Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Raf1 MGI:97847

Gene Summary

Name:

v-raf-leukemia viral oncogene 1

Synonyms:

Craf1, v-Raf, 6430402F14Rik, c-Raf, Raf-1, sarcoma 3611 oncogene

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
cataract	Raf1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.20×10^-05
abnormal lens morphology	Raf1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.20×10^-05
preweaning lethality, complete penetrance	Raf1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Human diseases caused by Raf1 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 Raf1 (6 diseases)
Human diseases predicted to be associated with Raf1 (1470 diseases)

The table below shows human diseases associated to Raf1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Abnormality of neutrophils	ORPHA:154
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Noonan Syndrome 5	Atrial septal defect, Large for gestational age, Hypertelorism, Macrocephaly, Arrhythmia, Dolicho...	OMIM:611553
Leopard Syndrome 2	Hypertelorism, Hypertrophic cardiomyopathy, Dolichocephaly	OMIM:611554
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Noonan Syndrome	Hepatomegaly, Abnormal pulmonary valve morphology, Hypertelorism, Abnormality of the spleen, Apla...	ORPHA:648

The table below shows human diseases predicted to be associated to Raf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Trichomegaly	Cataract	OMIM:190330
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Cataract 7	Developmental cataract	OMIM:115660
Craniosynostosis 1	Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Galactosemia Iv	Cataract	OMIM:618881
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Nathalie Syndrome	Cataract	ORPHA:2663
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Cataract 47	Microcornea, Cataract	OMIM:612018
Barth Syndrome	Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis	ORPHA:111
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Galactosemia Ii	Cataract	OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy, Microcephaly	OMIM:251220
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
X-Linked Retinoschisis	Cataract	ORPHA:792
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Microcephaly	ORPHA:2515
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Microcephaly, Dilated cardiomyopathy, Decreased body weight	OMIM:618097
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur...	OMIM:616198
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Abnormality of neutrophils	ORPHA:154
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe...	OMIM:300580
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus...	OMIM:619903
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block...	ORPHA:398124
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle...	OMIM:612937
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal placenta m...	ORPHA:439167
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Dpm3-Cdg	Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes...	ORPHA:263494
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Microcephaly, Broad skull, Thrombocytopenia, Heart...	ORPHA:163979
Nathalie Syndrome	Cataract	OMIM:255990
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Pallor	ORPHA:46532
Macrocephaly, Benign Familial	Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly	OMIM:153470
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art...	OMIM:161800
Macrocephaly/Autism Syndrome	Speech apraxia, Hepatomegaly, Frontal bossing, Large for gestational age, Splenomegaly, Obesity, ...	OMIM:605309
Cardiac Lipidosis, Familial	Congestive heart failure, Microcephaly, Cardiomyopathy	OMIM:212080
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated...	OMIM:618805
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity	OMIM:615981
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Weill-Marchesani Syndrome 1	Ventricular septal defect, Broad skull, Brachycephaly, Mitral regurgitation, Pulmonic stenosis, S...	OMIM:277600
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive	OMIM:619651
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Intellectual Disability, Buenos-Aires Type	Microcephaly, Fine hair, Abnormal calvaria morphology, Abnormal cardiac septum morphology, Bipari...	ORPHA:3079
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F...	OMIM:619644
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Microcephaly, Obesity, Weight loss, Hypertrophic cardiomyopathy,...	ORPHA:251071
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Gm1-Gangliosidosis, Type I	Frontal bossing, Hepatomegaly, Abnormal heart valve morphology, Hypertelorism, Congestive heart f...	OMIM:230500
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Microcephaly, Secundum atrial septal defect,...	ORPHA:1600
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly, Spastic tetraplegia, Macrocephaly	OMIM:300886
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Microcephaly, Hypertelorism, Splenomegaly, Flexion contracture, Cardiomyopathy, Joi...	OMIM:608540
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia	OMIM:618815
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Broad skull, Elbow flexion contracture, Brac...	OMIM:608328
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Abnormal mitral valve morphology, Microcephaly, Brachycephaly, Biparietal narrow...	ORPHA:1292
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Microcephaly, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy...	OMIM:615084
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin...	OMIM:619565
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly	ORPHA:261190
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Coccidioidomycosis	Pericarditis, Eosinophilia, Abscess, Broad skull, Abnormality of the spleen, Vasculitis, Mediasti...	ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Wide nasal bridge	ORPHA:2229
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Macrovesicular hepat...	OMIM:600649
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Optic atrophy, Growth delay, Respiratory fai...	OMIM:619057
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomyopathy	OMIM:620270
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
1Q44 Microdeletion Syndrome	Frontal bossing, Microcephaly, Synophrys, Abnormal cardiac septum morphology, Biparietal narrowing	ORPHA:238769
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Secondary mi...	OMIM:619167
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Joubert Syndrome	Ataxia, Highly arched eyebrow, Situs inversus totalis, Tremor, Biparietal narrowing, Oculomotor a...	ORPHA:475
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Hypertelorism, Dilated cardiomyopathy, Hypertension, Deeply set eye, Ischemi...	ORPHA:280679
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Microcephaly, Biparietal narrowing, Atrial septal defect, Genera...	ORPHA:1915
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Microcephaly, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy,...	ORPHA:352447
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Cardiofaciocutaneous Syndrome	Frontal bossing, Brittle hair, Abnormal heart valve morphology, Slow-growing hair, Failure to thr...	ORPHA:1340
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
3Q29 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Microcephaly, Obesity, Biparietal narrowing, Macroce...	ORPHA:251038
Lig4 Syndrome	Hepatomegaly, Telangiectasia of the skin, Microcephaly, Low anterior hairline, Brachycephaly, Bip...	ORPHA:99812
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Joubert Syndrome With Ocular Defect	Ataxia, Dextrocardia, Highly arched eyebrow, Tremor, Biparietal narrowing, Oculomotor apraxia	ORPHA:220493
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute...	ORPHA:73272
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Biparietal narrowing, Abnormal hair pattern	ORPHA:1770
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Nphp3-Related Meckel-Like Syndrome	Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia...	ORPHA:3032
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ...	OMIM:620135
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, D...	OMIM:607317
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lowe...	ORPHA:309169
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
16Q24.3 Microdeletion Syndrome	Frontal bossing, Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Dilated...	ORPHA:261250
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Abnormality of ex...	ORPHA:79262
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Small for gest...	ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Microcephaly, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endom...	OMIM:602541
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Abnormal hair pattern, Microcephaly, Tremor, Cachexia, Synophrys, Obesit...	ORPHA:85293
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Tricuspid regurgitation, Highly arched eyebrow, Absent eyelashes, Biparietal narrowing, Thick eye...	ORPHA:228396
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, Lymphadenitis, Dilated cardiomyo...	OMIM:615895
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Sandhoff Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Macrocephaly, Failure to thrive	ORPHA:796
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Rhabdomyolysis, Dilated cardiomy...	OMIM:300842
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Ascit...	OMIM:269920
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Dilated cardiomyopathy	ORPHA:79230
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Mucolipidosis Type Iv	Aplasia/Hypoplasia of the abdominal wall musculature, Ataxia, Biparietal narrowing, Microcephaly	ORPHA:578
Non-Distal Deletion 10Q	Synophrys, Ataxia, Biparietal narrowing	ORPHA:1581
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Microcephaly, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis...	OMIM:613989
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoplasia of the musculature, High...	ORPHA:231226
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Aniridia 3	Aniridia, Cataract	OMIM:617142
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardiomegaly, Synophrys, Long eyelas...	OMIM:619064
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM...	ORPHA:99901
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Ataxia, Portal hypertension, Highly arched eyebrow, Tremor, Splenomegaly, Biparieta...	ORPHA:1454
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Pellagra-Like Syndrome	Cataract	OMIM:260650
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
Isolated Atp Synthase Deficiency	Hepatomegaly, Microcephaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:254913
Orofaciodigital Syndrome Type 6	Frontal bossing, Ataxia, Highly arched eyebrow, Tremor, Abnormal heart morphology, Biparietal nar...	ORPHA:2754
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Codas Syndrome	Atrial septal defect, Broad skull, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hypertrophic ...	OMIM:611126
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Frontal bossing, Atrial septal defect, Bicuspid aortic valve, Ven...	OMIM:619343
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Hypertonia, Biparietal narrowing, Microcephaly	ORPHA:2518
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Hypoplasia of the musculature, Anem...	ORPHA:231214
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Cataract 24	Anterior polar cataract	OMIM:601202
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Microcephaly, Limb-girdle muscle weakness, Flexion contr...	OMIM:609308
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Growth delay, Pallor	OMIM:613561
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Failure to thrive, Thrombocytopenia, Microcephaly	ORPHA:67048
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios	ORPHA:397590
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis...	OMIM:613313
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Vici Syndrome	Lymphopenia, Left ventricular hypertrophy, Microcephaly, Hypertelorism, Congestive heart failure,...	OMIM:242840
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Microcephaly, Centrally nucleated skeletal muscle ...	ORPHA:401768
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Microcephaly	OMIM:616647
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Hypertelorism, Dilated cardiomyopathy, Abnormal left ventricle morphology, H...	OMIM:300845
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Mulibrey Nanism	Frontal bossing, Hepatomegaly, Cardiomegaly, Hypertelorism, Congestive heart failure, Myocardial ...	OMIM:253250
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Craniosynostosis, Cardiomegaly	ORPHA:88643
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Hypertelorism, Mitral regurgitation, Abnormal cardiac septum morpholog...	ORPHA:83473
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Hypertelorism, Polymorphic ventricular t...	ORPHA:37553
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Abnormal calvaria morphology, Biparietal narrowing, Low posterior hairline	ORPHA:1323
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect, Spasticity, Limb hypertonia	OMIM:619170
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Macrocephaly	OMIM:611808
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Joubert Syndrome With Renal Defect	Ataxia, Highly arched eyebrow, Tremor, Biparietal narrowing, Oculomotor apraxia	ORPHA:220497
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Microcephaly, Limb-girdle muscle weakness, Cardiomyopath...	OMIM:615352
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp...	ORPHA:401923
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Chol...	OMIM:609015
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Microcephaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Midface retrusion	OMIM:615119
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Microcephaly, Camptodac...	ORPHA:99776
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy, Hepatic fibro...	OMIM:232400
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor	OMIM:615631
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:1832
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Pallor, Intrauter...	OMIM:266200
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death, Downslante...	OMIM:611890
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Dolichocephaly, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Spasticity, Bradycardia, Dystonia,...	OMIM:614702
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Noonan Syndrome 11	Relative macrocephaly, Hypertelorism, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardi...	OMIM:618499
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Microcephaly, Thrombocytopenia, Jaundic...	ORPHA:858
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Hypertelorism, Secondary microc...	OMIM:618652
Short Stature, Microcephaly, And Endocrine Dysfunction	Microcephaly, Long nose, Dilated cardiomyopathy, Hypotelorism, Truncal obesity, Deeply set eye, L...	OMIM:616541
Short Chain Acyl-Coa Dehydrogenase Deficiency	Microcephaly, Cardiomyopathy, Myopathy, Failure to thrive, Hepatic steatosis	ORPHA:26792
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent...	ORPHA:90064
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Isotretinoin Syndrome	Biparietal narrowing	ORPHA:2305
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ...	OMIM:212112
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Tetraploidy	Biparietal narrowing, Microcephaly	ORPHA:3305
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Turricephaly, Microcephaly, Biparietal narrowing, Sparse hair	ORPHA:1005
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ...	ORPHA:276435
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased ...	ORPHA:86812
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Thrombocytopenia, Splenomegaly, Cardiomyopathy, Neutropenia, Failure to thrive, Pan...	ORPHA:79312
Cataract 48	Cataract	OMIM:618415
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Cardiac arrest, Microcephaly, Leukocytosis, Dilated cardiomyopa...	ORPHA:20
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe...	OMIM:614921
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Oligohydramnios	ORPHA:163596
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol...	OMIM:256550
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra...	ORPHA:521406
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani...	ORPHA:3260
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Microvesicular hepatic steatosis, Cardiomyo...	OMIM:212140
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Microcephaly	OMIM:618348
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death, Rod-cone ...	OMIM:610127
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy, Anemia	OMIM:608068
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Microvesicular hepatic steatosis, Muscular ventricular septal defect, Dila...	ORPHA:66634
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor	ORPHA:75563
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertelorism, Hypertrophic cardiomyopathy, Failure to thrive, Mi...	OMIM:618378
Congenital Heart Block	Premature birth, Patent ductus arteriosus, Hydrops fetalis, Vaginal birth after Caesarian, Pallor...	ORPHA:60041
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Congenital Varicella Syndrome	Cataract	ORPHA:291
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Peho Syndrome	Microcephaly, Flexion contracture, Biparietal narrowing, Arthrogryposis multiplex congenita, Midf...	ORPHA:2836
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophi...	OMIM:616651
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro...	OMIM:605676
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Microcephaly, Flexion contracture, Abnormal left ventricular function, Cardiomyopat...	OMIM:613155
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
Childhood-Onset Nemaline Myopathy	Scapular winging, Hypertelorism, Flexion contracture, Increased muscle lipid content, Generalized...	ORPHA:171439
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Toluene Embryopathy	Biparietal narrowing, Microcephaly	ORPHA:1920
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hepatic steatosis, Decreased proportion of C...	OMIM:619573
Lathosterolosis	Hepatomegaly, Microcephaly, Myoclonus, Biparietal narrowing, Failure to thrive	ORPHA:46059
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Hypertelorism, Flexion contracture, Cardiomyopathy, Facial...	ORPHA:171433
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Decreased hepatic echogenicity, Failure to thrive, Increased variability in muscl...	OMIM:613752
Hyperekplexia 4	Umbilical hernia, Respiratory failure	OMIM:618011
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre...	ORPHA:254875
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Secondary microcephaly, Bradycardia	OMIM:610768
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Hypertonia, Biparietal narrowing	ORPHA:2031
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria	OMIM:252920
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Joubert Syndrome With Oculorenal Defect	Ataxia, Biparietal narrowing, Highly arched eyebrow	ORPHA:2318
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Ataxia, Cachexia, Cardiomegaly, Myopathy, Distal arthrogry...	ORPHA:42
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Craniosynostosis, Hyperteloris...	ORPHA:3342
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Microcephaly, Hypertelorism, Atrial sep...	OMIM:300887
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc...	OMIM:618886
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira...	OMIM:245400
Joubert Syndrome 32	Frontal bossing, Hypertelorism, Large for gestational age, Macrocephaly, Hypertrophic cardiomyopathy	OMIM:617757
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Microcephaly, Dilated cardiomyopathy, Increased muscle lipid content,...	OMIM:608836
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Sweet Syndrome	Acute myeloid leukemia, Myositis, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lym...	ORPHA:3243
Distal 22Q11.2 Microduplication Syndrome	Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Mic...	ORPHA:261337
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ...	OMIM:615688
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Noonan Syndrome 8	Relative macrocephaly, Left ventricular hypertrophy, Ventricular septal defect, Large for gestati...	OMIM:615355
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Chorioretinal dystrophy, Dyspnea, ...	ORPHA:2707
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive	OMIM:617585
Dystonia 28, Childhood-Onset	Torticollis, Microcephaly, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spas...	OMIM:617284
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Pancytopenia	OMIM:618321
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature	OMIM:600561
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Hypertelorism, Tetralogy o...	OMIM:612561
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Developmental And Epileptic Encephalopathy 75	Hypertelorism, Wide nasal bridge, Cardiomyopathy, Proptosis, Secondary microcephaly, Prolonged ne...	OMIM:618437
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Alstrom Syndrome	Hepatomegaly, Chronic active hepatitis, Congestive heart failure, Dilated cardiomyopathy, Hyperte...	OMIM:203800
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Microcephaly, Tremor, Spasticity	OMIM:278780
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Hemochromatosis, Type 4	Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia	OMIM:606069
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis	ORPHA:848
Mohr-Tranebjaerg Syndrome	Tremor, Intrinsic hand muscle atrophy, Abnormal posturing, Dystonia, Spasticity	OMIM:304700
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Cardiomegaly, Microcephaly, Hypertelorism, ...	OMIM:616897
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm...	OMIM:619051
Hemochromatosis, Type 3	Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Relapsing Polychondritis	Abnormal endocardium morphology, Pericarditis, Alopecia, Myocarditis, Large vessel vasculitis, Ab...	ORPHA:728
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Macrocytic anemia, Failure to thrive	OMIM:619046
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Pelger-Huet Anomaly	Frontal bossing, Ventricular septal defect, Abnormality of neutrophils, Hypertelorism, Thrombocyt...	OMIM:169400
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre...	OMIM:128100
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Ptosis	OMIM:618637
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration	OMIM:615234
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Microcephaly, Megaloblastic anemia, Jaundice, Dilated cardiomyopathy, Subdura...	ORPHA:79282
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re...	ORPHA:550
Leigh Syndrome	Ptosis, Optic atrophy, Respiratory insufficiency, Pigmentary retinopathy, Respiratory failure, Ab...	OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal de...	OMIM:619003
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai...	OMIM:300952
Immunodeficiency 54	Recurrent respiratory infections, Short stature, Postnatal growth retardation, Respiratory insuff...	OMIM:609981
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor	ORPHA:507
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis, Abnormal abdomen morphology	OMIM:105120
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Le...	ORPHA:251282
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Skeletal muscle atro...	OMIM:268800
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red...	ORPHA:254892
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276580
Hyperphenylalaninemia, Bh4-Deficient, C	Microcephaly, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Linear Nevus Sebaceus Syndrome	Frontal bossing, Alopecia, Prominent occiput, Plagiocephaly, Biparietal narrowing	ORPHA:2612
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Cardiomegaly, Microcephaly, Poor coordination, Spastic diplegia, Choreoathe...	ORPHA:391428
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Abnormal cardiac ventricular function, Microcephaly, Cardiomyopathy, Failure to thrive	ORPHA:2394
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Hypertelorism, Heart block, Microcephaly, Premature ventricular contraction, Bacterial endocarditis	ORPHA:1964
Ohdo Syndrome, Sbbys Variant	Prominent occiput, Dilated cardiomyopathy, Microcephaly	OMIM:603736
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Microcephaly, ...	OMIM:201475
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m...	OMIM:619705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Optic atrophy, Respiratory insufficiency	OMIM:615330
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Hypertelorism, Congestive h...	OMIM:314400
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Failur...	OMIM:615285
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy, Fai...	ORPHA:71212
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cantu Syndrome	Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for gestational...	OMIM:239850
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Cardiomegaly	OMIM:613576
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu...	OMIM:619433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Trichohepatoenteric Syndrome 1	Hepatomegaly, Short stature, Polyhydramnios, Large placenta, Abnormality of the pancreas, Splenom...	OMIM:222470
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Thrombocytopeni...	OMIM:606003
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, Abnormal pyrami...	ORPHA:397946
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Dilated ca...	OMIM:607459
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Optic Atrophy 1	Pallor	OMIM:165500
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Microcephaly, Rigidity, Splenomegaly, Tremor, Dystonia	OMIM:615010
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency	ORPHA:370968
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bra...	ORPHA:70594
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios	ORPHA:254534
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus...	ORPHA:555874
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ...	ORPHA:329478
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Restrictive Dermopathy	Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o...	ORPHA:1662
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia...	ORPHA:824
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A...	ORPHA:231222
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Dysto...	ORPHA:225147
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Congestive heart failure, Babinski sign, Limb ataxia, Gait ataxia, Clumsine...	OMIM:619259
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Microcephaly, Tremor, Rigidity, Choreoathetosis,...	OMIM:261640
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Cardiomyopathy, Leukopenia, Pancreatitis, Anemia	ORPHA:27
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Necrotizing Enterocolitis	Shock, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycard...	ORPHA:391673
Anemia, Congenital Dyserythropoietic, Type Iv	Frontal bossing, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemol...	OMIM:613673
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Decreased body weight, Fail...	ORPHA:89842
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Severe short stature, Respiratory insufficiency	OMIM:313420
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Small for gestational age, Cardiomegaly, Hypertension, Pulmonary arterial hypert...	OMIM:613320
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Ascites, Cirrho...	OMIM:232500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a...	OMIM:607458
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Ventricular septal defect, Congenital diaphragmatic hernia, Microcephal...	ORPHA:818
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Chorea, Ri...	ORPHA:268
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight...	OMIM:164310
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Pallor	ORPHA:56425
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Pulmonary arterial hypertension, Abnormal posturing, Failure to thrive	OMIM:614857
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Card...	OMIM:105210
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat...	ORPHA:465508
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Rod-cone dystrophy, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pallor	OMIM:613839
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Increased muscle lipid conte...	ORPHA:565612
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Sandestig-Stefanova Syndrome	Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Respiratory failure, Intrauterine ...	OMIM:618804
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Respiratory failure, Congenital alopecia totalis,...	ORPHA:158687
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Low anterior hairline, Atrial sep...	ORPHA:363705
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Microcephaly, Congestive heart failure, Thrombocytopenia, Flexion contracture, Sple...	OMIM:617303
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Hype...	ORPHA:363400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Noonan Syndrome 5	Atrial septal defect, Large for gestational age, Hypertelorism, Macrocephaly, Arrhythmia, Dolicho...	OMIM:611553
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Leukocytosis,...	ORPHA:829
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Intracranial he...	ORPHA:3226
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Hypermanganesemia With Dystonia 2	Limb dystonia, Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Microcephaly...	OMIM:617013
Unilateral Polymicrogyria	Epistaxis, Involuntary movements, Microcephaly, Spastic tetraplegia, Abnormal heart morphology, H...	ORPHA:268943
Tangier Disease	Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr...	OMIM:205400
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Failure to thrive, ...	OMIM:251000
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Babesiosis	Hemolytic anemia, Hepatomegaly, Myocardial infarction, Congestive heart failure, Jaundice, Spleno...	ORPHA:108
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Pulmonar...	ORPHA:70588
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Flat occiput, Ankle flexion contracture, Hypertelorism, Splenomegaly, Knee flexion ...	OMIM:608799
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Neu-Laxova Syndrome 1	Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Patent ductus ar...	OMIM:256520
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Microcephaly, Thrombocytopenia, Splenomegaly, Jaundice, ...	ORPHA:290
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Propionic Acidemia	Hepatomegaly, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neutropenia,...	OMIM:606054
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H...	OMIM:602782
Alpha-N-Acetylgalactosaminidase Deficiency	Spasticity, Clonus, Tetraplegia, Cardiomegaly	ORPHA:3137
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio...	OMIM:230800
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Flexion contracture, Cardiac arrest	ORPHA:77260
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir...	ORPHA:79301
Hypermethioninemia Due To Adenosine Kinase Deficiency	Frontal bossing, Skeletal muscle atrophy, Hypertelorism, Secundum atrial septal defect, Cholestas...	OMIM:614300
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Microcephaly, Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies	OMIM:616549
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Evans Syndrome	Jaundice, Pallor, Petechiae	ORPHA:1959
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, ...	OMIM:182410
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Epicanthus, Dyspnea, Respiratory failure,...	ORPHA:2759
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
Hurler Syndrome	Aortic regurgitation, Frontal bossing, Hepatomegaly, Hypertelorism, Splenomegaly, Cranial hyperos...	OMIM:607014
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Hypertelorism, Secundum atrial septal defect, Congestive heart failure, ...	OMIM:616866
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Respiratory insufficiency, Respiratory failure, Neonatal death, Ptosis	OMIM:618186
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocarditis, Leukocytosis, T...	ORPHA:292
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor, Hepatosplenomegaly	OMIM:611590
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Microcephaly, Tremor, Babinski ...	OMIM:300055
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Microcephaly, Cardiomegaly, Brachycephaly, Macrocephaly	OMIM:618798
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
1P36 Deletion Syndrome	Frontal bossing, Abnormal heart valve morphology, Camptodactyly of finger, Microcephaly, Abnormal...	ORPHA:1606
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, ...	ORPHA:349
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hern...	ORPHA:254528
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Ptosis	OMIM:312170
Stickler Syndrome, Type V	Cataract	OMIM:614284
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Skeletal muscle atrophy, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity...	OMIM:616719
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy	OMIM:252900
Myopathy With Extrapyramidal Signs	Hepatomegaly, Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Leukocytosis,...	OMIM:615673
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H...	ORPHA:255210
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Failure to thrive, Bicuspid aortic valve, Tremor	OMIM:617744
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Hypertelorism, Mitral valve...	ORPHA:555877
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Microcephaly, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased...	ORPHA:263455
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Microcephaly, Asplenia, Hypertelorism, Hypotelorism, Abdominal situs i...	OMIM:619123
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Biparietal narrowing, Fine hair	ORPHA:935
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension	ORPHA:767
Leopard Syndrome 2	Hypertelorism, Hypertrophic cardiomyopathy, Dolichocephaly	OMIM:611554
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Epicanthus, Neonatal respiratory distress, Apnea, Asthma, Pneum...	ORPHA:2257
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ...	ORPHA:2348
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Felty Syndrome	Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Weight loss, Lymphadenopathy, Bone ma...	ORPHA:47612
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi...	OMIM:620233
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu...	ORPHA:79083
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia, Pancreatitis	ORPHA:188
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Hypertelorism, Bicuspid pu...	ORPHA:3427
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy	OMIM:617713
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Pat...	OMIM:610505
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Ptosis, Restrictive ventilatory defect, Respiratory failure, E...	ORPHA:98913
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto...	ORPHA:67
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Pericardial effusion, Abnormal myocardium morphology, Hypersplenism, ...	ORPHA:77259
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis	OMIM:194380
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormal mitral valve morphology, Hypertension, Hypertonia, Tremor	ORPHA:1192
Kearns-Sayre Syndrome	Sideroblastic anemia, Microcephaly, Ragged-red muscle fibers, Cardiomyopathy, Third degree atriov...	OMIM:530000
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Greenberg Dysplasia	Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large...	OMIM:215140
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Abnormal posturing, Weight loss, Opisthotonus, Spasticity, Frequent falls	ORPHA:216866
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Hepatic steatosis, Cardiomegaly	OMIM:255120
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Microcephaly, Tremor, Spastic paraplegia, Babinski sign, Failure to thrive	ORPHA:477673
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dolichocephaly, Dense calvaria	OMIM:252930
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor	OMIM:246450
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Microcephaly, Dilated cardiomyopathy, W...	ORPHA:2556
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallor, Cholelithiasis	ORPHA:822
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A...	OMIM:212138
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ...	OMIM:604320
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Ventricular septal defect, Pericardial e...	OMIM:618775
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Achromatopsia 3	Cataract	OMIM:262300
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph...	OMIM:308240
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Waardenburg Syndrome Type 3	Telecanthus, Tracheomalacia, Atelectasis, White hair, Blepharophimosis, Downslanted palpebral fis...	ORPHA:896
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Craniosynostosis, Microcephaly, Congestive heart failure, Jaun...	ORPHA:525731
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Scaphoceph...	OMIM:309900
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Cachexi...	ORPHA:3452
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Cantú Syndrome	Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster...	ORPHA:1517
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Microcephaly, Thrombocytopenia, Splenomegaly, Vasculitis, Cardiomyopathy, Prolonged...	OMIM:225750
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Optic disc pallor	OMIM:618240
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Tachypnea, Respiratory failure, Death in childhood, Ptosis	OMIM:615838
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Respiratory failure	ORPHA:70472
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Hypertelorism, Tetralogy of Fallot, Heart murmur, Double ...	ORPHA:3426
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Small for gestational age...	ORPHA:84064
Mosaic Trisomy 16	Premature birth, Large placenta, Patent ductus arteriosus, Single umbilical artery, Intrauterine ...	ORPHA:1708
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Breath-Holding Spells	Pallor	OMIM:607578
C Syndrome	Failure to thrive in infancy, Abnormal hair pattern, Microcephaly, Congenital diaphragmatic herni...	ORPHA:1308
Developmental And Epileptic Encephalopathy 46	Tremor, Limb hypertonia, Failure to thrive, Microcephaly	OMIM:617162
Noonan Syndrome 2	Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Hypertelorism, Cardiomyopathy,...	OMIM:605275
Noonan Syndrome 3	Frontal bossing, Atrial septal defect, Juvenile myelomonocytic leukemia, Ventricular septal defec...	OMIM:609942
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ...	ORPHA:746
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Growth delay, Intrauterine growth retardation, Respiratory failure, Death in infancy	ORPHA:1194
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Kagami-Ogata Syndrome	Premature birth, Polyhydramnios, Postnatal growth retardation, Large placenta, Hepatoblastoma	ORPHA:254519
Sepsis In Premature Infants	Hepatomegaly, Premature birth, Splenomegaly, Jaundice, Decreased liver function, Pallor, Caesaria...	ORPHA:90051
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia, Hepa...	ORPHA:228305
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Microcephaly, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathet...	OMIM:618877
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Frontal bossing, Speech apraxia, Ventricular septal defect, Left ventricul...	OMIM:300967
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Kagami-Ogata Syndrome	Frontal bossing, Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion ...	OMIM:608149
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Legionnaires Disease	Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Optic atrophy, Congenital laryngeal stridor	ORPHA:2254
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Optic neuritis	ORPHA:71211
Perry Syndrome	Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Hypotension	ORPHA:178509
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Microcephaly, Splenomeg...	ORPHA:2585
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Hurler Syndrome	Frontal bossing, Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of...	ORPHA:93473
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Microcephaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hypertelorism, Hepatosp...	OMIM:608013
Juvenile Temporal Arteritis	Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia	ORPHA:26137
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosi...	OMIM:617710
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Failure to thrive, Reduced natur...	OMIM:616050
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Secundum atrial septal defect, Congestive heart failure, J...	OMIM:608779
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Relative macrocephaly, Frontal bossing, Hepatomegaly, Pancytopenia, Failure to thrive in infancy,...	OMIM:613385
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B...	OMIM:615157
Ataxia-Telangiectasia	Skeletal muscle atrophy, Hypopigmentation of hair, Telangiectasia of the skin, Ataxia, Tremor, Pr...	ORPHA:100
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T...	ORPHA:781
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Oculopharyngodistal Myopathy 4	Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var...	OMIM:619790
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co...	ORPHA:300298
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal...	ORPHA:99745
Gm1 Gangliosidosis	Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Sp...	ORPHA:354
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia...	ORPHA:508542
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar...	ORPHA:2463
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, La...	OMIM:249000
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Myocardial infarction, Microcephaly, Tremor, Overweight, Cranial hyperostosis, Hyperkinetic movem...	ORPHA:457240
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Prima...	ORPHA:445038
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Congestive heart failure, Splenomega...	ORPHA:579
Prolidase Deficiency	Hepatomegaly, Hypertelorism, Thrombocytopenia, Splenomegaly, Diffuse telangiectasia, Proptosis, P...	OMIM:170100
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly	ORPHA:773
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Leukodystrophy, Hypomyelinating, 6	Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:278000
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory...	OMIM:615636
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Microcephaly, Tremor, Head titubation, Spastic para...	OMIM:312080
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Frontal bossing, Facial palsy, Splenomegaly, Thrombocytopenia, Macrocephaly, Failur...	OMIM:615085
Proximal 16P11.2 Microduplication Syndrome	Frontal bossing, Sparse eyelashes, Congenital diaphragmatic hernia, Microcephaly, Sparse eyebrow,...	ORPHA:370079
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bilateral ptosis, Atelectasis, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Scrub Typhus	Splenomegaly, Myocarditis, Hypotension, Lymphadenopathy	ORPHA:83317
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Severe postn...	ORPHA:98905
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Microcephaly, Splenomegaly, Cholestasis, C...	OMIM:614576
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:607872
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor	ORPHA:348
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Hypertelorism, Erythroid hypoplasia, Reticulocytope...	OMIM:612528
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Hec Syndrome	Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis	ORPHA:2119
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy...	ORPHA:264580
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ...	OMIM:616733
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Decreased fetal movement, Mild postnatal growth retardation, Aplasia/Hypoplasia of ...	ORPHA:456312
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Short stature, Neonatal respiratory distress, Multiple pterygia, Abnorma...	ORPHA:2990
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary...	OMIM:220110
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Enlarged mesenteric...	OMIM:209950
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Jaundice, Pallor	ORPHA:90033
Bohring-Opitz Syndrome	Facial hypotonia, Trigonocephaly, Cardiomegaly, Microcephaly, Hypertelorism, Bilateral wrist flex...	ORPHA:97297
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath...	ORPHA:36412
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg...	OMIM:614008
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Severe short stature, Respiratory insufficiency, Pulmonary hypoplasia, D...	OMIM:224410
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly	ORPHA:331206
Elliptocytosis 1	Splenomegaly, Jaundice, Pallor	OMIM:611804
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Sparse eyebrow, Recurrent pneumonia, Optic at...	ORPHA:496641
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Lower limb spasticity, Parkinsonism, Tremor, Congestive heart failure, Obesity	ORPHA:3077
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Micronodular cirrhosis, Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle w...	ORPHA:98907
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Frontal bossing, Refractory anemia, Cachexia, Hypertelorism, Abnorma...	ORPHA:79076
Achondrogenesis Type 2	Retinal detachment, Short stature, Abnormal vitreous humor morphology, Cardiorespiratory arrest, ...	ORPHA:93296
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Pallor	ORPHA:98870
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Spina bifida occulta, Respiratory insufficiency due to muscle...	OMIM:618291
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Central hypoventilation, Optic atrophy, Apnea	OMIM:618233
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Diastasis recti, Craniosynostosis, Cardiomegaly, Hyperteloris...	OMIM:252500
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia, Ptosis	OMIM:617468
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Failure to thrive in infancy, Microcep...	OMIM:619418
Letterer-Siwe Disease	Jaundice, Pallor, Hepatosplenomegaly	OMIM:246400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Flat occiput, Ventricular septal defect, Thyroid lymphangiectasia, Hypertelorism, S...	OMIM:235255
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Pancreatic cysts, Splenom...	ORPHA:464329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Metatropic Dysplasia	Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp...	OMIM:156530
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Incoordination, Ventricular septal defect, Ataxia, Microcephaly, ...	OMIM:614947
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Microcephaly, Dilatation of the ventricular cavity, Card...	ORPHA:363623
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Narrow palpebral fissure, Stillbirth, Pulmonary hypoplasia, Neonatal death, Hydranencephaly	OMIM:236500
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Optic atrophy, Short stature, Pulmonary hypoplasia	OMIM:618174
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Mucopolysaccharidosis, Type Iiid	Frontal bossing, Hepatomegaly, Hypertelorism, Splenomegaly, Achilles tendon contracture, Elbow fl...	OMIM:252940
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch...	ORPHA:101330
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,...	OMIM:275210
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Myositis, Hepatomegaly, Myocarditis,...	ORPHA:809
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Anemia	OMIM:618839
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Pallor	ORPHA:90037
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Pulmonary Alveolar Microlithiasis	Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T...	ORPHA:60025
Spinocerebellar Ataxia Type 1	Respiratory failure, Optic atrophy	ORPHA:98755
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Thanatophoric Dysplasia	Respiratory insufficiency, Disproportionate short-limb short stature, Pulmonary hypoplasia, Intra...	ORPHA:2655
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Mogs-Cdg	Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Hepatosplenomegaly, Prominent occiput, Long eyel...	ORPHA:79330
Myelofibrosis	Splenomegaly, Pallor, Purpura	OMIM:254450
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Macr...	OMIM:557000
Diaphanospondylodysostosis	Increased nuchal translucency, Disproportionate short-trunk short stature, Abnormal liver lobulat...	OMIM:608022
Bloom Syndrome	Sparse eyelashes, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstructi...	ORPHA:125
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracr...	ORPHA:85212
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Microcephaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension,...	ORPHA:159
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Frontal bossing, Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Microcephaly, Hypertelo...	OMIM:613563
Pseudo-Torch Syndrome 1	Hepatomegaly, Microcephaly, Splenomegaly, Jaundice, Failure to thrive, Patent foramen ovale, Thro...	OMIM:251290
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice, Leukopenia, Hypot...	ORPHA:91547
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract	OMIM:601794
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Non-Functioning Paraganglioma	Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Weight loss, Palpita...	ORPHA:94080
Poikiloderma With Neutropenia	Frontal bossing, Hypertelorism, Splenomegaly, Telangiectasia, Leukopenia, Neutropenia, Short nose...	OMIM:604173
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta...	OMIM:616482
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Microcephaly, Hemateme...	OMIM:615846
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Dolichocephaly, Hypertelorism, Splenomegaly, Proptosis, Pulmonic stenosis,...	OMIM:115150
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia	OMIM:615524
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Short stature, Pallor	OMIM:609053
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Atelosteogenesis, Type Ii	Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:256050
Dravet Syndrome	Pallor	ORPHA:33069
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Fucosidosis	Frontal bossing, Hepatomegaly, Cardiomegaly, Hypertelorism, Splenomegaly, Flexion contracture, Va...	OMIM:230000
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Glycine Encephalopathy With Normal Serum Glycine	Apnea, Optic atrophy, Respiratory failure, Long eyelashes, Ptosis	OMIM:617301
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Optic atrophy	OMIM:616505
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Jaundice	OMIM:616483
Mucopolysaccharidosis Type 3	Cardiomegaly, Synophrys, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, Co...	ORPHA:581
Cranioectodermal Dysplasia 2	Cholangitis, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Cloverleaf skull, Hypertel...	OMIM:613610
Jaberi-Elahi Syndrome	Appendicular spasticity, Brittle hair, Sparse eyelashes, Microcephaly, Sparse eyebrow, Tremor, Dy...	OMIM:617988
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Leigh Syndrome	Ptosis, Alopecia, Optic atrophy, Growth delay, Respiratory failure, Abnormal optic nerve morpholo...	ORPHA:506
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec...	OMIM:620296
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Microcephaly, Parietal foramina...	OMIM:105650
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Abnormal myocardi...	ORPHA:228308
Severe Generalized Junctional Epidermolysis Bullosa	Failure to thrive, Dilated cardiomyopathy, Bradycardia, Anemia	ORPHA:79404
Choreoacanthocytosis	Hepatomegaly, Peroneal muscle atrophy, Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme ...	ORPHA:2388
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo...	ORPHA:99827
Alg1-Cdg	Respiratory failure	ORPHA:79327
Chops Syndrome	Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Obesity, Anomalous pulmonar...	OMIM:616368
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Growth delay, Pallor, Delayed puberty	OMIM:600462
Peroxisome Biogenesis Disorder 4A (Zellweger)	Upslanted palpebral fissure, Death in infancy, Epicanthus inversus, Respiratory failure	OMIM:614862
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Ptosis	OMIM:255320
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Johanson-Blizzard Syndrome	Hepatomegaly, Small for gestational age, Ventricular septal defect, Portal hypertension, Microcep...	OMIM:243800
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture...	OMIM:253220
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Ps...	OMIM:616586
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Weight loss, Chr...	ORPHA:71493
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Micronodular cirrhosis, Jaundice, ...	ORPHA:309854
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent p...	ORPHA:420741
Aicardi-Goutières Syndrome	Myositis, Extrapyramidal muscular rigidity, Dystonia, Multiple joint contractures, Cardiomegaly, ...	ORPHA:51
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice	OMIM:300908
Sandifer Syndrome	Hematemesis, Torticollis, Abnormal posturing	ORPHA:71272
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat...	ORPHA:209905
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive	OMIM:201470
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Waldenström Macroglobulinemia	Splenomegaly, Hepatomegaly, Pallor, Purpura	ORPHA:33226
Pearson Syndrome	Reticulocytosis, Hepatomegaly, Pancytopenia, Small for gestational age, Pancreatic fibrosis, Card...	ORPHA:699
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Failure to thrive in infancy, Microcep...	OMIM:601808
Beta-Ketothiolase Deficiency	Hepatomegaly, Pallor	ORPHA:134
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Progressive macrocephaly, Re...	ORPHA:25
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Tonne-Kalscheuer Syndrome	Short stature, Fine hair, Growth delay, Pulmonary hypoplasia, Downslanted palpebral fissures	OMIM:300978
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,...	OMIM:619991
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Short stature, Intercostal muscle weakness	OMIM:606071
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple...	OMIM:612387
Fumarase Deficiency	Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic cholestasis, Pallor, Hepatic failure	OMIM:606812
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Dolichocephaly, Splenomegaly, Flexion contracture, Cardiom...	OMIM:253200
Brucellosis	Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Lymphadenopathy,...	ORPHA:1304
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Postnatal growth retardation, Respiratory infections ...	ORPHA:96179
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Sma...	OMIM:614866
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Atelectasis, Respiratory distress	OMIM:300219
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Flat occiput, Ataxia, Small for gestational age, Tremor, Hypertension, Arrhythmia, Hypertrophic c...	OMIM:614052
Shigellosis	Failure to thrive in infancy, Abscess, Myocarditis, Leukocytosis, Rhabdomyolysis, Peritonitis, Ch...	ORPHA:810
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Myositis, Splenomegaly, Leukocytosis, Vasculitis, Peritonitis, Lymphadenopathy, Abn...	ORPHA:32960
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Tay-Sachs Disease	Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Dystonia, Hip flexor weakn...	ORPHA:845
Fibrodysplasia Ossificans Progressiva	Alopecia, Respiratory failure, Respiratory insufficiency	OMIM:135100
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Beckwith-Wiedemann Syndrome	Hepatomegaly, Premature birth, Redundant skin, Polyhydramnios, Large placenta, Splenomegaly, Abno...	ORPHA:116
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnorm...	OMIM:214500
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myositis, Abscess, Myocarditis, Peritonitis, Increased circulating myelocyte ...	ORPHA:36234
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp...	ORPHA:217085
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Alopecia, Short stature, Hyperkeratosis, Mild intrauterine growth retardation, Sti...	OMIM:308050
Short-Rib Thoracic Dysplasia 12	Epicanthus, Atelectasis, Anencephaly, Respiratory insufficiency, Pulmonary hypoplasia, Hypoplasti...	OMIM:269860
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short stature, Pulmonary hypoplasia, Death in infancy	OMIM:241800
Alternating Hemiplegia Of Childhood	Ataxia, Facial hypotonia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi...	ORPHA:2131
Neutral Lipid Storage Myopathy	Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur...	ORPHA:98908
Colchicine Poisoning	Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Hypotension, Cardiogenic shock,...	ORPHA:31824
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure	ORPHA:26791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Redundant neck skin, Premature birth, Short stature, Polyhydramnios, Postnatal grow...	ORPHA:96334
Camurati-Engelmann Disease	Frontal bossing, Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Splenomegaly, Leu...	ORPHA:1328
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Abnormal cardiovascular system p...	ORPHA:79086
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Snakebite Envenomation	Respiratory failure, Respiratory paralysis, Epistaxis	ORPHA:449285
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp...	ORPHA:217093
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Prominent occiput, Cardiomyo...	OMIM:130650
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ...	OMIM:617022
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Myocarditis, Cervical lymphadenopathy, Vasculitis, Thr...	ORPHA:50918
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Frontal bossing, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Congenital diaphragmatic ...	OMIM:245600
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Congestive heart...	OMIM:615512
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Flat occiput, Ventricular septal defect, Hypertelorism, Splenomegaly, Pancreatic ly...	ORPHA:1655
Mucopolysaccharidosis Type 6	Splenomegaly, Macroglossia, Failure to thrive, Abnormal heart valve morphology	ORPHA:583
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Congestive heart failure, Myopathy, ...	ORPHA:14
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Failure to thrive, Co...	OMIM:617388
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Dacryocystitis, Nonproductive cough, Pneumotho...	ORPHA:31204
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Short stature, Death in childhood	OMIM:619847
8P11.2 Deletion Syndrome	Hemolytic anemia, Microcephaly, Hypertelorism, Splenomegaly, Spherocytosis, Mitral valve prolapse...	ORPHA:251066
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,...	ORPHA:2331
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Pterygium, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:994
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Miscarriage, Respiratory insufficiency, Pulmonary hypoplasia...	ORPHA:1865
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Enlarged kidney, Melena, Ascites, Pancre...	OMIM:276700
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Microcephaly, Splenomegaly, Ragged-red muscle fibers, Prog...	OMIM:252010
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Frontal bossing, Microcephaly, Macrocephaly, Atrial septal defect, Right atrial enlargement	OMIM:615219
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Failure to thrive, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoi...	OMIM:613179
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Ataxia, Highly arched eyebrow, Cardiomegaly, Microceph...	OMIM:618143
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Iron deficiency anemia, Anemia	ORPHA:79408
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyeb...	ORPHA:634
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Hypermanganesemia With Dystonia 1	Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio...	OMIM:613280
Farber Disease	Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up...	ORPHA:333
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Pericardial effusion, Thrombocytopenia, S...	ORPHA:167
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Sec...	OMIM:618056
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Leukocytosis, Vasculitis, Lymphadenopathy, Increased ...	OMIM:617099
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Agenesis of pulmonary vessels, Alveolar capillary dysplasia,...	OMIM:601186
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Myoclonus, Right hemiplegi...	OMIM:607426
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Frontotemporal hypertrichosis, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:263210
Malignant Atrophic Papulosis	Pleural effusion, Abnormal optic nerve morphology, Respiratory failure, Ptosis	ORPHA:679
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Weight loss, Periodic paralysis	OMIM:613239
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure	OMIM:620327
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,...	ORPHA:117
S-Adenosylhomocysteine Hydrolase Deficiency	Growth delay, Respiratory failure, Abnormality of hair texture	ORPHA:88618
Nijmegen Breakage Syndrome	Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Sho...	ORPHA:647
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Flexion contracture of finger, Hepatomegaly, Camptodactyly of finger, Ca...	OMIM:256040
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head ...	ORPHA:99027
Hajdu-Cheney Syndrome	Hepatomegaly, Mitral stenosis, Ventricular septal defect, Hypertelorism, Splenomegaly, Wide nasal...	ORPHA:955
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Micronodular cirrhosis, Jaundice, ...	OMIM:251880
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Short stature, Optic atrophy, Growth delay, Respiratory failure, Stillbirth	OMIM:259720
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Degcags Syndrome	Hepatomegaly, Premature birth, Polyhydramnios, Echogenic fetal bowel, Breech presentation, Patent...	OMIM:619488
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Epicanthus, Pulmonary hypoplasia, Multiple pterygia	OMIM:312150
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Infantile Krabbe Disease	Respiratory distress, Cherry red spot of the macula, Respiratory failure, Optic atrophy	ORPHA:206436
Multiple Pterygium Syndrome, Escobar Variant	Epicanthus, Neonatal respiratory distress, Short stature, Bilateral ptosis, Neck pterygia, Antecu...	OMIM:265000
Noonan Syndrome	Hepatomegaly, Abnormal pulmonary valve morphology, Hypertelorism, Abnormality of the spleen, Apla...	ORPHA:648
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul...	ORPHA:1572
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Microcephaly, Tremor, Chorea, Athetosis, Hyperkin...	OMIM:615356
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Hepatic bridging fibr...	OMIM:300972
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef...	ORPHA:3015
Okamoto Syndrome	Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Abnormal left ventricle mor...	ORPHA:2729
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Congestive heart failure, Chore...	ORPHA:48818
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Highly arched eyebrow, Synophrys, Pulmonary hypoplasia, Pulmona...	OMIM:618316
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Odontochondrodysplasia 1	Respiratory distress, Death in infancy, Recurrent respiratory infections, Short stature, Mesomeli...	OMIM:184260
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Disproportionate short-limb short stature, Pulmonary hypoplasia, N...	OMIM:187600
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Lymphadenopath...	ORPHA:667
Marden-Walker Syndrome	Epicanthus, Postnatal growth retardation, Pulmonary hypoplasia, Blepharophimosis, Intrauterine gr...	OMIM:248700
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Atelectasis, Recurrent pneumonia, Growth delay, Pulmonary hypoplasia, Death in ...	OMIM:613177
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Epicanthus, Pulmonary hypoplasia, Multiple pterygia	OMIM:253290
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Yunis-Varon Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal occipital bone morphology, Cardiomegaly...	ORPHA:3472
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Short stature	ORPHA:1861
Alexander Disease	Frontal bossing, Ataxia, Clonus, Sudden cardiac death, Facial palsy, Tremor, Chorea, Abnormal pyr...	ORPHA:58
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Teebi Hypertelorism Syndrome 1	Short stature, Highly arched eyebrow, Bilateral ptosis, Widow's peak, Upslanted palpebral fissure...	OMIM:145420
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Respiratory failure, Optic atrophy, Respiratory insufficiency	OMIM:618329
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Hepatic bridging fibrosis, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepati...	OMIM:613812
Zimmermann-Laband Syndrome 1	Hepatomegaly, Splenomegaly, Wide nasal bridge, Macrocephaly, Cardiomyopathy, Dolichocephaly	OMIM:135500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Cachexia, Aortic valv...	ORPHA:2072
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, ...	OMIM:613658
Myhre Syndrome	Short stature, Respiratory insufficiency, Fine hair, Birth length less than 3rd percentile, Narro...	OMIM:139210
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Atrial septal defect, Abnormality of the tonsils, Hypertelorism, Obesit...	ORPHA:567
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple...	OMIM:602450
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Abnormal hair morphology, Atelectasis, Cough, Dystrophic finger...	ORPHA:2314
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Alg3-Cdg	Neural tube defect, Pulmonary hypoplasia	ORPHA:79321
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Short...	ORPHA:79102
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Short stature, Pneumonia	OMIM:617809
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Microcephaly, Tremor, Ata...	OMIM:220111
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Obesity, Increased...	ORPHA:90041
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia, Multiple pterygia	OMIM:601809
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Upslanted palpebral fissure, Pulmonary hypoplasia, Hypoplastic ni...	ORPHA:2437
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia, Short palpebral fissure	OMIM:251230
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Upslanted palpebral fissure, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3035
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Ataxia-Telangiectasia	Conjunctival telangiectasia, Ataxia, Microcephaly, Abnormal hair morphology, Tremor, Slurred spee...	OMIM:208900
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Truncal obesity, Leukopeni...	OMIM:222700
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neop...	ORPHA:171
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Short stature	ORPHA:280210
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Epicanthus, Postnatal growth retardation,...	ORPHA:3309
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Lymphadenopathy, Arrh...	ORPHA:342
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Microcephaly, Hypertelo...	ORPHA:99843
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Growth delay, Hypopnea, Respiratory failure, Neonatal death, Respiratory...	OMIM:617248
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re...	ORPHA:90324
Marburg Hemorrhagic Fever	Shock, Reticulocytosis, Tachycardia, Pericarditis, Lymphopenia, Pancreatitis, Jaundice, Hypovolem...	ORPHA:99826
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Spina bifida, Abnormal eyelid morphology, Abnormal eyela...	ORPHA:2671
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules	OMIM:139090
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Supernumerary nipple, Sparse eyebrow, Upslanted palpebral fissure, Pulmonary hypop...	OMIM:612530
Agnathia-Otocephaly Complex	Respiratory distress, Downslanted palpebral fissures, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Annular pancreas, Anemic pallor, Short stature	OMIM:227646
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Deep...	OMIM:619534
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Telecanthus, Pulmonary hypoplasia, Respiratory distress	OMIM:231680
Tay-Sachs Disease	Pallor	OMIM:272800
Hennekam Syndrome	Lymphopenia, Camptodactyly of finger, Craniosynostosis, Hypertelorism, Pericardial effusion, Sple...	ORPHA:2136
Lymphangioleiomyomatosis	Recurrent respiratory infections, Retinal hamartoma, Atelectasis, Dyspnea, Pneumothorax, Optic at...	ORPHA:538
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Generalized muscular app...	OMIM:269700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Spasticity, Hypertonia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:616539
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Respiratory failure	ORPHA:3240
Costello Syndrome	Curly hair, Epicanthus, Short stature, Tracheomalacia, Pneumothorax, Respiratory insufficiency, R...	OMIM:218040
Ear-Patella-Short Stature Syndrome	Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Breast ap...	ORPHA:2554
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Retinal dystrophy	OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Growth delay, Short stature, Pulmonary hypoplasia	ORPHA:250999
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Fontaine Progeroid Syndrome	Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Intrauterine growth retardation, R...	OMIM:612289
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Epicanthus, Unilateral lung agenesis, Optic nerve hypoplasia, Proportionate short sta...	ORPHA:500150
Lethal Congenital Contracture Syndrome 9	Antecubital pterygium, Cardiorespiratory arrest, Pulmonary hypoplasia, Short umbilical cord, Intr...	OMIM:616503
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Short stature, Fine hair, Pulmonary hypoplasia, Sparse hair, Aplasia/Hypoplasia of th...	OMIM:614091
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Rhizomelia, Stillbirth, Pulmonary hypoplasia, Neonatal short-limb short sta...	OMIM:151210
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, P...	OMIM:606002
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Small for gestational age, Microcephaly, Secundum atrial septal defect, Hy...	OMIM:613355
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hyperteloris...	OMIM:312870
Alström Syndrome	Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy...	ORPHA:64
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Sparse eyebrow, Respiratory insufficiency, Stillbirth, Pulmonary hypop...	OMIM:616300
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscular appearance from birth, Cardi...	OMIM:608594
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira...	ORPHA:536467
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Scorpion Envenomation	Bundle branch block, Tachycardia, Hemifacial spasm, Ataxia, Cardiac conduction abnormality, Tremo...	ORPHA:466677
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Dyspnea, Loss of eyelashes, Respiratory failure, Thin eyebrow, Sp...	ORPHA:2636
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Prominent occiput, Macroglossia, Shallow o...	ORPHA:96191
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Tarp Syndrome	Apnea, Abnormal hair pattern, Optic atrophy, Pulmonary hypoplasia, Intrauterine growth retardatio...	ORPHA:2886
Atelosteogenesis Type I	Telecanthus, Rhizomelia, Neonatal short-trunk short stature, Retinal dysplasia, Pulmonary hypoplasia	ORPHA:1190
Lethal Congenital Contracture Syndrome Type 1	Short stature, Pulmonary hypoplasia	ORPHA:1486
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hypertension, Neutrope...	OMIM:232220
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Neonatal respiratory distress, Upslanted palpebral fissure, Pigmen...	OMIM:214100
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb...	OMIM:153670
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Conjunctivitis	ORPHA:533
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Intrauterine growth retardation, Downslanted palpebral fissures, Pulmonar...	ORPHA:958
Adenohypophysitis	Pallor	ORPHA:95512
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per...	OMIM:263200
Tuberous Sclerosis Complex	Respiratory distress, Retinal astrocytic hamartoma, Retinal hamartoma, Respiratory tract infectio...	ORPHA:805
Congenital Myopathy 17	Telecanthus, Respiratory tract infection, Respiratory insufficiency, Pulmonary hypoplasia, Downsl...	OMIM:618975
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Pallor	ORPHA:653
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Epicanthus, Parakeratosis, Postnatal growth retardation, Coarse hair, Pulmo...	ORPHA:83617
Panhypophysitis	Pallor	ORPHA:95513
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice...	OMIM:613471
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly	OMIM:612852
Esophageal Atresia	Growth delay, Pallor, Absence of stomach bubble on fetal sonography, Polyhydramnios	ORPHA:1199
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Postnatal growth retardation, Widow's peak, Respiratory insufficienc...	OMIM:304120
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Stuve-Wiedemann Syndrome 1	Death in infancy, Short stature, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insuff...	OMIM:601559
Incontinentia Pigmenti	Erythema, Short stature, Pallor	OMIM:308300
Pituitary Apoplexy	Pallor	ORPHA:95613
Zygomycosis	Retinal detachment, Sinusitis, Epistaxis, Rhinorrhea, Atelectasis, Pneumothorax, Acute infectious...	ORPHA:73263
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Epicanthus, Short stature, Anencephaly, Pulmonary hypoplasia	OMIM:619148
Distal Triplication 15Q	Intrauterine growth retardation, Telecanthus, Pulmonary hypoplasia	ORPHA:314588
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Aregenerative Anemia	Pallor	ORPHA:101096
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, ...	ORPHA:99829
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Sparse scalp hair, Short stature, Chorioretin...	ORPHA:534
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk...	OMIM:146500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Upslanted palpebral fissure, Death in infancy, Respiratory failure	OMIM:300868
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor, Short stature	OMIM:227645
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa...	OMIM:600376
Fraser Syndrome 2	Respiratory failure, Low anterior hairline, Cryptophthalmos	OMIM:617666
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Dysmetria, Atrial septal defe...	ORPHA:904
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Blau Syndrome	Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Large vessel vasculitis, Lymph...	ORPHA:90340
Raine Syndrome	Death in infancy, Short stature, Highly arched eyebrow, Pulmonary hypoplasia, Neonatal death, Dow...	OMIM:259775
Matthew-Wood Syndrome	Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Genitopatellar Syndrome	Sparse scalp hair, Apnea, Short stature, Fine hair, Pulmonary hypoplasia	ORPHA:85201
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Cardiomegaly, P...	ORPHA:51608
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Achondroplasia	Respiratory distress, Death in infancy, Rhizomelia, Upper airway obstruction, Pulmonary hypoplasi...	OMIM:100800
Renal Agenesis, Bilateral	Epicanthus, Pulmonary hypoplasia, Sirenomelia	ORPHA:1848
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis	ORPHA:319213
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Growth delay, Respiratory failure...	ORPHA:731
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Recurrent respiratory infections, Short stature, Respiratory insufficiency, Pul...	OMIM:208500
Meckel Syndrome 14	Occipital encephalocele, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:619879
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Ulbright-Hodes Syndrome	Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc...	ORPHA:3404
Vacterl With Hydrocephalus	Intrauterine growth retardation, Abnormal optic nerve morphology, Pulmonary hypoplasia, Spina bifida	ORPHA:3412
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Infection-Related Hemolytic Uremic Syndrome	Pallor, Pancreatitis	ORPHA:544482
Pagod Syndrome	Encephalocele, Death in infancy, Short stature, Spina bifida, Meningocele, Optic atrophy, Pulmona...	ORPHA:991
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Plague	Hepatomegaly, Tachycardia, Hematemesis, Lymphadenitis, Splenomegaly, Endocarditis, Enlarged mesen...	ORPHA:707
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out...	OMIM:187300
Diamond-Blackfan Anemia	Growth delay, Pallor, Short stature, Nonimmune hydrops fetalis	ORPHA:124
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Scimitar anomaly, Stillbirth, Cardia...	OMIM:608978
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Synophrys, Pulmonary hypoplasia, Pleural effusion, Downslanted palpebral fi...	OMIM:620369
Serkal Syndrome	Growth delay, Pulmonary hypoplasia	ORPHA:139466
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Leg muscle stiffness, Brad...	OMIM:615530
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Pulmonary hypoplasia	ORPHA:85166
Oligomeganephronia	Branchial cyst, Optic disc coloboma, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormal EKG, Alopecia, Involuntary movements, Abnormal central motor...	ORPHA:3385
Atelosteogenesis Type Ii	Epicanthus, Telecanthus, Rhizomelia, Rhizomelic arm shortening, Pulmonary hypoplasia, Tracheobron...	ORPHA:56304
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Short stature, Optic nerve hypoplasia, Optic disc coloboma, Respiratory insuff...	ORPHA:536471
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature	OMIM:600901
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis	OMIM:619708
Fanconi Anemia, Complementation Group A	Anemic pallor, Short stature	OMIM:227650
Meckel Syndrome, Type 6	Occipital encephalocele, Bilobed right lung, Anencephaly, Pulmonary hypoplasia	OMIM:612284
Tsh-Secreting Pituitary Adenoma	Pallor, Delayed puberty	ORPHA:91347
Niemann-Pick Disease Type C	Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia	ORPHA:646
Acrorenal-Mandibular Syndrome	Epicanthus, Absent nipple, Pulmonary hypoplasia, Intrauterine growth retardation, Downslanted pal...	OMIM:200980
Alg9-Cdg	Telecanthus, Rhizomelia, Asthma, Abnormal lung lobation, Low posterior hairline, Pulmonary hypopl...	ORPHA:79328
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor	ORPHA:329971
Mosaic Trisomy 1	Congenital bilateral ptosis, Pulmonary hypoplasia, Downslanted palpebral fissures, Pulmonary arte...	ORPHA:1692
Achondrogenesis, Type Ia	Stillbirth, Disproportionate short-trunk short stature, Pulmonary hypoplasia	OMIM:200600
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Downslanted palpebral fissures, Pulmonary hypoplasia	ORPHA:90652
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Anencephaly, Pulmonary hypoplasia, Retinal coloboma	OMIM:616546
Acrocephalopolydactylous Dysplasia	Upslanted palpebral fissure, Epicanthus, Pulmonary hypoplasia, Extrapulmonary sequestrum	OMIM:200995
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Optic nerve hypoplasia, Aortopulmonary window, Pulmonary artery hy...	OMIM:620025
Fraser Syndrome	Encephalocele, Death in infancy, Abnormal hair pattern, Myelomeningocele, Abnormal lung lobation,...	ORPHA:2052
Fryns Syndrome	Narrow palpebral fissure, Stillbirth, Chylothorax, Pulmonary hypoplasia, Facial hirsutism, Blepha...	OMIM:229850
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Absent eyelashes, Myelomeningocele, Extension of hair growth on te...	OMIM:219000
Chand Syndrome	Atelectasis, Curly hair, Ankyloblepharon	ORPHA:1401
Pentalogy Of Cantrell	Encephalocele, Anencephaly, Pulmonary hypoplasia	ORPHA:1335
Distal Deletion 15Q	Short stature, Postnatal growth retardation, Upslanted palpebral fissure, Growth delay, Pulmonary...	ORPHA:1596
Digeorge Syndrome	Short stature, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent...	OMIM:188400
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Sarcoidosis	Hepatomegaly, Portal hypertension, Abnormal liver parenchyma morphology, Decreased liver function...	ORPHA:797
Tetrasomy 9P	Epicanthus, Abnormal chorioretinal morphology, Pulmonary arterial hypertension, Pulmonary hypopla...	ORPHA:3310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Pulmonary hypoplasia	OMIM:614080
Meier-Gorlin Syndrome 7	Short stature, Growth delay, Breast aplasia, Pulmonary hypoplasia, Thin eyebrow	OMIM:617063
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Schinzel-Giedion Syndrome	Respiratory distress, Generalized hypertrichosis, Recurrent pneumonia, Neural tube defect, Pulmon...	ORPHA:798
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Pulmonary hypoplasia, Low posterior hairline	OMIM:617925
Blomstrand Lethal Chondrodysplasia	Telecanthus, Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia	ORPHA:50945
Smith-Lemli-Opitz Syndrome	Death in infancy, Epicanthus, Short stature, Abnormal lung lobation, Growth delay, Pulmonary hypo...	OMIM:270400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Osteogenesis Imperfecta	Neonatal respiratory distress, Rhizomelia, Short stature, Growth delay, Pulmonary hypoplasia, Umb...	ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Pulmonary hypoplasia	OMIM:615503
Thoracoabdominal Syndrome	Anencephaly, Pulmonary hypoplasia	OMIM:313850
Fryns Syndrome	Pulmonary hypoplasia	ORPHA:2059
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Severe short stature, Growth delay, Bilateral lung agenesis, Pu...	ORPHA:2753
Dpagt1-Cdg	Optic atrophy, Pulmonary hypoplasia, Diffuse optic disc pallor, Rod-cone dystrophy, Hypertrichosis	ORPHA:86309
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary...	OMIM:619351
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation	OMIM:175050
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Pulmonary hypoplasia	OMIM:263520
Pallister-Killian Syndrome	Sparse scalp hair, Telecanthus, Epicanthus, Sparse eyelashes, Rhizomelia, Alopecia, Mesomelic/rhi...	OMIM:601803
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hepatic arteriovenous malformation, Extrahepatic portal hypertension, G...	ORPHA:2929
Cardiac-Urogenital Syndrome	Tracheomalacia, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Patent urachus, ...	OMIM:618280
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Goodpasture Syndrome	Pallor	OMIM:233450
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Epicanthus, Pulmonary hypoplasia, Respiratory insuffic...	ORPHA:93271
Pmm2-Cdg	Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology	ORPHA:79318
Craniofacial Microsomia 1	Occipital encephalocele, Blepharophimosis, Upper eyelid coloboma, Branchial anomaly, Pulmonary hy...	OMIM:164210
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
Genitopatellar Syndrome	Sparse scalp hair, Downslanted palpebral fissures, Pulmonary hypoplasia	OMIM:606170
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia	ORPHA:49
Microphthalmia, Syndromic 1	Optic disc coloboma, Growth delay, Pulmonary hypoplasia, Chorioretinal coloboma, Ptosis	OMIM:309800

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 Raf1

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 Raf1.

No publications found that use IMPC mice or data for Raf1.

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
Raf1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Raf1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Raf1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Raf1 MGI:97847

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Raf1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data