin eyebrow, Micrognathia, Inguinal hernia, Malar flattening, Pectus...	OMIM:609944
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology	ORPHA:3405
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Polycystic liver disease, Increased total bilirubin	OMIM:174050
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Retrognathia, Joint hypermobility	ORPHA:456328
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Weight loss, Myocarditis, Tubulointerstitial nephritis, Nephro...	ORPHA:139402
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Pfeiffer Syndrome	Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Short neck, Hyperlordos...	ORPHA:710
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Failure to thrive	OMIM:607765
Campomelia, Cumming Type	Abnormal thorax morphology, Micromelia, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:1318
Myotonia Permanens	Limitation of joint mobility, Generalized muscle hypertrophy, Hyperlordosis, Short stature, Skele...	ORPHA:99735
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Obesity, Vesicoureteral reflux, Low anterior hairline, Proteinuria, Kyphosis	ORPHA:261222
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Ankyloblepharon, Cleft upper lip, Underdeveloped nas...	OMIM:229400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Temperature instability, Gastroesophageal reflux, Difficulty walking, Ineffective esophageal peri...	OMIM:619482
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate	OMIM:619227
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Obesity, Congenital diaphragmatic hernia, Brachyda...	ORPHA:1001
Hereditary Fructose Intolerance	Hypermagnesemia, Diarrhea, Vomiting, Reactive hypoglycemia, Hyperuricemia, Nausea, Chronic hepati...	ORPHA:469
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:2902
Pagod Syndrome	Hypoplastic left heart, Situs inversus totalis, Congenital diaphragmatic hernia, Arrhythmia, Shor...	ORPHA:991
Aicardi-Goutieres Syndrome 7	Basal ganglia calcification, Pancytopenia, Hepatic steatosis, Weight loss, Hepatomegaly, Vasculit...	OMIM:615846
Smith-Mccort Dysplasia 2	Platyspondyly, Hypoplasia of the odontoid process, Limited elbow extension, Decreased body weight...	OMIM:615222
Holoprosencephaly 2	Bifid uvula, Proptosis, Proboscis, Median cleft palate, Malar flattening, Submucous cleft hard pa...	OMIM:157170
Acute Promyelocytic Leukemia	Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Gingival overgrowth, Leu...	ORPHA:520
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Atrichia, Abnormality of the dentition, Abnormal sebaceous gland...	OMIM:614931
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Ventricula...	OMIM:259770
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Tracheoesophageal fistula, Esophageal atresia	ORPHA:77298
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Ankle flexion contracture, Coarse hair	OMIM:619985
Orofaciodigital Syndrome V	Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip...	OMIM:174300
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Low-set ears, Gastroesophageal reflux, Multiple joint contractures, Protruding ear, Dysphagia, Sy...	ORPHA:447997
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Cryptorchidism, Upslante...	ORPHA:404440
Mosaic Trisomy 20	Craniofacial asymmetry, Narrow chest, Retrognathia, Spinal canal stenosis, Micrognathia, Vertebra...	ORPHA:1724
Xfe Progeroid Syndrome	Severe short stature, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Microceph...	OMIM:610965
Thakker-Donnai Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1780
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Elongated femoral neck, Difficulty walking, Wide humerus, Abdominal distention	OMIM:619345
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Slow-growing hair, Sparse ha...	OMIM:618535
Aceruloplasminemia	Torticollis, Congestive heart failure	ORPHA:48818
Medulloblastoma	Delayed cranial suture closure, Vertigo, Abnormal cranial nerve morphology, Progressive macroceph...	ORPHA:616
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Depressed nasal bridge, Proptosis, Coarse metaphyseal trabecularization, Macrocephaly, Anteverted...	OMIM:620558
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia, Pancreatiti...	OMIM:600740
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Short stature, Scoliosis	OMIM:615155
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hearing impairment, White hair, Abnormal hip bone morphology, Arachnodactyly, Ataxia, Short statu...	ORPHA:2720
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Plagiocephaly, Long philtrum, Camptodactyly of fi...	ORPHA:1101
Lesch-Nyhan Syndrome	Testicular atrophy, Short stature, Poor head control	OMIM:300322
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Ab...	ORPHA:3144
Classic Phenylketonuria	Hypopigmentation of the skin, Eczematoid dermatitis, Lack of skin elasticity, Microcephaly, Hyper...	ORPHA:79254
White-Sutton Syndrome	Abnormal heart morphology, Incoordination, Obesity, Congenital diaphragmatic hernia, Facial hypot...	ORPHA:468678
Autoimmune Polyendocrinopathy Type 1	Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Adrenal hyperplasia, Hypopa...	ORPHA:3453
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Thin eyebrow, Open mouth, Protruding tongue, Joint hypermobility, Smooth philtrum, Everted lower ...	OMIM:617804
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Ventricular ...	OMIM:134780
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Elevated c...	ORPHA:79318
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Overlapping toe, R...	OMIM:616682
Feingold Syndrome	Esophageal atresia, Duodenal atresia	ORPHA:1305
Progressive Non-Infectious Anterior Vertebral Fusion	Kyphosis, Abnormality of the vertebral column, Joint stiffness, Micrognathia, Hemivertebrae, Abno...	ORPHA:2062
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Kyphosis	ORPHA:500180
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Right atrial enlargement, Atrial septal defect	OMIM:615219
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy	OMIM:535000
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Intrauterine grow...	ORPHA:887
Wolfram Syndrome 2	Optic atrophy, Optic neuropathy, Diabetes mellitus	OMIM:604928
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol...	OMIM:118450
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Failure to thrive, Umbilical hernia, Hypogonadism, Esophagitis, In...	ORPHA:79351
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Holzgreve Syndrome	Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:2167
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Ileus, Aganglionic megacolon, Constipation, Arthrogryposis multiplex congenita	ORPHA:163746
Tropical Pancreatitis	Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Weight loss, Maternal...	ORPHA:103918
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia, Umbilical hernia	OMIM:300555
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Depressed nasal bridge, Conical tooth, Absent nipple, Sparse lateral eyebrow, Periorbital wrinkle...	OMIM:614941
Meningioma	Proptosis, Obesity, Abnormality of the sense of smell, Tinnitus, Ear pain, Hypogonadotropic hypog...	ORPHA:2495
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Erythema, Sparse eyebrow, Sparse scalp hair, Fine hair, Prominent nose, Narrow m...	OMIM:614748
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor...	ORPHA:79098
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ...	OMIM:618963
Carney Complex	Ovarian cyst, Increased body weight, Ovarian dermoid cyst, Oligozoospermia, Ovarian serous cystad...	ORPHA:1359
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Hypogonadism, Cryptorchidism, Micropenis, Flexion contracture, Overweight, Sco...	ORPHA:500055
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension...	ORPHA:90062
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Glycogen Storage Disease Ic	Spider hemangioma, Inflammation of the large intestine, Gout, Hepatoblastoma, Pulmonary arterial ...	OMIM:232240
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Bilateral cryptorchidism, Inguinal hernia, Hypoplastic toen...	ORPHA:544488
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip tela...	ORPHA:79280
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Folinic Acid-Responsive Seizures	Difficulty walking, Broad-based gait, Abdominal distention, Ataxia	ORPHA:79097
Glucose-Galactose Malabsorption	Vomiting, Diarrhea, Failure to thrive, Fever, Malnutrition, Hyperactive bowel sounds, Osmotic dia...	ORPHA:35710
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypogonadotropic hypogonadism, Hypo...	ORPHA:177910
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate...	OMIM:615356
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon	OMIM:619362
Peritoneal Cystic Mesothelioma	Peritonitis, Constipation, Weight loss	ORPHA:168816
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Short neck, Adren...	ORPHA:231720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy, Spasticity, Myoclonus, Generalized muscle weakness, Muscle weakness	OMIM:253280
Von Hippel-Lindau Disease	Macular edema, Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle...	ORPHA:892
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Hyperconvex nail, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Nocardiosis	Cellulitis, Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious enc...	ORPHA:31204
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Cataract, Sandal gap, Abnormality of retinal pigmentation, Abnormal retinal vascul...	ORPHA:2715
Roifman-Chitayat Syndrome	Optic atrophy, Short metatarsal, Cone-shaped epiphysis, Short metacarpal	OMIM:613328
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Castleman Disease	Restrictive cardiomyopathy, Follicular hyperplasia, Jaundice, Generalized lymphadenopathy, Weight...	ORPHA:160
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Splenomegaly, Epicanthus, Osteopetrosis, Hypertelorism, Hypopigment...	OMIM:618541
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	High anterior hairline, Horizontal eyebrow, Tracheomalacia, Thick eyebrow, Gingival overgrowth, P...	OMIM:618797
Thymoma	Myositis, Weight loss, Neoplasm of the gastrointestinal tract, Ulcerative colitis	ORPHA:99867
Hyperoxaluria, Primary, Type I	Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Dehydr...	OMIM:259900
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss	ORPHA:411703
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Umbilical hernia, Protruding tongue, Hypoplastic toenails, Alveolar ridge overgrowth...	OMIM:612938
Pontocerebellar Hypoplasia, Type 17	Upslanted palpebral fissure, Low anterior hairline, Epicanthus, Patent ductus arteriosus, Kyphosis	OMIM:619909
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:611812
Craniofacial Microsomia 1	Atresia of the external auditory canal, Unilateral external ear deformity, Underdeveloped tragus,...	OMIM:164210
Pontine Tegmental Cap Dysplasia	Failure to thrive, Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran...	ORPHA:404454
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Nodular Non-Suppurative Panniculitis	Panniculitis, Weight loss	ORPHA:33577
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Rhizomelia, Lumbar hyperlordosis, Malar flattening, Joint hypermobility, Short nec...	OMIM:612813
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio...	OMIM:114000
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Vasculitis	OMIM:601979
Bullous Pemphigoid	Weight loss, Diabetes mellitus	ORPHA:703
Cono-Spondylar Dysplasia	Short nail, Failure to thrive, Short 4th toe, Short humerus, Short neck, Short lower limbs, Scoli...	ORPHA:420794
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Obesity, Anteverted nares, Tented upper lip vermilion, Thin upper lip ...	OMIM:619854
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia	OMIM:134600
Trichodermodysplasia-Dental Alterations Syndrome	Adenoma sebaceum, Delayed eruption of teeth, Fine hair, Tooth agenesis, Sparse lateral eyebrow, A...	ORPHA:3353
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Absent axillary hair	OMIM:269600
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hyperbilirubinemia, Reduced subcuta...	OMIM:606812
Machado-Joseph Disease Type 1	Abnormal vestibular function, Proptosis	ORPHA:276238
Machado-Joseph Disease Type 2	Abnormal vestibular function, Proptosis	ORPHA:276241
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, Conjunctivit...	OMIM:601495
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Hemophagocy...	OMIM:214500
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97283
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Abnormality of the dentition, Spars...	OMIM:615885
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis	ORPHA:64745
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Severe short stature, Kyphoscoliosis	OMIM:184253
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Adrenoleukodystrophy	Alopecia, Hyperpigmentation of the skin	OMIM:300100
Generalized Eruptive Histiocytosis	Spotty hyperpigmentation, Hypereosinophilia, Leukemia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Hermansky-Pudlak Syndrome 3	Gingival bleeding, Hypopigmentation of the skin, Spontaneous, recurrent epistaxis, Abnormal numbe...	OMIM:614072
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Alopecia, Villous atrophy, Arthritis	OMIM:304790
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis	OMIM:217090
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Recurrent otitis media, Vitiligo, Abnormal B cel...	OMIM:620430
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Clubbing, Facial telangiectasia, Ga...	OMIM:600376
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Oral leukoplakia, Failure to thrive, Premature graying of h...	ORPHA:3322
Lymphangiectasia, Intestinal	Abnormal hair morphology, Prominent floating ribs	OMIM:152800
Syndromic Diarrhea	Wide nasal bridge, Abnormality of iron homeostasis, Trichorrhexis nodosa, Dry skin, Lymphopenia, ...	ORPHA:84064
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Hypotrichosis 8	Abnormality of the dentition, Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Spar...	OMIM:278150
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Distal Renal Tubular Acidosis	Rickets, Failure to thrive, Osteomalacia, Reduced bone mineral density, Increased susceptibility ...	ORPHA:18
Alport Syndrome	Anterior lenticonus, Posterior subcapsular cataract, Macular degeneration, Abnormal corneal endot...	ORPHA:63
Alport Syndrome 3A, Autosomal Dominant	Nephritis, Hearing impairment, Sensorineural hearing impairment, Hypophosphatemia, Glomerulonephr...	OMIM:104200
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Myocarditis, Hepatomegaly, Ge...	ORPHA:829
Machado-Joseph Disease Type 3	Abnormal vestibular function, Proptosis	ORPHA:276244
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly	OMIM:603903
Omenn Syndrome	Thickened skin, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Growth delay, Hyperlipidemia, Abdominal distention, Hyp...	OMIM:256300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Narrow chest, Large posterior fontane...	OMIM:250220
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Corneal opacity, Cataract	ORPHA:309288
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Fibular aplasia, Humeroradial synostosis, Aplasia/hypoplasia of the extremities, Barrel-shaped ch...	OMIM:276820
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Abnormal heart valve morphology, Pathologic fracture, Neoplasm of the...	ORPHA:77293
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss, Alopecia of scalp	ORPHA:704
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Obesity, Lumbar hyperlordosis, Open...	OMIM:616078
Netherton Syndrome	Sparse eyebrow, Irregular hyperpigmentation, Eczematoid dermatitis, Fine hair, Abnormal hair morp...	ORPHA:634
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Failure to thrive, Abnormal peristalsis, Abdominal d...	OMIM:615237
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Esophageal varix, Retinal telangiectasia, Gastrointe...	ORPHA:774
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Trichorrhexis nodosa, Curly eyelashes, Chronic irritative conjunctivitis, Curl...	OMIM:258360
Mgat2-Cdg	Osteopenia, Failure to thrive, Long eyelashes, Hirsutism, Hypoplastic nipples, Pectus excavatum, ...	ORPHA:79329
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	ORPHA:1652
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Lumbar hyperlordosis, Joint hypermobility, Short neck, Relative macrocephaly, Mandibu...	ORPHA:171866
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Hypothyroidism, Diabetes mellitus, Paraspinal muscle hypertrophy	ORPHA:3198
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Sparse eyebrow, Hypocholesterolemia, Anteverted nares, Micrognathia, Narrow mo...	OMIM:618810
Hartnup Disease	Gingivitis, Glossitis, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Leber Congenital Amaurosis 15	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Per...	OMIM:613843
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Failure to thrive, Parotitis, Ascending tubular aorta aneurysm, Colitis, Arthr...	OMIM:620376
Intellectual Developmental Disorder, Autosomal Recessive 78	Optic neuropathy, Kyphoscoliosis	OMIM:620237
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Hearing impairment, Failure to thrive, Microcephaly, Hypsarrhythmia, Primary microcephaly, Metopi...	OMIM:620024
Joubert Syndrome 5	Episodic tachypnea, Oculomotor apraxia, Central apnea, Ataxia	OMIM:610188
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick lower lip vermilion, Thick upper lip vermilion, Long eyelashes, Obesity, Broad lateral eyeb...	OMIM:608624
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i...	ORPHA:293173
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal femur morphology, Congenital diaphragmatic hernia, Abnormal fibula morphology	ORPHA:2063
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, EEG abnormality	ORPHA:206448
Metaphyseal Chondrodysplasia, Schmid Type	Platyspondyly, Lumbar hyperlordosis, Proportionate short stature, Short stature, Scoliosis, Mild ...	OMIM:156500
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Horizontal eyebrow, Brachyturricephaly, EEG with focal sharp waves, EEG with spike-wave complexes...	ORPHA:522077
Shprintzen Omphalocele Syndrome	Narrow chest, Lumbar hyperlordosis, Decreased body weight, Omphalocele, Scoliosis, Kyphosis	OMIM:182210
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Fasting hypoglycemia, Ataxia, Retinal hemorrhage, Athetosis, Dysphagia, Feed...	ORPHA:25
Cardiospondylocarpofacial Syndrome	Failure to thrive, Carpal synostosis, Muscular ventricular septal defect, Congenital diaphragmati...	OMIM:157800
Encephalocraniocutaneous Lipomatosis	Alopecia, Subcutaneous lipoma, Linear hyperpigmentation, Cryptorchidism, Multiple central nervous...	OMIM:613001
Qazi-Markouizos Syndrome	Chronic constipation, Torticollis, Abdominal distention, Delayed ossification of carpal bones, Ta...	ORPHA:3010
Culler-Jones Syndrome	Hypogonadism, Cleft palate, Hypotelorism, Cleft upper lip	OMIM:615849
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Ventricular septal defect, Cirrho...	OMIM:270400
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Natal tooth, Delayed eruption of teeth, Acetabular spurs, Genu va...	OMIM:225500
Dysosteosclerosis	Optic atrophy, Coarse metaphyseal trabecularization, Abnormal cranial nerve morphology, Hypoplast...	ORPHA:1782
Dextrocardia	Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia	ORPHA:1666
Immunodeficiency 23	High palate, Failure to thrive, Esophageal stricture	OMIM:615816
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Monocytosis, Elevat...	OMIM:619644
Ulbright-Hodes Syndrome	Thin ribs, Low-set ears, Clitoral hypertrophy, Postnatal growth retardation, Fibular aplasia, Mic...	ORPHA:3404
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ...	ORPHA:97278
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Weight loss	ORPHA:90060
Sturge-Weber Syndrome	Optic atrophy, Abnormal choroid morphology, Heterochromia iridis, Conjunctival telangiectasia, Ab...	ORPHA:3205
Trichinellosis	Central retinal artery occlusion, Skin rash, Conjunctival hyperemia, Retinal hemorrhage, Conjunct...	ORPHA:863
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Hypertrichosis, Joint hypermobility, Contracture of the proximal interphalange...	OMIM:618050
Klatskin Tumor	Weight loss, Cholangiocarcinoma	ORPHA:99978
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Micrognathia, 2-3 toe syndactyly, Abnormal optic disc morphology	OMIM:617516
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix	OMIM:263200
Lymphatic Filariasis	Ankle swelling, Orchitis, Knee osteoarthritis, Hyperpigmentation of the skin, Vaginal hydrocele, ...	ORPHA:2035
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Increased circulating ferritin concentration, Absent brainstem auditory respon...	ORPHA:3240
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Aicardi Syndrome	Block vertebrae, Sparse lateral eyebrow, Butterfly vertebrae, Prominence of the premaxilla, Hiatu...	OMIM:304050
Hypotrichosis 3	Abnormal sweat gland morphology, Abnormality of the dentition, Abnormal eyelash morphology, Abnor...	OMIM:613981
Kindler Syndrome	Anal stenosis, Dysphagia, Oral leukoplakia, Esophageal stenosis	OMIM:173650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abdominal distention, Hypertrichosis, Pancreatic lymphangiectasis, Postnatal gro...	ORPHA:1655
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hyperglycinemia, Hyperammonemia, ...	OMIM:251100
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Skeletal muscle atrophy, Hyperlordosis	ORPHA:269
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97261
Hermansky-Pudlak Syndrome 8	Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides, Iris tran...	OMIM:614077
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Umbilical hernia, Inguinal hernia, Short neck, Hyperlordos...	ORPHA:3218
Microphthalmia, Syndromic 1	Low-set ears, Tooth malposition, Joint contracture of the hand, Clinodactyly, Hearing impairment,...	OMIM:309800
Hypoglossia With Situs Inversus	Hypodontia, High palate, Microglossia, Narrow mouth	OMIM:612776
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Intestinal obstruction, Ab...	OMIM:226300
Townes-Brocks Syndrome 1	Choanal atresia, Small for gestational age, Stahl ear, Umbilical hernia, Lop ear, Satyr ear, Sens...	OMIM:107480
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Alopecia, Hepatitis, Failure to thrive in infancy, Osteomyelitis, Nail ...	ORPHA:37042
Tetraamelia Syndrome 2	Absent nipple, Ankyloglossia, Bilateral cleft lip, Glossoptosis, Cleft palate	OMIM:618021
Pulmonary Hypertension, Primary, 3	Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular...	OMIM:615343
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchidism, Everted lower lip v...	OMIM:610253
Kosaki Overgrowth Syndrome	Wide nasal bridge, Depressed nasal bridge, Proptosis, Downslanted palpebral fissures, Xanthelasma...	OMIM:616592
Oncogenic Osteomalacia	Pathologic fracture, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypoc...	ORPHA:352540
Lynch Syndrome	Gastrointestinal hemorrhage, Intestinal polyposis, Salivary gland neoplasm, Neoplasm of the rectu...	ORPHA:144
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Motor axonal neuropathy, Palmoplantar hyperkeratosis, Orthostatic hypotension, Abn...	OMIM:231550
Igg4-Related Kidney Disease	Chronic kidney disease, Urethritis, Hematuria, Weight loss, Abnormality of the anterior pituitary...	ORPHA:449395
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Pulmonary arteriovenous malform...	OMIM:175050
Seckel Syndrome 2	Few cafe-au-lait spots, Microglossia, Microdontia	OMIM:606744
Q Fever	Vasculitis, Abnormal vascular morphology, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Hypotrichosis 13	Abnormal sweat gland morphology, Abnormal dental morphology, Sparse eyelashes, Woolly hair, Spars...	OMIM:615896
Neurofibroma	Abnormal cranial nerve morphology, Enlargement of parotid gland, Abnormal biliary tract morpholog...	ORPHA:252183
You-Hoover-Fong Syndrome	Ataxia, Kyphoscoliosis	OMIM:616954
Chronic Beryllium Disease	Weight loss	ORPHA:133
Srd5A3-Cdg	Cataract, Abnormal sacrum morphology, Kyphosis, Hypertrichosis	ORPHA:324737
Curry-Jones Syndrome	High anterior hairline, Lip pit, Unicoronal synostosis, Bicoronal synostosis, Hirsutism, Wormian ...	OMIM:601707
Cutis Laxa, Autosomal Recessive, Type Ia	Arachnodactyly, Aortic regurgitation, Supravalvular aortic stenosis, Congenital diaphragmatic hernia	OMIM:219100
Kinsship Syndrome	Osteopenia, Downturned corners of mouth, Hypertrichosis, Thick lower lip vermilion, Ankyloglossia...	OMIM:619297
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Macrocephaly, Lumbar hyperlordosis, Limited elbow ...	OMIM:100800
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Failure to thrive, Intrauterine growth retardation, Situs inversus totali...	OMIM:243800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Glycosuria, Decreased liver function, Failure to thrive, Increased intramyocellular lipid droplet...	OMIM:220110
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Congenital Short Bowel Syndrome	Sparse hair, Lipoatrophy	ORPHA:2301
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Fryns Syndrome	Short distal phalanx of finger, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal ca...	ORPHA:2059
Thyroid Hemiagenesis	Umbilical hernia, Jaundice, Constipation, Abdominal distention, Macroglossia, Growth delay	ORPHA:95719
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Matthew-Wood Syndrome	Intrauterine growth retardation, Congenital diaphragmatic hernia, Failure to thrive	ORPHA:2470
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention	OMIM:619445
Resistance To Thyrotropin-Releasing Hormone Syndrome	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Overweight	ORPHA:99832
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Transient ischemic attack, Congenital diaphragmatic hernia, Arachnodacty...	OMIM:619656
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Cor pulmonale, Short stature, Small for gestational age	OMIM:215250
Alacrima, Congenital, Autosomal Dominant	Punctate corneal epithelial erosions	OMIM:103420
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Agnathia-Otocephaly Complex	Microglossia, Tracheomalacia, Aglossia, Narrow mouth, Cleft palate	OMIM:202650
Pure Mitochondrial Myopathy	Quadriceps muscle weakness, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Rhabdomyolysis...	ORPHA:254854
Biotinidase Deficiency	Alopecia, Eczematoid dermatitis, Organic aciduria, Skin rash, Conjunctivitis	ORPHA:79241
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Familial Infantile Myoclonic Epilepsy	Interictal EEG abnormality, EEG with focal spike waves, Proptosis, Blepharospasm	ORPHA:352582
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Failure to thrive, Supernumerary nipple, Bilateral cryptorchidism, Slender build, Cryptorchidism,...	ORPHA:466791
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Cataract, Deviation of the 2nd finger, Cerulean ca...	ORPHA:67036
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Myasthenic Syndrome, Congenital, 20, Presynaptic	Ptosis, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis	OMIM:617143
X-Linked Intellectual Disability, Cantagrel Type	Short philtrum, Tented upper lip vermilion, Short nose	ORPHA:85277
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Thoracoabdominal Syndrome	Transposition of the great arteries, Congenital diaphragmatic hernia, Ectopia cordis	OMIM:313850
Cystic Fibrosis	Osteopenia, Gastroesophageal reflux, Absent vas deferens, Hearing impairment, Meconium ileus, Sin...	ORPHA:586
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Scal...	OMIM:604536
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Oral ulcer	ORPHA:169154
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Long philtrum, Frontal bossing, Thick vermilion border, Microcephaly, Macrocephaly,...	OMIM:252160
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Recurrent infection of the gastrointestinal tract, Inguinal hernia, Decreased body weig...	ORPHA:51890
Juvenile Sialidosis Type 2	Umbilical hernia, Gingival overgrowth, Inguinal hernia, Protruding tongue, Generalized hypertrich...	ORPHA:93399
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Primary Hyperoxaluria	Abnormality of the dentition, Abnormal dental pulp morphology, Arterial occlusion, Failure to thr...	ORPHA:416
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Multiple Myeloma	Osteopenia, Pathologic fracture, Splenomegaly, Weight loss, Lymphadenopathy, Anemia, Vertebral co...	ORPHA:29073
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Spastic Paraplegia Type 2	Spastic gait, Limitation of joint mobility, Pulmonary embolism, Ataxia	ORPHA:99015
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Long philtrum, Frontal bossing, Thick vermilion border, Microcephaly, Macrocephaly,...	OMIM:252150
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, P...	OMIM:300106
Meige Disease	Cellulitis, Cobblestone-like hyperkeratosis, Atypical scarring of skin	ORPHA:90186
Chand Syndrome	Short fifth metatarsal, Imperforate hymen, Agenesis of permanent teeth, Curly hair, Nail dysplasi...	ORPHA:1401
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Larg...	OMIM:218600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Contracture of the proximal interphalangeal joint of the 3rd finger, Low anteri...	OMIM:618223
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Hepatomegaly, O...	ORPHA:1304
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Flexion contracture of finger, Camptodactyly, Scoliosis, Kyphosis	ORPHA:88628
Cerebral Visual Impairment	Microcephaly, Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia	ORPHA:447788
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Iris atrophy, S...	OMIM:201180
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Volvulus Of Midgut	Neonatal intestinal obstruction, Constipation, Abdominal distention	OMIM:193250
3Q27.3 Microdeletion Syndrome	Kyphoscoliosis	ORPHA:397695
Pulmonary Hypertension, Primary, 2	Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In...	OMIM:615342
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Peritonitis, Ileal atresia	OMIM:619351
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to...	ORPHA:2752
Giant Axonal Neuropathy 1, Autosomal Recessive	Macrocephaly, Facial palsy, Curly hair	OMIM:256850
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Limb Body Wall Complex	Broad hallux, Abnormal heart morphology, Aplasia of the proximal phalanges of the hand, Cutaneous...	ORPHA:2369
Pyomyositis	Myositis, Weight loss, Renal insufficiency	ORPHA:764
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Abdominal d...	OMIM:214700
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess...	OMIM:616959
Carney Triad	Gastrointestinal hemorrhage, Ascites, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertension	ORPHA:139411
Sotos Syndrome	Abnormal vertebral morphology, Decreased fertility, Cryptorchidism, Hip contracture, Acute lympho...	ORPHA:821
Renal And Mullerian Duct Hypoplasia	Micrognathia, Frontal bossing, Short nose, Hypertelorism	OMIM:266810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Spasticity	OMIM:615287
Thyroid Hypoplasia	Jaundice, Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay	ORPHA:95720
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Amaurosis-Hypertrichosis Syndrome	Optic atrophy, Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys	ORPHA:1021
Denys-Drash Syndrome	Hypertension, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Enlarged kidney	OMIM:194080
Peeling Skin Syndrome 1	Nail dystrophy, Onycholysis, Eosinophilia, Erythroderma, Scaling skin, Brittle hair	OMIM:270300
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Preaxial polydactyly, Congenital diaphragmatic hernia, Postaxial polydactyly, Atrial ...	OMIM:616546
Postinfectious Vasculitis	Cardiomyopathy, Cerebral vasculitis, Elevated haptoglobin level, Ischemic stroke, Abnormal circul...	ORPHA:48435
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Male sexual dysfunction, Female sexual dysfunction, ...	ORPHA:322
Thyroid Ectopia	Growth delay, Umbilical hernia, Jaundice, Constipation, Abdominal distention, Short stature, Macr...	ORPHA:95712
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Acromesomelic Dysplasia 1	Thoracolumbar kyphosis, Short nail, Disproportionate short-limb short stature, Lumbar hyperlordos...	OMIM:602875
Fryns Syndrome	Joint contracture of the hand, Meckel diverticulum, Intestinal malrotation, Large for gestational...	OMIM:229850
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Broad thumb, Microretrognathia, Broad hallux, Retinal coloboma, Preaxial hand p...	ORPHA:508498
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Alopecia	OMIM:620651
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Gait ataxia, Cholecystitis, Progressive gait ataxia, Feeding difficulties in infanc...	ORPHA:309256
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, A...	ORPHA:54251
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Meckel Syndrome 14	Hepatic fibrosis, Postaxial foot polydactyly, Abdominal distention, Tricuspid regurgitation, Mitr...	OMIM:619879
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re...	OMIM:212093
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, B lymphocytopenia, Hypochro...	OMIM:616084
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Weight loss, Oligoarthritis, Pancreatitis, Arthritis,...	ORPHA:31205
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital...	OMIM:619702
Goodpasture Syndrome	Pulmonary hemorrhage, Tachypnea, Exertional dyspnea, Weight loss	OMIM:233450
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Ecchymosis, Joint hemorrhage, Short nose	OMIM:277450
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Rickets, Failure to thrive, Hypokalemia, Hypophosphatemia, Abnormal blood...	ORPHA:411629
Pancreatoblastoma	Pancreatic calcification, Weight loss	ORPHA:677
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom...	OMIM:615122
Hemihyperplasia-Multiple Lipomatosis Syndrome	Multiple lipomas, Seborrheic dermatitis, Lipoatrophy, Microtia	ORPHA:276280
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Hyperhomocystinemia, Hypomethioninemia, Methylmaloni...	OMIM:277410
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal odontoid process morphology, Kyphoscoliosis	ORPHA:2976
Riddle Syndrome	Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage, Weight loss, Elevated c...	ORPHA:420741
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co...	OMIM:261900
Gallbladder Neuroendocrine Tumor	Nausea, Weight loss, Biliary tract neoplasm	ORPHA:100086
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Petechiae, Splenomegaly, Hyperpigmentation ...	ORPHA:158029
Diets-Jongmans Syndrome	Short stature, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:618846
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	High anterior hairline, Retrognathia, Supernumerary nipple, Elbow flexion contracture, Genu valgu...	OMIM:619194
Hughes-Stovin Syndrome	Vasculitis, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:228116
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Sandal gap, Posterolateral diaphragmatic hernia, Patent foramen ov...	OMIM:613177
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Polycystic ovaries, Hirsutism, Hyperpigmentation of the skin, Testicular adrenal rest t...	ORPHA:90795
Nail-Patella Syndrome	Triceps aplasia, Cleft upper lip, Quadriceps aplasia, Biceps aplasia, Lumbar hyperlordosis, Absen...	OMIM:161200
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Adrenomyeloneuropathy	Frontal balding, Male sexual dysfunction, Lip hyperpigmentation, Fine hair, Female sexual dysfunc...	ORPHA:139399
Kanzaki Disease	Lip telangiectasia, Hyperkeratosis, Telangiectasia of the oral mucosa, Thick lower lip vermilion	OMIM:609242
Holoprosencephaly 1	Proboscis, Median cleft palate, Hypotelorism, Median cleft upper lip, Microcephaly, Cyclopia, Apl...	OMIM:236100
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Scoliosis, Lumbar hyperlordosis, Distal amyotrophy, Limb muscle weakness	OMIM:601152
Kikuchi-Fujimoto Disease	Vasculitis, Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlar...	ORPHA:50918
Heterotaxy, Visceral, 7, Autosomal	Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv...	OMIM:616749
Metachromatic Leukodystrophy, Adult Form	Difficulty walking, Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Progress...	ORPHA:309271
Angelman Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Fair hair, Widely spaced teeth, Protruding t...	ORPHA:72
Revesz Syndrome	Ridged fingernail, Aplastic anemia, Oral leukoplakia, Fine hair, Nail dystrophy, Macrocytic anemi...	OMIM:268130
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Alopecia universalis, Patchy alopecia, Villous atrophy	OMIM:606367
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Plagiocephaly, Anteverted nares, Open mouth, Prominent metopic ridge, Inguin...	ORPHA:457284
Vater/Vacterl Association	Abnormal vertebral morphology, Failure to thrive, Short thumb, Abnormal rib morphology, Abnormal ...	OMIM:192350
Cerebrocostomandibular Syndrome	Posterior rib gap, Tracheomalacia, Bell-shaped thorax, Micrognathia, Kyphosis	ORPHA:1393
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Epistaxis, Inflammation of the large intestine, Hypopigmentation of the skin, ...	OMIM:203300
Polyembryoma	Fever, Abnormal peritoneum morphology, Abdominal distention, Abdominal pain, Elevated circulating...	ORPHA:180229
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication...	OMIM:236680
Caroli Syndrome	Hematemesis, Cholangiocarcinoma, Esophageal varix, Melena	ORPHA:480520
Omenn Syndrome	Thickened skin, Alopecia, Hypoplasia of the thymus	OMIM:603554
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Familial Hypocalciuric Hypercalcemia	Lipoma, Chondrocalcinosis, Osteomalacia	ORPHA:405
Phace Association	Optic atrophy, Increased retinal vascularity, Horner syndrome, Developmental cataract, Optic nerv...	OMIM:606519
Knobloch Syndrome 1	Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,...	OMIM:267750
Palmoplantar Keratoderma, Epidermolytic, 2	Curly hair	OMIM:620411
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence, Ptosis, Scoliosis, Kyphosis	ORPHA:88644
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Dry skin, Oligodontia, Hypodontia, Everted lower lip vermilion, Britt...	OMIM:614940
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Vomiting, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, P...	OMIM:300048
Townes-Brocks Syndrome 2	Overfolded helix, Cupped ear, Microtia	OMIM:617466
Leukocyte Adhesion Deficiency	Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Nail dystrophy, Otitis media,...	ORPHA:2968
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Immunodeficiency 7	Patchy alopecia, Vitiligo	OMIM:615387
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the skin, Dry skin, Increase...	ORPHA:94059
Hypohidrosis With Abnormal Palmar Dermal Ridges	Abnormal palmar dermal ridges, Decreased number of sweat glands	OMIM:241120
Omphalocele Syndrome, Shprintzen-Goldberg Type	Sparse lateral eyebrow, Downturned corners of mouth, Downslanted palpebral fissures, Hypoplasia o...	ORPHA:3164
Parkes Weber Syndrome	Lower limb muscle weakness, High-output congestive heart failure, Bounding pulse, Subarachnoid he...	ORPHA:90307
Copper Deficiency, Familial Benign	Failure to thrive, Seborrheic dermatitis, Curly hair, Anemia, Decreased circulating copper concen...	OMIM:121270
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Osteoporosis, Tracheomalacia, Bile duct proliferation, Ataxia	OMIM:203700
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Abdominal distention, Hepatitis, Intrauterine growt...	ORPHA:436252
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p...	OMIM:277170
Ring Chromosome 13 Syndrome	Alopecia, Abnormality of the incisor, Short philtrum, Abnormality of skin pigmentation, High pala...	ORPHA:96176
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bifid tongue, Bilateral cleft palate	ORPHA:2001
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Tongue atrophy, Ankle clonus	OMIM:211530
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Wide nasal bridge, Dry hair, Mongolian blue spot, Low anterior hairline, Epicanthus, Microcephaly	OMIM:618569
Senior-Boichis Syndrome	Esophageal varix	ORPHA:84081
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Anterior pitu...	ORPHA:67045
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, Narrow mouth, Jejunal atresia, ...	ORPHA:989
Microphthalmia, Syndromic 3	Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio...	OMIM:206900
Meckel Syndrome	Optic atrophy, Microcornea, Cataract, Postaxial foot polydactyly, Preaxial hand polydactyly, Micr...	ORPHA:564
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Arteriosclerosis, Cachexia	ORPHA:220295
Mend Syndrome	Aortic valve stenosis, Cataract, Failure to thrive, Crossed fused renal ectopia, Cryptorchidism, ...	OMIM:300960
Feingold Syndrome 1	Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestinal atresia, High pa...	OMIM:164280
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Developmental And Epileptic Encephalopathy 100	Hypoplastic fingernail, Elbow flexion contracture, Gingival overgrowth, Tented upper lip vermilio...	OMIM:619777
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Narrow mouth, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Townes-Brocks Syndrome	Hearing impairment, Failure to thrive, Limbal dermoid, Abnormal tragus morphology, Blepharophimos...	ORPHA:857
Phakomatosis Pigmentokeratotica	Melanocytic nevus, Hypophosphatemic rickets, Pheochromocytoma, Cryptorchidism, Patchy alopecia, H...	ORPHA:2874
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Inhalational Anthrax	Abnormal sweat gland morphology, Hypotension, Internal hemorrhage	ORPHA:247257
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Otosclerosis, Limitation of joint mobility, Umbilical hernia, Camp...	ORPHA:217085
Juvenile Xanthogranuloma	Abnormal oral mucosa morphology, Asymmetry of iris pigmentation, Proptosis, Multiple cafe-au-lait...	ORPHA:158000
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Failure to thrive, Dry skin, Splenomegaly, Hypodontia, Aplasia of the sweat glands...	OMIM:612132
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog...	OMIM:194300
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Talipes equinovarus, Aggressive behavior, Ataxia,...	OMIM:616393
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Otosclerosis, Limitation of joint mobility, Umbilical hernia, Camp...	ORPHA:217093
Digeorge Syndrome	Cholelithiasis, Umbilical hernia, Obesity, Inguinal hernia, Hypocalcemia, Hepatic steatosis, Sple...	OMIM:188400
Coccidioidomycosis	Atypical scarring of skin, Abnormality of the vertebral column, Osteomyelitis, Broad ribs, Arthri...	ORPHA:228123
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatoblastoma, Cholangiocarcinoma, Fat ...	ORPHA:731
Pneumocystosis	Weight loss	ORPHA:723
Familial Visceral Myopathy	Abdominal situs inversus, Umbilical hernia, Camptodactyly of finger, Arachnodactyly, Aplasia/Hypo...	ORPHA:2604
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Hawkinsinuria	Microcephaly, Sparse hair, Failure to thrive, Hypertyrosinemia	OMIM:140350
Craniorachischisis	Bifid sternum, Sirenomelia, Congenital diaphragmatic hernia, Omphalocele, Anal atresia	ORPHA:63260
Hyperthyroidism, Nonautoimmune	Proptosis, Small for gestational age, Increased circulating thyroglobulin concentration	OMIM:609152
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Umbilical hernia, Protruding tongue, Inguinal hernia, Joint hypermobility,...	OMIM:617062
Ovarian Fibroma	Abdominal pain, Peritonitis, Abdominal distention, Mesenteric cyst	ORPHA:314473
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Knee flexion contracture	OMIM:619708
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Metachromatic Leukodystrophy, Juvenile Form	Progressive gait ataxia, Cholecystitis, Muscle weakness, Abdominal distention	ORPHA:309263
1Q21.1 Microdeletion Syndrome	Long philtrum, Ankyloglossia, Inguinal hernia, Cryptorchidism, Joint hypermobility, High palate	ORPHA:250989
Systemic Lupus Erythematosus	Alopecia, Hemolytic anemia, Leukopenia, Oral ulcer, Hypertension, Weight loss, Lymphadenopathy, T...	ORPHA:536
Chand Syndrome	Commissural lip pit, Nail dysplasia, Ankyloblepharon, Curly hair	OMIM:214350
Ovarian Fibrothecoma	Abdominal pain, Peritonitis, Abdominal distention, Hirsutism	ORPHA:314478
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Gonadoblastoma	Abdominal pain, Abdominal distention, Hirsutism	ORPHA:206484
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myelofibrosis, Myeloprolife...	OMIM:254450
Familial Multiple Nevi Flammei	Arrhythmia, Pulmonary embolism, Intracranial hemorrhage, Abnormality of the upper limb	ORPHA:624
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Letterer-Siwe Disease	Fever, Hepatosplenomegaly, Abdominal distention, Jaundice, Stomatitis	OMIM:246400
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Trichotillomania	Alopecia	OMIM:613229
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Chorioretinal scar, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular...	ORPHA:91500
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Distal lower limb amyotrophy, Distal arthrogryposis, Esophageal atresi...	ORPHA:506358
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Iniencephaly	Rhizomelia, Absent vertebra, Narrow mouth, Congenital diaphragmatic hernia, Orofacial cleft, Hype...	ORPHA:63259
Bartter Syndrome Type 4	Hyperaldosteronism, Protruding ear, Bilateral sensorineural hearing impairment, Hyperactive renin...	ORPHA:89938
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Aspartylglucosaminuria	Platyspondyly, Cataract, Spondylolysis, Acne, Aspartylglucosaminuria, Spondylolisthesis, Mitral r...	OMIM:208400
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism	ORPHA:743
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Malt Lymphoma	Abnormality of the thyroid gland, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Renal Agenesis, Bilateral	Abnormal sacrum morphology, Nonketotic hypoglycemia, Non-midline cleft of the upper lip, Cleft pa...	ORPHA:1848
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth	OMIM:103300
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Colonic Atresia	Abnormal mesentery morphology, Abdominal situs inversus, Omphalocele, Abdominal distention	ORPHA:1198
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Argininosuccinic Aciduria	Dry hair, Failure to thrive, Trichorrhexis nodosa, Hyperammonemia, Increased circulating arginino...	OMIM:207900
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue	OMIM:619580
Retinoblastoma	Cellulitis, Proptosis, Abnormality of retinal pigmentation, Heterochromia iridis, Leukemia, Cleft...	ORPHA:790
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Microvillus Inclusion Disease	Diarrhea, Abdominal distention, Hypovolemia	ORPHA:2290
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy	ORPHA:99949
Cystic Fibrosis	Cor pulmonale, Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Steatorrhea, Clubbing of fingers	OMIM:219700
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism	ORPHA:31
Orofaciodigital Syndrome Type 14	Lobulated tongue, Bilateral cryptorchidism, Hamartoma of tongue, Aplasia of the epiglottis, Bifid...	ORPHA:434179
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Cryptorchidism, Aplasia of t...	OMIM:615948
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Horizontal ribs, Short ribs, Short clavicles, Aplasia of the epiglottis, Supernumer...	OMIM:617088
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity	OMIM:150800
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233710
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Abdominal distention	OMIM:619365
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233690
Behcet Syndrome	Patchy alopecia, Oral ulcer, Arthritis	OMIM:109650
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granul...	OMIM:306400
Mowat-Wilson Syndrome	Vomiting, Supernumerary nipple, Abnormal heart morphology, Ventricular septal defect, Broad eyebr...	OMIM:235730
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Oligodontia, Sparse axillary hair, Absent eyebrow, Sparse scal...	OMIM:608615
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Woolly Hair-Skin Fragility Syndrome	Woolly hair	OMIM:620415
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Flexion contracture, Protruding tongue, Distal arthrogryposis	ORPHA:98889
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla, Oligodontia, Thin upper lip vermilion, Hypodontia, ...	OMIM:180500
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Enuresis nocturna, Pollakisuria, Kyphosis	ORPHA:171629
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Long philtrum, Cleft upper lip, Absent or minimally ossified v...	ORPHA:93271
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia	OMIM:273395
Niemann-Pick Disease, Type C1	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257220
Niemann-Pick Disease, Type C2	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:607625
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Enamel hypoplasia, Nail dystrophy, Abdominal distention	ORPHA:79403
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hydrocele testis, Pulmonary embolism	ORPHA:567546
Penile Agenesis	Depressed nasal bridge, Posteriorly rotated ears, Short nose	ORPHA:49
Plague	Inflammation of the large intestine, Chapped lip, Ileitis, Enterocolitis, Arthritis, Glossitis, A...	ORPHA:707
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Pulmonary venous hypertension	ORPHA:3202
Fraser Syndrome 2	Cutaneous syndactyly, Abdominal distention, Low anterior hairline	OMIM:617666
Kasabach-Merritt Phenomenon	Abdominal pain, Hepatic hemangioma, Abdominal distention, Hypertrichosis	ORPHA:2330
Overhydrated Hereditary Stomatocytosis	Pulmonary embolism	OMIM:185000
Atresia Of Urethra	Pulmonary insufficiency, Abdominal distention	ORPHA:105
Currarino Syndrome	Gastrointestinal obstruction, Chronic constipation, Abdominal distention	OMIM:176450
Paroxysmal Nocturnal Hemoglobinuria	Impotence, Pulmonary embolism, Esophageal spasms, Budd-Chiari syndrome, Hypertension, Odynophagia...	ORPHA:447
Multicystic Dysplastic Kidney	Hypertension, Abdominal distention	ORPHA:1851

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lmna

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lmna.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Lmna^G609G	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	LmnaG609G	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Lmna^G609G	PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Lmna^G609G	PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Lmna^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Lmna^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Lmna^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lmna MGI:96794

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

DSS Histology

X-ray

Anti-nuclear antibody assay

X-ray

Ear epidermis immunophenotyping

Immunophenotyping

Immunophenotyping

Human diseases caused by Lmna mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data