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Gene: Ctsl MGI:88564

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Gene Summary

Name:
cathepsin L
Synonyms:
major excreted protein,  Cat L,  MEP,  1190035F06Rik

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IMPC Data Collections

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.

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Ctsl 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy... ORPHA:505
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Sparse eyebrow, Hypoplastic... ORPHA:2722
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Pruritus, Hyperparakeratosis, Periorifi... OMIM:614594
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palmoplantar keratoderma, Syncope, Palpit... OMIM:610476
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Sensorineural hearing impair... ORPHA:79395
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... OMIM:607626
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glan... OMIM:617337
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... ORPHA:499
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormality of the dentition, Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratos... OMIM:617756
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Candidiasis, Familial, 1
Alopecia, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Conical incisor, Widely spaced... OMIM:257980
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia... ORPHA:90368
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
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
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
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
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ... ORPHA:79153
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level OMIM:618806
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Carvajal Syndrome
Woolly hair, Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis ORPHA:65282
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
L-Ferritin Deficiency
Alopecia OMIM:615604
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Palmoplantar ke... OMIM:611528
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Lymphade... ORPHA:2584
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Carious teeth, Hyperkeratosis, Alopecia of scalp, Follicular hyperkerat... ORPHA:69125
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Type II diabetes mellitus, Generalized hirsutism, Delayed puberty ORPHA:2297
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hyperkeratosis, Sparse hair ORPHA:2574
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Hypoh... ORPHA:100976
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Microdontia of primary teeth, Agenesis of perman... OMIM:189500
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Alopecia, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Parakeratosis, Hemolytic anemia, Maculopapular exanthema, Sk... ORPHA:398124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... ORPHA:2269
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
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Erythrokeratodermia Variabilis
Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Erythema, Patchy palmop... ORPHA:317
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Hypodontia OMIM:246500
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis... ORPHA:411593
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Anti-glutamic acid decarboxylase antibody po... OMIM:610582
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... ORPHA:346
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Eczema, Absent eyelashes, Clef... ORPHA:2890
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Ichthyosis With Confetti
Short stature, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Scaling sk... OMIM:609165
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Corneal erosion, Hypohidrosis, Ichthyosis, Palmoplantar keratoderm... ORPHA:79394
Lamellar Ichthyosis
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Ever... ORPHA:313
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... OMIM:101900
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Anti-g... OMIM:616329
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils, Endocardia... ORPHA:111
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... ORPHA:530838
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythr... OMIM:242300
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Premature graying of hair, Distal lower limb muscl... OMIM:619903
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... ORPHA:1008
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Sézary Syndrome
Hepatomegaly, Alopecia, Pruritus, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail d... ORPHA:3162
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera... OMIM:212360
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... OMIM:540000
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dys... OMIM:604536
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru... OMIM:602400
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Bazex Syndrome
Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... ORPHA:166113
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Hyperkerat... OMIM:615821
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Increased mitochondrial number, Decreased muscle mass, Decreased muscle ... ORPHA:263297
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Au... ORPHA:99886
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... OMIM:612281
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hirsutism, Thickened skin ORPHA:2812
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... ORPHA:2325
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Autoimmunity OMIM:222100
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Palmoplantar keratoderma, Myopathy, Abnormality of neutrophils ORPHA:154
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Noonan Syndrome 8
Curly hair, Ventricular septal defect, Eczema, Cryptorchidism, Hyperkeratosis, Mitral regurgitati... OMIM:615355
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... ORPHA:248
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Naxos Disease
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... ORPHA:34217
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Cutaneous macular amyloidosis, Amyloidosis, Palmoplantar ker... OMIM:615225
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormality of the dentit... ORPHA:573
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Abnormal dental morphology, Protruding ear, Palmoplantar keratoderma, Everted lower lip... ORPHA:2251
Omenn Syndrome
Hepatomegaly, Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leuko... ORPHA:39041
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Synophrys, Broad nail, Skeletal m... OMIM:300280
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukope... OMIM:301080
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Con... OMIM:613576
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Conical tooth, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dys... OMIM:618625
Flynn-Aird Syndrome
Alopecia, Cataract, Carious teeth, Hyperkeratosis, Progressive sensorineural hearing impairment, ... OMIM:136300
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Short hallux, Limitation of joint mobility, Ectopic ossification in liga... ORPHA:337
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... OMIM:612954
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Cari... OMIM:612843
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Diabetes mellitus, Abnormal fingernail morphology, Perifoll... ORPHA:79147
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Bullous Dystrophy, Hereditary Macular Type
Short finger, Alopecia totalis, Abnormality of the nail, Tapered finger OMIM:302000
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Azo... OMIM:602390
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, C... OMIM:615895
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin, Pruritus OMIM:616265
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... ORPHA:525
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of... ORPHA:169154
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Lymphaden... OMIM:618935
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
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... ORPHA:47
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98855
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... OMIM:615598
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin ra... ORPHA:331206
Keratoderma Hereditarium Mutilans
Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Cleft palate, ... ORPHA:494
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Nail dystr... ORPHA:79397
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, P... ORPHA:88630
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:98853
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec... OMIM:256500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Nail dystroph... OMIM:270300
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan... ORPHA:312
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... OMIM:619167
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyop... OMIM:618815
Tooth Agenesis, Selective, 8
Selective tooth agenesis, Sparse eyebrow, Sparse hair, Microdontia, Dry skin OMIM:617073
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus... ORPHA:1330
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy, Malar rash OMIM:618097
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... OMIM:613573
Ichthyosis, Congenital, Autosomal Recessive 9
Eclabion, Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:615023
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Congestive heart failure, Dilated cardi... OMIM:605676
Cln3 Disease
Acne, Vacuolated lymphocytes, T-wave inversion, Bradycardia, Left ventricular hypertrophy, Hirsutism ORPHA:228346
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... ORPHA:89838
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,... OMIM:618986
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Abnormality of the den... ORPHA:1806
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thin upper lip vermilion, Widow's peak, Atopic dermatitis, Long philtrum, Sparse hair, Thick eyebrow OMIM:606242
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98863
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Winchester Syndrome
Corneal opacity, Gingival overgrowth, Hirsutism OMIM:277950
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Short stature, Ichthyosis, Palmoplantar keratoderma, Con... OMIM:242150
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Trichothiodystrophy 1, Photosensitive
Brittle hair, Protruding ear, Microcornea, Sparse hair, Tiger tail banding, Trichoschisis, Small ... OMIM:601675
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alo... OMIM:608649
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thromboc... OMIM:603554
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ... OMIM:616295
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, ... OMIM:600785
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express... OMIM:247100
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... OMIM:129500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in infa... OMIM:606367
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, Hy... OMIM:226650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Bilateral cryptorchidism, Erythroderma, Agitation, Ichthyosis OMIM:618840
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Hereditary Progressive Mucinous Histiocytosis
Pruritus, Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect, Highly arched eyebrow OMIM:615476
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormalit... ORPHA:659
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Hypodo... OMIM:129490
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Dilated cardiomyo... ORPHA:401923
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ... ORPHA:1028
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Alopecia of scalp, Palmoplantar keratoderma, Scaling skin, Nail dy... OMIM:618373
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Short stature, Sparse eyebrow, Abnormal h... ORPHA:634
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... OMIM:615513
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block ORPHA:480
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Anorexia, Cachexia, Hypoplastic toenails,... ORPHA:2930
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Essential Fructosuria
Hyperglycemia ORPHA:2056
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology ORPHA:98892
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia... OMIM:304790
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Ichthyosis, Sparse hair... OMIM:619692
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Inflammatory abnormality of the skin, Ventricul... ORPHA:26793
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Coproporphyria, Hereditary
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly OMIM:121300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papule ORPHA:38
Gómez-López-Hernández Syndrome
Corneal opacity, Thin vermilion border, Low-set ears, Alopecia of scalp, Toenail dysplasia ORPHA:1532
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Abnormality of the dentition, Pruritus, Oral mucosal blisters, Hyperkerat... ORPHA:79399
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne... OMIM:618282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus... OMIM:613156
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276556
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Uncombable hair, Coliti... OMIM:614602
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Generalized lymphaden... OMIM:615559
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Aredyld
Mandibular prognathia, Generalized hypotrichosis OMIM:207780
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology,... OMIM:242100
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Cryptorchidism, Synophrys, Mitral regurgitation,... ORPHA:254346
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Eosinophilopenia
Allergic rhinitis, Autoimmunity, Decreased eosinophil count OMIM:131430
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Porokeratosis ORPHA:735
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... ORPHA:2552
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Sparse eyebrow, Sca... ORPHA:35173
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... ORPHA:2199
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Premature loss of primary teeth, Abnormality of the denti... ORPHA:1810
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi... ORPHA:746
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasia/Hypopl... ORPHA:2891
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Schöpf-Schulz-Passarge Syndrome
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Palmoplantar keratoderma, Hypodontia... ORPHA:50944
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly,... OMIM:607015
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Abnormal hair morphology ORPHA:222
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Joint contracture, Erys... OMIM:615704
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s... OMIM:275400
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276575
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Pachyonychia Congenita
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays o... ORPHA:2309
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hyperglycemia OMIM:608600
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... OMIM:615418
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276580
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Enam... ORPHA:79402
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey... ORPHA:381
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal dental morphology, Abnormal eyelash morphology, Hypodontia, Sparse hair, Abnormal toenai... ORPHA:1818
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... ORPHA:498359
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G... ORPHA:3019
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... OMIM:612561
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... ORPHA:352447
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent skin infections, Autoimmune hemolytic anemia, Recurrent p... OMIM:616576
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... OMIM:113800
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, ... OMIM:148700
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block, Long eyebrows OMIM:614407
Prolidase Deficiency
Abnormal fingernail morphology, Micrognathia, Pruritus, Carious teeth, Splenomegaly, Crusting ery... ORPHA:742
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Mitral... OMIM:606631
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Autoimmune antibody po... ORPHA:552
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Bilateral cryptorchidism, Congestive heart failure, Dilated cardiomyopathy,... ORPHA:2326
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dilated cardiom... OMIM:610768
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... ORPHA:90280
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Flexion contracture OMIM:616733
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Variegate Porphyria
Tachycardia OMIM:176200
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Anemia, Lymphadenopathy ORPHA:100025
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Scapular winging, Sparse eyebrow, Cryptorchidism, Mitral valve ... OMIM:619745
Congenital Fibrinogen Deficiency
Decreased testicular size, Tachycardia, Abnormality of the subungual region, Splenic rupture, Lef... ORPHA:335
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Dry hair, Abnormal atrioventricular valve physiology, Abno... ORPHA:576
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair, Everted lower lip vermilion, Protruding ear OMIM:278200
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... OMIM:617526
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Short stature, Erythema, Hyperkeratosis, Mild intrauterine growth retard... OMIM:308050
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Fine hair, Furrowed tongue, Hyperkera... ORPHA:1839
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Nail dystr... OMIM:205400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin... ORPHA:3253
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Horizontal eyebrow, Atr... OMIM:615879
Pachydermoperiostosis
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... ORPHA:2796
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Hyperconvex nail, Flexion contracture, Interphalangeal th... OMIM:613870
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Amyloidosis, Dry skin, Scaling skin OMIM:105250
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Alopecia, P... ORPHA:37042
Ethanolaminosis
Cardiomegaly OMIM:227150
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Failure to thrive, Eczema, Microcytic anemia, Cutis laxa, Hyperker... OMIM:612379
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Nicolaides-Baraitser Syndrome
Alopecia, Sandal gap, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abno... ORPHA:3051
Atrophoderma Vermiculata
Heart block, Hyperkeratotic papule, Follicular hyperkeratosis, Pruritus ORPHA:79100
Dermoodontodysplasia
Mandibular prognathia, Sparse scalp hair, Hypohidrosis, Tooth agenesis, Fingernail dysplasia, Tri... ORPHA:1660
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Generalized hypoplasia of dental enamel, Alopecia, Carious teeth OMIM:203550
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... ORPHA:1010
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Pruritus... ORPHA:905
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Situs inversus totalis OMIM:609008
Hurler-Scheie Syndrome
Corneal opacity, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing impairment, Rhin... ORPHA:93476
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Tooth malposition, Abnormal dental morphology, Sparse body hair ORPHA:85274
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Porphyria Cutanea Tarda
Alopecia, Reduced uroporphyrinogen decarboxylase activity, Onycholysis, Cirrhosis, Hepatocellular... OMIM:176100
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ... OMIM:225060
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Increased circulating l... ORPHA:824
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... OMIM:129400
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Noonan Syndrome 10
Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Mitral va... OMIM:616564
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Umbilical hernia ORPHA:2181
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Car... OMIM:235200
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea ORPHA:90158
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function, Microcytic anemia OMIM:618805
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Ichthyosis, Macrotia, Sparse body hair, Aplasia/Hypoplasia of the ey... ORPHA:2850
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepa... ORPHA:169160
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Thickened skin, Lack of skin elasticity, Weight loss, Prematu... ORPHA:1979
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenom... OMIM:602450
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... OMIM:300696
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... ORPHA:59303
Rhizomelic Chondrodysplasia Punctata
Alopecia, Cataract, Abnormality of the dentition, Ichthyosis, Dry skin, Sparse body hair ORPHA:177
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Conjunctivitis, Widely spaced... OMIM:106260
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr... ORPHA:3363
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism, Fine hair, Hypodontia, Sparse hair, Microdontia ORPHA:1174
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Azoospermia... ORPHA:280679
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity OMIM:609529
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy ORPHA:1366
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of the tonsil... ORPHA:229717
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Kearns-Sayre Syndrome
Sideroblastic anemia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular blo... OMIM:530000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Ovarian neoplasm, Fine hai... ORPHA:2221
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair OMIM:601453
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Pruritus, Myocarditis, Pul... ORPHA:81
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... ORPHA:1882
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facia... OMIM:308800
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia, Seborrheic dermatitis OMIM:121270
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
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, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced p... OMIM:617443
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy ORPHA:52416
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Carious teeth, Sensorineural hearing impairment, Hyperkeratosis, Coarse hair, Spars... ORPHA:1883
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphaden... OMIM:260920
Trichothiodystrophy 8, Nonphotosensitive
Thin upper lip vermilion, Eczema, Sparse eyebrow, Protruding ear, Cutis laxa, Long philtrum, Spar... OMIM:619691
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve OMIM:619825
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Mitral... OMIM:617258
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... OMIM:619698
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation, Sparse body... ORPHA:1133
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Sen... OMIM:148210
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell c... ORPHA:98813
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Eczema, Aggressive behavior, Cryptorchidism, Self-injurious beh... OMIM:618362
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Pulmonary hemorrhage OMIM:603585
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm... ORPHA:228410
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function OMIM:132900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Trichorrhexis nodosa, Sinus bradycardia, Mitral regurgitation,... OMIM:261990
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Vaginal hydrocele... ORPHA:2035
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular septal defect, Eczema, Cryptorch... OMIM:607721
Gand Syndrome
Thin upper lip vermilion, Hyperactivity, Wide mouth, Tics, Inappropriate laughter, Short philtrum... OMIM:615074
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Cardio... OMIM:607014
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioventricular block, Facial... OMIM:160900
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio... OMIM:230800
Lipoid Proteinosis
Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of the gingiva, Thick... ORPHA:530
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Abnormal dental morphology, Abnorma... ORPHA:238468
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Palmoplantar hyperkeratosis, Sparse lateral eyebrow ORPHA:363523
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Highly arched eyebrow, Cryptorchidism, Synophrys, Conotruncal defect, Macro... ORPHA:96147
Lelis Syndrome
Mandibular prognathia, Yellow nails, Carious teeth, Acanthosis nigricans, Absent lower eyelashes,... ORPHA:140936
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer ORPHA:492
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma... ORPHA:79501
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... ORPHA:40366
Short Syndrome
Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormality ... ORPHA:3163
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Furrowed tongue, Hypohidrosis, Coarse hair, Spar... OMIM:301845
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... ORPHA:2985
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Downturned corners of mouth, Sparse hair, Distichiasis, ... ORPHA:79133
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Developmental cataract, I... OMIM:215100
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... OMIM:614823
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion... ORPHA:181
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Renpenning Syndrome
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Cataract, Macrodontia, High, narr... ORPHA:3242
Monosomy 22
Low-set, posteriorly rotated ears, Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, ... ORPHA:96123
Incontinentia Pigmenti
Ridged nail, Conical tooth, Uveitis, Coarse hair, Oligodontia, Pallor, Sparse hair, Atrophic, pat... OMIM:308300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Thick hair, Congestive heart failure, Thrombocytopenia, Fle... ORPHA:505248
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... ORPHA:79481
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Trichotillomania
Alopecia OMIM:613229
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... OMIM:616367
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Broad nail, ... ORPHA:1334
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... ORPHA:329336
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin ORPHA:140933
Diffuse Cutaneous Mastocytosis
Pruritus, Abnormality of the spleen, Thickened skin, Lymphadenopathy, Scaling skin, Lymphocytosis... ORPHA:79456
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Open bite, Splenomeg... ORPHA:61
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ... ORPHA:449285
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Truncal obesity, Sparse body hair, Intrauterine growth retardation... ORPHA:261483
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... OMIM:170100
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis, Hyperkeratosis, Cutaneous amyloidosis, Frontal upsweep of hair, Broad eyebrow OMIM:301220
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... OMIM:603387
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
19Q13.11 Microdeletion Syndrome
Failure to thrive, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Spars... ORPHA:217346
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Erythroid hypoplasia, Synophrys, Widow's pea... OMIM:620072
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Rhabdomy... OMIM:300842
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Compulsive behaviors, Fine hair ORPHA:500166
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair, Juv... ORPHA:1264
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma OMIM:615022
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Mitral regurgitation, Hypertrichosis, Hepatosplenomegaly OMIM:619750
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... ORPHA:1897
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Progressive cervical vertebral spine fusion, Ectopic ossification in ten... OMIM:135100
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Mitral regurgitation, Camptodactyly, Atrial septal defect OMIM:301039
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... ORPHA:829
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Chronic otitis media,... ORPHA:33355
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Abnormal cardiac septum morphology, Facial hypotonia, First degree atriovent... ORPHA:589821
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Palmoplantar hypohidrosis OMIM:129200
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Mitral valve prolapse OMIM:173900
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, C... ORPHA:49827
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Conductive hearing impairment, Carious teeth, Cleft p... ORPHA:2316
Bone Marrow Failure Syndrome 3
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neu... OMIM:617052
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Alopecia, Abnormal dental enamel morphology, Hypohidrosis, Hyp... ORPHA:1005
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Isolated Atp Synthase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... ORPHA:170
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Microt... OMIM:141300
Noonan Syndrome 13
Highly arched eyebrow, Cryptorchidism, Mitral valve prolapse, Low posterior hairline, Mitral regu... OMIM:619087
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Growth delay, Thrombocytopenia, Pe... ORPHA:79242
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Sparse eyebrow, Flexion c... OMIM:614008
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Endocardial fibrosis, Myeloproliferative diso... OMIM:607685
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Chronic mucocutaneo... OMIM:158310
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations ORPHA:324575
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Fair ... OMIM:269920
Cutis Laxa, Autosomal Dominant 2
Mitral regurgitation OMIM:614434
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Micrognathia, Sparse eyebrow, Carious teeth, Splenomegaly, Rec... OMIM:604173
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Th... ORPHA:540
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Lymphopenia, Myositis, Skin rash, Follicular hyperplasia, Pustule,... OMIM:615934
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Darier Disease
Acrokeratosis, Abnormal hair morphology, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin... ORPHA:218
Hamamy Syndrome
Prolonged QRS complex, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Complete atrioventric... OMIM:611174
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... ORPHA:678
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Acantholysis, Absent eyelashes, Impaired myocardial contractility, ... ORPHA:158687
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Gingival fibromatosis, Skin ulcer, Gingival overgrowth ORPHA:2028
Myotonic Dystrophy 2
Tachycardia, Frontal balding, Oligozoospermia, Right bundle branch block, Premature ventricular c... OMIM:602668
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
2Q32Q33 Microdeletion Syndrome
Dental crowding, Aggressive behavior, Micrognathia, Narrow mouth, Cleft palate, Fine hair, Oligod... ORPHA:251019
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph... OMIM:614328
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Glossitis, Anorexia, Pustule, Paronychia, Ery... ORPHA:37
Ifap Syndrome 2
Ichthyosis follicularis, Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratocon... OMIM:619016
Harlequin Ichthyosis
Cataract, Hyperkeratosis, Self-injurious behavior, Congenital ichthyosiform erythroderma, Ichthyo... ORPHA:457
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Flynn-Aird Syndrome
Cachexia, Alopecia, Skin ulcer ORPHA:2047
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A... OMIM:619375
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Incontinentia Pigmenti
Uveitis, Orofacial cleft, Hyperhidrosis, Abnormal toenail morphology, Infectious encephalitis, Ab... ORPHA:464
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Hyperkeratosis, Palmoplantar keratod... OMIM:616029
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper lip vermilion OMIM:227260
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Macroglossia, Pancytopenia, Hepatosplenomegaly ORPHA:309288
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Heart murmur, Abnormal heart morpholo... ORPHA:1867
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Satoyoshi Syndrome
Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of the hand, Ge... OMIM:600705
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly ORPHA:2576
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... ORPHA:79106
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Howell-Jolly bodies, Abnormal cardiac ve... ORPHA:85443
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve... ORPHA:84064
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Brittle hair, Diastasis recti, Cardiomegaly, Sparse eyebrow, ... OMIM:252500
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition, Cutis laxa OMIM:105120
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... ORPHA:293964
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Phenylketonuria
Hyperactivity, Cataract, Eczema, Aggressive behavior, Blue irides, Dry skin, Compulsive behaviors... OMIM:261600
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Retrognathia, Hypoplas... OMIM:234050
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Hypomelanosis Of Ito
Alopecia, Cataract, Thick lower lip vermilion, Irregularly spaced teeth, Iris coloboma OMIM:300337
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear... ORPHA:113
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ... ORPHA:2909
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... ORPHA:363618
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
16P12.1P12.3 Triplication Syndrome
Tachycardia, Bilateral cryptorchidism, Abnormal heart morphology, Abnormal tricuspid valve morpho... ORPHA:485405
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... OMIM:258360
Chilblain Lupus 1
Skin ulcer, Chilblains, Abnormality of the nail OMIM:610448
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Dilated ... ORPHA:261250
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Skin rash, Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:618321
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Smooth philtrum, Posteriorly rotated ears, Corneal opacity, Micrognathia, Keratitis, Synophrys, W... OMIM:602562
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia, Genera... ORPHA:93400
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin OMIM:613707
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Scaling skin, Granulocytopenia,... ORPHA:454831
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Posteriorly rotated ears, Fine hair, High palate, Low-set ears, Spars... OMIM:615278
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, T lymphocytopenia, Erythroder... OMIM:619510
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Costello Syndrome
Deep-set nails, Low-set, posteriorly rotated ears, Keratoconus, Abnormal fingernail morphology, R... ORPHA:3071
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia OMIM:611126
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... ORPHA:2848
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Acne, Osteoporosis, Hirsutism OMIM:615830
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Fine hair, Aplasia/Hypoplasia of the middle ear, Atresia of th... ORPHA:3236
Progeroid Syndrome, Petty Type
Low-set, posteriorly rotated ears, Mandibular prognathia, Brittle hair, Redundant skin, Abnormal ... ORPHA:2963
Sandhoff Disease, Infantile Form
Mitral regurgitation, Mitral valve prolapse, Hepatosplenomegaly ORPHA:309155
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Curly hair, Brittle hair, Ventricular septal defect, Thromboc... OMIM:222470
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Palmoplantar hyperkeratosis, Premature gra... OMIM:613989
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow OMIM:218340
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Christianson Syndrome
Cachexia, Inappropriate laughter, Dysphagia, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:85278
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... OMIM:615387
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Scaling... ORPHA:158668
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ... OMIM:253200
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis OMIM:176090
Mcdonough Syndrome
Cryptorchidism, Synophrys, Short stature, Cachexia ORPHA:2471
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Anorexia, Keratitis, Lympha... ORPHA:31204
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Abnormal pinna morphology, Sparse eyebrow, Congenital ichthyosiform e... OMIM:302960
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Dental malocclusion, Macrotia, Ab... OMIM:615541
Chylous Ascites
Pancreatitis ORPHA:1160
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Sparse hair, Subvalvular aortic stenosis, Atrial... OMIM:614114
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Hyperhidrosis, Premature grayi... ORPHA:1775
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa ORPHA:79148
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Hyperkeratosis, Limbal dermoid, Lymphangioma, Facial hyper... OMIM:176920
Intellectual Developmental Disorder, Autosomal Dominant 65
Tented upper lip vermilion, Posteriorly rotated ears, Aggressive behavior, Micrognathia, Synophry... OMIM:619320
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit... OMIM:121050
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma OMIM:609180
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m... OMIM:620265
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly OMIM:619576
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Thin upper lip vermilion, Sparse eyebrow, Wide mouth, Low-set ears, Sparse... OMIM:619989
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Hypohid... OMIM:224900
Mixed Connective Tissue Disease
Hemolytic anemia, Alopecia, Pericarditis, Skin rash, Myositis, Gastritis, Myocarditis, Mediastina... ORPHA:809
Hereditary Coproporphyria
Proximal muscle weakness in upper limbs, Tachycardia, Extension of hair growth on temples to late... ORPHA:79273
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia OMIM:609015
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Congenital diaphragmatic hernia, Flexion contractu... OMIM:208050
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abno... ORPHA:93160
Tularemia
Brain abscess, Tachycardia, Skin rash, Erythema nodosum, Thrombocytopenia, Leukocytosis, Anemia, ... ORPHA:3392
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature grayin... OMIM:300845
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Hypoglycemia, Pancreatitis, Adrenal insufficiency OMIM:619386
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Small for gestational age, Slow-growing hair, Short stature, Mild intrauterine grow... OMIM:616943
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemi... ORPHA:2298
Alopecia Antibody Deficiency
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Conductive hearing impairm... ORPHA:1006
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:619343
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A... ORPHA:51636
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Menkes Disease
Joint laxity, Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Spar... OMIM:309400
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Rodrigues Blindness
Sclerocornea, Protruding ear, Fine hair, Microcornea, Sparse hair, Tooth malposition OMIM:268320
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Protruding ear, Long... OMIM:620001
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly ORPHA:93474
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... ORPHA:2200
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Dry skin, Ichthyosis ORPHA:1954
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Recon Progeroid Syndrome
Thrombocytopenia, Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Scaling skin, Thin ... OMIM:620370
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Eczema, Short stature, Postnatal growth retardation, Synophrys, Sparse... OMIM:611091
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Decreased proportion... OMIM:619126
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia ORPHA:90037
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Lower limb muscle weakness OMIM:619737
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Psoriasis 14, Pustular
Parakeratosis, Neutrophilia, Epidermal acanthosis, Psoriasiform dermatitis, Pustule, Leukocytosis... OMIM:614204
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... OMIM:252920
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Splenomegaly, Lymphadenopathy, Premature graying of hair,... ORPHA:79477
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin, Hepatitis, ... ORPHA:436252
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Recessive X-Linked Ichthyosis
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Attention deficit hyperactivity disorde... ORPHA:461
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Kury-Isidor Syndrome
Alopecia, Tented upper lip vermilion, Long philtrum, Astigmatism, High palate, Widely spaced teet... OMIM:619762
Keutel Syndrome
Alopecia, Recurrent sinusitis, Calcification of cartilage, Recurrent otitis media, Short distal p... ORPHA:85202
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranopro... OMIM:137940
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Cystic acne, Small vessel vasculitis, Acne inversa, Anemia OMIM:608068
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Chanarin-Dorfman Syndrome
Alopecia, Sensorineural hearing impairment, Microtia, Everted lower lip vermilion, Congenital non... OMIM:275630
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Alopecia, Myositis, Skin rash, Discoid lupus rash, Oral ulcer, Lymphadenopathy, Arth... ORPHA:93552
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... OMIM:613327
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... OMIM:614564
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Sparse eye... OMIM:167210
Plague
Chapped lip, Hepatomegaly, Skin rash, Anorexia, Erythema nodosum, Lymphadenitis, Splenomegaly, En... ORPHA:707
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Lympha... OMIM:611762
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abnormal mesentery morp... ORPHA:449395
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations OMIM:188580
Heyn-Sproul-Jackson Syndrome
Sparse hair, Intrauterine growth retardation, Severe short stature, Decreased body weight OMIM:618724
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Hypereosinophilia, Lymphadeno... OMIM:212050
Filippi Syndrome
Cryptorchidism, Serrated incisors, Thin vermilion border, Short philtrum, Hypodontia, Sparse hair... OMIM:272440
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Tetrasomy 12P
Sparse hair, Cachexia, Short stature, Sparse eyebrow ORPHA:884
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, High, narrow palate, Protruding e... ORPHA:33364
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Conical tooth, Ab... OMIM:614941
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulati... OMIM:601853
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Thick eyebrow, Splenomegaly, Synophrys, Achilles tendon contracture, Elbow flexion ... OMIM:252940
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Hypohidrosis, Onycholysis, Ye... OMIM:104570
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Highly arched eyebrow, Synophrys, Sparse hair, T... OMIM:609460
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... OMIM:618234
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Tricuspid regurgitation, Ventricular septal defect, Slow-growing hair, Highly arched ... OMIM:617506
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Nail pits, Hepatic necro... OMIM:127550
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Cutaneous Mastocytoma
Maculopapular exanthema, Pruritus, Thickened skin, Erythema, Scaling skin ORPHA:79455
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... OMIM:612541
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle ORPHA:158681
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive m... OMIM:618342
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary toot... ORPHA:1787
H Syndrome
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Histiocytosis, Hearing impairment... ORPHA:168569
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Posteriorly rotated ears, Low anterior hairline, Hirsutism, Protruding ear, Long eyelashes, Evert... OMIM:616819
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... ORPHA:33110
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Atrophic gastritis, Chronic active hepatitis, Cataract, Asplenia, I... OMIM:240300
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card... ORPHA:66634
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Renal amyloidosis, Cutaneous amyloidosis, ... ORPHA:314652
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Pruritus, Splenomegaly, Le... ORPHA:98849
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Bowing of the legs, Lower limb undergrowth, Hirsutism, Brachydactyly OMIM:612847
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Protruding tongue, Generalized hypertrichosis, Gingival overgrowth, He... ORPHA:93399
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Dermatopathia Pigmentosa Reticularis
Reticulate pigmentation of oral mucosa, Palmoplantar hyperkeratosis, Hypohidrosis, Abnormal conju... OMIM:125595
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to ... ORPHA:50812
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Acrogeria
Excessive wrinkled skin, Micrognathia, Skin ulcer, Fine hair ORPHA:2500
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... OMIM:618131
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Monosomy 18P
Alopecia, Micrognathia, Carious teeth, Cleft palate, Protruding ear, Low posterior hairline, Abno... ORPHA:1598
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... OMIM:618652
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Corneal erosion, Erythema, Hyperkeratosis, Ichthyosis, Dry ski... ORPHA:816
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Vici Syndrome
Lymphopenia, Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardiomyopathy... OMIM:242840
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Median cleft palate ORPHA:2432
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Congenital hypertroph... OMIM:239850
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Micrognathia, Conical tooth, Protruding ear, Hyperconvex fingernails, Coarse hair, Widely spaced ... ORPHA:1071
Multiple Sulfatase Deficiency
Thick eyebrow, Cataract, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Coarse ... ORPHA:585
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... OMIM:615352
Cyclic Neutropenia
Premature loss of permanent teeth, Lymphopenia, Sinusitis, Recurrent skin infections, Cyclic neut... ORPHA:2686
Mucous Membrane Pemphigoid
Corneal opacity, Gingivitis, Oral mucosal blisters ORPHA:46486
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:618378
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Increased propo... OMIM:618982
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hyperactivity, Tented upper lip vermilion, Thin upper lip vermilion, Aggressive behav... OMIM:620075
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... OMIM:610163
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Splenomeg... OMIM:614866
Reactive Arthritis
Aortic regurgitation, Pericarditis, Pustule, Hyperkeratosis, Dystrophic fingernails, Abnormality ... ORPHA:29207
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteomyelitis, Skin rash, Eczema, Abnormality of the dentition, Abnorm... ORPHA:2314
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Atrichia, Periungual erythema, Scaling skin, Dystrophic fingernails, Abs... OMIM:308205
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Cardiofaciocutaneous Syndrome 3
Hyperhidrosis, Hyperkeratosis, Curly hair, Webbed neck OMIM:615279
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Facial palsy, Supernumerary nipple, Camptodactyly of finger, Sparse eyebrow... ORPHA:261349
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ... ORPHA:2414
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal heart mor... ORPHA:1666
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Downturned ... ORPHA:1807
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... ORPHA:3426
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Generalized hirsutism, Cachexia ORPHA:1933
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le... OMIM:613990
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Bresek Syndrome
Alopecia, Cryptorchidism, Cleft palate, Protruding ear, Low-set ears, Ichthyosis, Iris coloboma, ... ORPHA:85284
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Eec Syndrome
Decreased response to growth hormone stimulation test, Orofacial cleft, Coarse hair, Hypoplasia o... ORPHA:1896
Developmental And Speech Delay Due To Sox5 Deficiency
Mitral regurgitation ORPHA:313892
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Sensorineura... OMIM:253260
Hereditary Chronic Pancreatitis
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ... ORPHA:353
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Premature loss... OMIM:616353
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Decreased circulat... OMIM:615577
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Oligodontia, Everted lower lip vermilion, ... OMIM:614940
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Mucopolysaccharidosis Type 3
Hepatomegaly, Thick hair, Cardiomegaly, Splenomegaly, Synophrys, Flexion contracture, Atrioventri... ORPHA:581
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alop... ORPHA:50918
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus, Cutaneous amyloidosis OMIM:613955
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Premature graying of hair, Bone marrow hypocellularity, Nail dystrophy, Abnormally ... OMIM:619767
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,... ORPHA:69126
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:1515
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... ORPHA:65682
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Hemophagocytosis, Neu... OMIM:603552
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Micrognathia, Abnormal hair whorl, Cryptorchidism, High, narro... ORPHA:2872
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... OMIM:269200
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Hyp... OMIM:150400
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary arterial hypertension OMIM:619064
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... ORPHA:254892
Q Fever
Anorexia, Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculop... ORPHA:781
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, High, narrow palate, Wide mouth, Downturned corners of mouth, Sparse hair OMIM:273390
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Hepatomegaly, Absence of lymph node germinal center, Splenom... OMIM:308230
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar... ORPHA:247353
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Concave nail, ... OMIM:190350
Congenital Rubella Syndrome
Cataract, Skin rash, Corneal opacity, Splenomegaly, Patent ductus arteriosus, Sensorineural heari... ORPHA:290
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis ORPHA:231
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Thin upper lip vermilion, Eczema, Aggressive behavior, Carious teeth, Pica,... OMIM:620191
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Alopecia, Small pituitary gland, Hypodontia OMIM:612079
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... OMIM:249270
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Eczema, Decreased response to growth hormone stimul... ORPHA:79323
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Skin rash, Heart block, Capillary leak, Reduced left ventricular ejection fraction, ... ORPHA:542323
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia ORPHA:75233
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomeg... OMIM:209950
Roifman Syndrome
Thin upper lip vermilion, Eczema, Hyperconvex nail, Eosinophilia, Recurrent pneumonia, Prominent ... ORPHA:353298
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hemolytic anemia, Chilblains, Portal hypertension, Pericardial effusi... OMIM:619487
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Acne, Myocardial infar... ORPHA:117
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema ORPHA:83453
Stiff-Person Syndrome
Tachycardia, Anemia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffne... OMIM:184850
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Penetrat... ORPHA:548
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Cataract, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia ... OMIM:257850
Bartsocas-Papas Syndrome
Median cleft lip, Corneal opacity, Alopecia totalis, Micrognathia, Hypoplastic toenails, Cleft pa... ORPHA:1234
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Skin ulcer, Arthritis, ... ORPHA:91138
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno... OMIM:614185
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia, Psoriasiform dermatitis OMIM:106300
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Pericardial effusion, ... OMIM:618775
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Osteomyelitis, Anhidrosis, Keratitis, Corneal scarring, Nail dy... OMIM:256800
Adams-Oliver Syndrome 2
Alopecia, Micrognathia, Low anterior hairline, Protruding ear, Developmental cataract, Low-set ea... OMIM:614219
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit... OMIM:611962
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Atopic dermatitis, Lymphopenia, Thrombocytopenia,... OMIM:618624
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, High... ORPHA:261330
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Atopic dermatitis, Microtia, High palate, Hypodontia, Sparse hair OMIM:616854
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... ORPHA:978
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum, Sterile arthritis, H... OMIM:604416
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... OMIM:256550
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Roifman Syndrome
Thin upper lip vermilion, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prominent eyel... OMIM:616651
Gm1 Gangliosidosis
Mandibular prognathia, Corneal opacity, Narrow mouth, Patent ductus arteriosus, Splenomegaly, Thi... ORPHA:354
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Hyperkeratosis, Abnormal cornea morphology, Iris coloboma ORPHA:2611
Brunet-Wagner Neurodevelopmental Syndrome
Low anterior hairline, Self-injurious behavior, Thick vermilion border, Thin eyebrow, Abnormal re... OMIM:619690
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Low anterior hairline, Muscular dystrophy OMIM:613153
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Cachexia, Nail dystrophy, Nail dysplasia, Anemia OMIM:175500
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Cleft palate, Persi... OMIM:300946
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Hypohidrosis, Nail dysplasi... OMIM:612783
Autoimmune Polyendocrinopathy Type 4
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepa... ORPHA:227990
Galactosialidosis
Corneal opacity, Hearing impairment ORPHA:351
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blephari... ORPHA:254478
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Aa Amyloidosis
Renal amyloidosis, Amyloidosis, Hypothyroidism, Adrenal insufficiency ORPHA:85445
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... ORPHA:251393
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Autoimmune Polyendocrinopathy Type 3
Alopecia, Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thromb... ORPHA:227982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... OMIM:613155
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Cataract, Oral mucosal blisters, Narrow mouth, Corneal scarring, Conjunctivitis, Nail d... OMIM:226600
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Satoyoshi Syndrome
Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Abnormal femur morphology, ... ORPHA:3130
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Micrognathia, Thin vermilion border, Short philtrum, Sparse hair, Macrotia, Aplasia/Hypoplasia of... ORPHA:261304
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... OMIM:305100
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Posteriorly rotated ears, Supernumerary nipple, Abnormality of the dentition, Sensorine... ORPHA:3224
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Low posterior hairline, Downturned corners of mouth, Self-injurious beh... OMIM:613174
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An... ORPHA:91547
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Anorexia, Cachexia, Myocarditis, Mediastinal lymphadenopath... ORPHA:3452
Donohue Syndrome
Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Fasting hypog... OMIM:246200
Mucolipidosis Type Iii
Craniofacial hyperostosis, Acne, Cleft palate, Corneal opacity ORPHA:577
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Alopecia, Chronic active hepatitis, Short statu... OMIM:203800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Hypoplastic toenails, Dilated cardiomyopathy, Increased muscle lipid ... OMIM:608836
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Abnormal... OMIM:301029
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Amyloidosis, Familial Visceral
Splenomegaly, Generalized amyloid deposition, Skin rash OMIM:105200
Dermatoosteolysis, Kirghizian Type
Abnormality of the dentition, Keratitis, Osteoarthritis, Skin ulcer, Oligodontia, Dystrophic fing... ORPHA:1657
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure OMIM:619355
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Cryptorchidism, Acute leukemia, Hypohidrosis, Hyperkeratosis, Attention deficit ... ORPHA:281090
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Epidermal acanthosis ORPHA:199267
Hereditary Acrokeratotic Poikiloderma
Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Open bite, Skin ulcer, Gingival ... ORPHA:2907
Legionnaires Disease
Pericarditis, Anorexia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphadenop... ORPHA:549
Cardiofaciocutaneous Syndrome 1
Micrognathia, Deep philtrum, Hyperhidrosis, High palate, Sparse hair, Absent eyebrow, Absent eyel... OMIM:115150
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Anemia OMIM:613313
Congenital Myopathy 15
Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi... OMIM:620161
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Orofacial cleft, ... OMIM:601701
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Eczema OMIM:618348
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Agel Amyloidosis
Tongue atrophy, Cataract, Pruritus, Cutis laxa, Keratoconjunctivitis sicca, Abnormal spleen morph... ORPHA:85448
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Goiter, Decreased... ORPHA:95715
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Short stature, Low alkaline phosphatase OMIM:619985
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Anemia, Hepatomegaly OMIM:606069
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of ha... OMIM:300406
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hypoplasia of ... ORPHA:231226
Hutchinson-Gilford Progeria Syndrome
Alopecia, Osteolysis, Generalized osteoporosis OMIM:176670
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Lowry-Maclean Syndrome
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Hypop... ORPHA:2409
Oculocerebrocutaneous Syndrome
Alopecia, Congenital hip dislocation OMIM:164180
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Micrognathia, Sparse eyebrow, Cryptorchidism, Carious teeth, Retrognathia, Dry ... OMIM:613026
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Ablepharon Macrostomia Syndrome
Absent eyebrow, Corneal opacity, Redundant skin, Abnormal hair pattern, Absent eyelashes, Hypopla... ORPHA:920
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Short stature, Abnormal hair pattern, Aggressive behavior, Cachexia, Synophrys, Ob... ORPHA:85293
Chime Syndrome
Abnormal dental morphology, Corneal opacity, Abnormality of the dentition, Supernumerary tooth, E... ORPHA:3474
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Decreased response to growth hormone stim... OMIM:615280
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Premature graying of hair, Microcornea, High palate, Sparse ... OMIM:268400
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Abnormal pinna morphology, Abnormality of the anterior pituitary, Coarse ... ORPHA:75389
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Brachydactyly, Acne, Abnormality of the humerus, Wide anterior fontanel, ... ORPHA:3098
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Eczema, Highly arched eyebrow, Micrognathia, Cryptorchidism, Repetitive compulsive... ORPHA:352490
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... ORPHA:2228
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Skin rash, Autoimmune hemolytic anemia ORPHA:90036
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Sparse hair, Abnormal repetitive mannerisms, Self-mutilation, Diastema, Gi... OMIM:212066
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypoplastic f... ORPHA:257
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Thin vermilion border, Corneal opacity, Narrow mouth ORPHA:2370
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormal pinna morphology, Cleft upper lip, Abnormality of the dentition, Hypoplastic nipples, Sm... OMIM:273400
High Altitude Pulmonary Edema
Leukocytosis, Tachycardia ORPHA:330012
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Underdeveloped superior crus of antihelix, Eczema, Posteriorly rotated... ORPHA:369950
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Elevated hemoglobin A1c, Spars... OMIM:619127
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology, Decreased pr... ORPHA:543
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Hypodontia, Nail dysplasia, Small nail, Sparse hair, High anterio... OMIM:119580
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Splenomegaly, Cry... OMIM:613563
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic der... OMIM:603165
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... ORPHA:93672
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenoco... ORPHA:100083
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Redundant skin, Wide mouth, Sparse or absen... ORPHA:1231
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Cataract, Corneal opacity, Aggressive behavior, ... OMIM:152950
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Braddock-Carey Syndrome 1
Curly hair, Posteriorly rotated ears, Pierre-Robin sequence, Cleft palate, Thick vermilion border... OMIM:619980
Schnitzler Syndrome
Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Splenomegaly, Diar... OMIM:618495
2Q23.1 Microdeletion Syndrome
Hyperactivity, Tented upper lip vermilion, Macrodontia, Highly arched eyebrow, Cryptorchidism, Sy... ORPHA:228402
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Posteriorly rotated ears, Corneal opacity, Cryptorchidism, Thrombocytopenia,... OMIM:301056
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion ORPHA:163525
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Polycystic ovaries, Sparse hair, Dry skin, Subcapsular cataract OMIM:268020
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... ORPHA:294023
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing... ORPHA:221008
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Synophrys, Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the g... OMIM:617877
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Arthritis, B lym... ORPHA:397596
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Lymphadenopathy... OMIM:613101
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bacterial endocarditis, A... ORPHA:97214
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Aortic valve stenosis, Cervical myelopathy, Mitral regurgitation OMIM:253010
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Autoimmunity, Megaloblastic anemia, Anem... OMIM:617780
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Cryptorchidism, ... ORPHA:1101
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Melioidosis
Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess... ORPHA:31202
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Abnormal lym... OMIM:612840
Macs Syndrome
Eclabion, Irregular dentition, Alopecia, Redundant skin, Micrognathia, Sparse eyebrow, Cryptorchi... OMIM:613075
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Mitral valve prolapse, R... OMIM:617402
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sp... OMIM:181270
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Anhidrosis, Abnormal dental morphology, Abnormality of the dentition, C... ORPHA:69087
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Micrognathia, Sparse eyebrow, Abnormality of the dentition, Supernumerary tooth... ORPHA:77258
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100080
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... ORPHA:83471
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing... ORPHA:221016
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial f... OMIM:253800
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology, Osteolysis ORPHA:296
Myeloma, Multiple
Amyloidosis OMIM:254500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Hypoplasia ... OMIM:617425
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Cataract, Chro... ORPHA:3453
Trichothiodystrophy 2, Photosensitive
Short stature, Coarse hair, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Tiger t... OMIM:616390
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Idiopathic Achalasia
Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... OMIM:619573
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Cerebrooculofacioskeletal Syndrome 2
Cataract, Micrognathia, Developmental cataract, Sparse hair, Hearing impairment OMIM:610756
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p... ORPHA:740
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Microdontia, Abnormal repe... OMIM:619293
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Failure to thrive, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
Sialidosis Type 1
Cataract, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Thick lower lip vermil... ORPHA:812
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Hypertension ORPHA:320
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Aggressive behavior, Hypoplasia of the maxilla, Cryptorchidism, Protruding ear, Patchy alopecia, ... ORPHA:85279
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Ulcerative ... ORPHA:555905
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... OMIM:214500
Trichothiodystrophy 5, Nonphotosensitive
Mandibular prognathia, Brittle hair, Slow-growing hair, Sparse eyebrow, Wide mouth, Reduced hair ... OMIM:300953
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Leukocytosis, Chronic he... ORPHA:3260
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, High palate... OMIM:619312
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Hypoplastic toenails, Sp... OMIM:616589
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Tyrosinemia Type 2
Corneal opacity, Hyperhidrosis, Hyperkeratosis, Palmoplantar keratoderma, Malar flattening, Abnor... ORPHA:28378
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myositis, Skin rash, Recurrent skin infections, Abscess, Myocarditis, Increas... ORPHA:36234
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pancytopenia, Facial hypotonia, Highly arched eyebrow, Hepatosplenomegaly, ... ORPHA:309282
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Protruding ear, Long philtrum, Sp... OMIM:190351
Lymphatic Malformation 13
Hydrocele testis, Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary arterial ... OMIM:620244
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Erythrodontia, Hemolytic anemia, Splenomegaly, Thickened skin, Loss of ... OMIM:263700
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Short stature, Eczema, Postnatal grow... OMIM:212750
Meckel Syndrome 14
Occipital encephalocele, Mitral regurgitation, Tricuspid regurgitation, Single ventricle OMIM:619879
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Caspase 8 Deficiency
Pneumonia, Eczema, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:607271
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Oral mucosal blisters, Pruritus, Carious teeth, Gastrointestinal ... ORPHA:79410
Mucopolysaccharidosis Type 1
Sinusitis, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing impai... ORPHA:579
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Pruritus, Splenomegaly, Lymphadenopathy, Weight loss, Bone mar... ORPHA:391
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... ORPHA:69735
Coffin-Siris Syndrome 7
Sparse scalp hair, Hyperactivity, Thin upper lip vermilion, Severe temper tantrums, Posteriorly r... OMIM:618027
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Clubbing, Hyperhidrosis, Hyperostosis, Periostosis OMIM:614441
Anauxetic Dysplasia 2
Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair OMIM:617396
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Refsum Disease
Skeletal muscle atrophy, Heart block, Splenomegaly, Cardiomyopathy, Nail dysplasia ORPHA:773
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Sulfite Oxidase Deficiency, Isolated
Sulfite oxidase deficiency, Agitation, Eczema, Fine hair OMIM:272300
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Diastasis recti, Crypto... OMIM:601776
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse e... OMIM:618419
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Alopecia, Cataract, Selective tooth agenesis, Micrognathia, Microcytic ... ORPHA:2959
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Cryptorchidism, Mi... OMIM:151100
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Mogs-Cdg
Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, Hydrocele ... ORPHA:79330
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Posteriorly rotated ears, Corneal dystrophy, Patchy alopecia, Low-set e... OMIM:617763
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Microcornea, Follicular hyperkeratosis, Comedonal acne, Iris coloboma OMIM:615147
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancytopenia, Splenomegaly, Chole... OMIM:614576
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Neutropenia, Bronchiectasis, Aspiration pneumonia, Dysphagia, Sparse h... OMIM:618253
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Generalized hirsutism, Skin ulcer ORPHA:2218
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Corneal opacity, External ear malformation, Cryptorchid... ORPHA:1647
Dermoids Of Cornea
Corneal opacity OMIM:304730
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increased proportion... ORPHA:98848
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Redundant skin, Micrognathia, Sparse eyebrow, High, narr... OMIM:230740
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, Low-set ears, B... ORPHA:228390
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hashimoto thyroiditis ORPHA:3143
Down Syndrome
Cataract, Protruding tongue, Abnormality of the dentition, Conductive hearing impairment, Narrow ... ORPHA:870
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, P... OMIM:607115
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Prominent ear helix, Synophrys, Low anterior hairline, Large earlobe, L... ORPHA:411986
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Nager Syndrome
Low-set, posteriorly rotated ears, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxill... ORPHA:245
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Abnormal hair pattern, Non-midlin... ORPHA:1770
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Brittle hair, Short stature, Bilateral cryptorchidism, Ichthyosis, Congenital ichthy... OMIM:616395
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... ORPHA:2980
Lig4 Syndrome
Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Erythema, Low anterior hairline, Lympha... ORPHA:99812
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Lymphaden... ORPHA:536
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis OMIM:146700
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Hyperkeratosis with erythema, Hypoplasia of the nasal bone, Coarse hair, Sparse hair OMIM:118650
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Oculomaxillofacial Dysostosis
Median cleft lip, Corneal opacity, Micrognathia, Abnormal eyelash morphology, Abnormality of the ... ORPHA:1794
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... ORPHA:284984
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Hydrocele testis, Coa... OMIM:605309
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo... OMIM:606545
Neonatal Marfan Syndrome
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... ORPHA:284979
Marshall Syndrome
Cataract, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:560
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Rhabdomyosarcoma, Acute lymphoblastic leukemia, Muscular dystrophy, Subvalv... ORPHA:1052
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Dowling-Degos Disease
Abnormal fingernail morphology, Pruritus, Arthritis, Hyperkeratosis, Skin vesicle, Hyperkeratotic... ORPHA:79145
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Mi... ORPHA:2462
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Dextrotransposition of t... OMIM:618619
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity ORPHA:98827
Sialidosis Type 2
Splenomegaly, Corneal opacity, Hearing impairment ORPHA:87876
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conju... OMIM:240500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Failure to ... ORPHA:83617
Familial Benign Copper Deficiency
Diaphyseal thickening, Early balding, Acne, Anemia ORPHA:1551
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Downturned corners of ... OMIM:616817
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Acne ORPHA:3000
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... ORPHA:3464
Glass Syndrome
Dental crowding, Micrognathia, Conical tooth, Oligodontia, High palate, Sparse hair, Hyperactivit... OMIM:612313
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... OMIM:164310
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Giant Cell Arteritis
Alopecia, Pericarditis, Anorexia, Mediastinal lymphadenopathy, Skin ulcer, Hyperhidrosis, Arthrit... ORPHA:397
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Skin rash, Eczema, Portal hypertension, Raynaud phenomenon, Splenomeg... OMIM:615688
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Eczema, Cryptorchid... ORPHA:464306
Xp22.13P22.2 Duplication Syndrome
Mandibular prognathia, Macroorchidism, Polycystic ovaries, High palate, Attention deficit hyperac... ORPHA:284180
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Porphyria Variegata
Proximal muscle weakness in upper limbs, Tachycardia, Hypertension, Anemia, Hypertrichosis ORPHA:79473
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100082
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Myopathy, Mitral regurgitation, Follicular hype... OMIM:614557
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Anorexia, Portal hypertension, Pruritus, Hypersplenism, Le... ORPHA:98850
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... ORPHA:50814
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni... OMIM:615582
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubbing, Palmopla... OMIM:259100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Corneal opacity, Oral mucosal blisters, Erythema, Palmoplant... ORPHA:79396
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Goiter, Elevated circulating thyroid-stimulating hor... ORPHA:99832
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, ... ORPHA:2095
Fanconi Anemia, Complementation Group S
Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Ovarian neoplasm, Long ey... OMIM:617883
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Micrognathia, Synophrys, Sensorineural hearing impairment, Low anterior... ORPHA:391408
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Hypotension, Thro... ORPHA:20
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
American Trypanosomiasis
Hepatomegaly, Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arr... ORPHA:3386
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... OMIM:265400
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... ORPHA:79083
Bullous Pemphigoid
Psoriasiform dermatitis, Diabetes mellitus, Eczema, Autoimmunity ORPHA:703
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis OMIM:277600
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia OMIM:229700
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat... OMIM:608328
Rosaï-Dorfman Disease
Erythema, Anemia, Lymphadenopathy ORPHA:158014
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Thickened skin, Skin ulcer, ... ORPHA:2526
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, An... ORPHA:1120
Riboflavin Transporter Deficiency
Cachexia, Dysphagia, Aggressive behavior ORPHA:97229
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Short stature, Postnatal growth retardation, Fine hair, Long eyelashes... ORPHA:231137
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Overfolded helix... ORPHA:79113
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ... OMIM:617061
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Nail dystrophy, Follicular hyperkeratosis, Oral leukoplakia, Onychog... OMIM:167200
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Lymphade... ORPHA:3226
Granulomatous Slack Skin
Abnormal lymph node morphology, Erythema, Redundant skin, Cutis laxa ORPHA:33111
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Stoma... OMIM:246400
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs... OMIM:620282
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Cryptorchidism, Anencephaly, Small thenar eminence, Pulmonic stenosis, Camptodacty... OMIM:619148
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Kawasaki Disease
Abnormality of nail color, Pericarditis, Skin rash, Myocarditis, Cervical lymphadenopathy, Leukoc... ORPHA:2331
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Abnormality of dental color, Corneal opacity, Ichthyosis OMIM:163200
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... ORPHA:226313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:603909
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Short stature, Intrauterine ... OMIM:608154
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Aorti... ORPHA:464311
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... ORPHA:1517
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Cardiofaciocutaneous Syndrome
Brittle hair, Redundant skin, High palate, Thickened helices, Sparse hair, Dystrophic fingernails... ORPHA:1340
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn... ORPHA:139507
Limb-Mammary Syndrome
Cleft hard palate, Protruding ear, Aplasia of the ovary, Bifid uvula, Alopecia, Psoriasiform derm... ORPHA:69085
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Dilated cardiomyopathy, Sparse hair, Lymphopenia, Anemia OMIM:616541
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Deafness, X-Linked 7
Posteriorly rotated ears, Atresia of the external auditory canal, Thick eyebrow, Hearing impairment OMIM:301018
Ichthyosis, X-Linked
Testicular neoplasm, Cryptorchidism, Hypohidrosis, Congenital ichthyosiform erythroderma, Palmopl... OMIM:308100
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Acanthosis nigricans, Hypopl... ORPHA:2457
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Abnormal eyelash morphology, Dilated ca... ORPHA:2556
Acromesomelic Dysplasia 4
Synophrys, Third degree atrioventricular block, Umbilical hernia, Generalized hirsutism, Thick ey... OMIM:619636
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia ORPHA:480864
Warty Dyskeratoma
Abnormal fingernail morphology, Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, ... ORPHA:69745
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormal fingertip morphology, Abnormal hair morphology, Osteolysis, Nail dystrophy, Os... ORPHA:90154
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... OMIM:620351
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cryptorchidism, S... OMIM:617063
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Alopecia, Abnormal pulmonary valve morphology, Portal... ORPHA:974
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Thickened sk... OMIM:601812
4Q21 Microdeletion Syndrome
Abnormality of the dentition, Synophrys, Downturned corners of mouth, Self-injurious behavior, Th... ORPHA:238750
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... ORPHA:292
Hec Syndrome
Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Pustular rash, Bronc... OMIM:619381
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Thick hair, Excessive wrinkled skin, Abnormal cornea morphology, Long philtrum, ... ORPHA:357058
Darier-White Disease
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyper... OMIM:124200
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Dysphagia, Hirsutism, Hypertri... OMIM:252930
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:79086
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:97287
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, High palate, R... OMIM:615637
Werner Syndrome
Sparse scalp hair, Cataract, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Ovarian ne... ORPHA:902
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Revesz Syndrome
Aplastic anemia, Leukocoria, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, S... OMIM:268130
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic de... OMIM:608612
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Short phi... OMIM:609425
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Cryptorchidism, Cutis laxa, Corneal arcus, Low-set ears, Narrow mouth, Sparse hair, Mac... OMIM:219150
Alazami Syndrome
Abnormal eating behavior, Sparse eyebrow, Thickened skin, Wide mouth, Short philtrum, Widely spac... ORPHA:319671
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Posteriorly rotated ears, Cryptorchidism, Prominent ear helix, Developmental glaucoma, ... OMIM:614438
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis ORPHA:435651
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Aggressive behavior, Wide mout... OMIM:618825
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair, Widely spaced teeth, Bruxism, Abnormal repetitive mannerisms,... OMIM:616351
Oculodentodigital Dysplasia
Mandibular prognathia, Brittle hair, Micrognathia, Microcornea, Conductive hearing impairment, Sp... ORPHA:2710
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Leukocytosis, Thrombocytopenia, Bradycardia, Hypotension... ORPHA:90051
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Micrognathia, Absent eyelashes, Cryptorchidism, Ichthyosis, Small nail,... ORPHA:166035
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Abnormality of cartilage of external ear,... ORPHA:2399
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Morbilliform rash, Internal ... ORPHA:99827
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Keratoconus, Sparse eyelashes, Microg... ORPHA:2067
Thyroid Dyshormonogenesis 1
Dry skin, Hypothyroidism, Goiter OMIM:274400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Pruritus, Jaundice, Cholestati... OMIM:613404
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Vacuolated lym... ORPHA:565612
Carcinoid Syndrome
Tricuspid regurgitation, Right ventricular failure, Heart murmur, Myopathy, Palpitations, Facial ... ORPHA:100093
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Mandibular prognathia, Anteverted ears, Hirsutism OMIM:618087
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Developmental And Epileptic Encephalopathy 64
Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Sparse eyebrow, T... OMIM:618004
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Hyp... OMIM:613385
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Ast... OMIM:618067
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Gingivitis, Furrowed tongue, Hyp... OMIM:615726
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Cataract, Abnormal fingernail morphology, Underdeveloped antitragus, A... ORPHA:2036
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Mast... ORPHA:66661
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Aggressive behavior, Bilateral cry... ORPHA:544488
Hatipoglu Immunodeficiency Syndrome
Failure to thrive, Pancytopenia, Eczema, Proportionate short stature, Cryptorchidism, Thickened s... OMIM:620331
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Takayasu Arteritis
Increased inflammatory response, Anorexia, Skin ulcer, Weight loss, Arthritis, Inflammatory abnor... ORPHA:3287
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia ORPHA:263455
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Relapsing Polychondritis
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa... ORPHA:728
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly ORPHA:772
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Borjeson-Forssman-Lehmann Syndrome
Cataract, Cryptorchidism, Orofacial cleft, Large earlobe, Sparse hair, Decreased testicular size,... ORPHA:127
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Sensorineural hearing impairment, Bilateral cleft lip and palate, Post... ORPHA:1473
Colchicine Poisoning
Alopecia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Hypotension, Cardioge... ORPHA:31824
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... ORPHA:280365
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Anemia, Neutropenia OMIM:604250
Chronic Granulomatous Disease
Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Mediastinal lymphadenopathy, Spleno... ORPHA:379
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Dend Syndrome
Hyperglycemia, Autoimmune antibody positivity ORPHA:79134
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Skin u... ORPHA:79493
Scarf Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Low posterior hairline, Cutis laxa, Hypoplasti... ORPHA:3134
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Cryptorchidism, Sensorineural hearin... OMIM:613224
Oculodentodigital Dysplasia
Dry hair, Cataract, Slow-growing hair, Abnormal pinna morphology, Selective tooth agenesis, Cleft... OMIM:164200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Osteomyelitis, Skin rash, Failure to thrive in infancy, Neutrophilia, Abscess, Pust... OMIM:612852
Fucosidosis
Corneal opacity, Abnormality of the dentition, Hyperhidrosis, Generalized hyperkeratosis, Abnorma... ORPHA:349
Hennekam Syndrome
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo... ORPHA:2136
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level OMIM:615954
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Skin ulcer, Granuloma, Abnormality of neutrophil ... ORPHA:542592
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Thrombocytopen... ORPHA:31150
Serotonin Syndrome
Hypertension, Tachycardia, Rhabdomyolysis, Hypotension ORPHA:43116
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Corneal opacity, Abnormality of canine, Syno... ORPHA:364577
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Pancreatitis ORPHA:70578
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... ORPHA:99931
Restrictive Dermopathy
Short nail, Epidermal hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse eye... ORPHA:1662
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Adrenal hypoplasia, Epidermal hyperkeratosis, Absent eyelashes, Spa... OMIM:275210
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Oral ulcer, EBV encephalitis, U... OMIM:615122
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Ane... ORPHA:520
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Postnatal growth retardation, Sparse scalp hair, Fine hair ORPHA:2324
Cowden Syndrome 1
Hyperthyroidism, Acrokeratosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovari... OMIM:158350
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Posteriorly rotated ears, Dental crowding, Abnormality of the middle e... ORPHA:2789
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Pyod... ORPHA:486
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Pallor, Male hypog... ORPHA:91347
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... OMIM:608184
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Abnormality of the de... ORPHA:910
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mou... ORPHA:955
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
White-Sutton Syndrome
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Tics, Short philtrum, High pala... OMIM:616364
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Hyperconvex nail, Eczema, Long philtrum, Sparse hair, Hearing impairment OMIM:619721
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
De Barsy Syndrome
Delayed eruption of teeth, Cataract, Corneal opacity, Cryptorchidism, Patent ductus arteriosus, S... ORPHA:2962
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Dilated cardiomyopathy OMIM:603736
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Mixed hearing impairment, Congenital sensorineural hearing impairment, Leukonychia, Palmoplantar ... ORPHA:2698
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Eczema, Pancreatitis OMIM:606054
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Limitation of joint... ORPHA:90153
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Short stature, Eczema, Autoimm... ORPHA:391487
Nicolaides-Baraitser Syndrome
Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth... OMIM:601358
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:2348
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity, Cleft palate ORPHA:90654
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis, Toenail dysplasia OMIM:615907
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Iris colob... OMIM:234100
Mucopolysaccharidosis, Type Vii
Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Hirsutism, Gingival overgrowth, ... OMIM:253220
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebro... OMIM:618644
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Thrombocytopenia, Cervical lymphadenopathy, Lymphadenopathy, ... ORPHA:83313
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Micrognathia, Downturned corners of mouth, Conductive hearing impairment, Severe sensorineural he... OMIM:620186
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Hepatomegaly, Palmoplantar keratoderma, Dysphagia ORPHA:2198
Ane Syndrome
Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Abnormal granu... ORPHA:98907
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro... OMIM:619693
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... ORPHA:100026
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis, Hepatomegaly OMIM:251000
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Redundant skin, Hypoplastic toenails, ... ORPHA:3447
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Recurrent skin infections, Dilated cardiomyopathy, Flexion contracture, ... ORPHA:89842
Immunodeficiency 36 With Lymphoproliferation
Autoimmunity, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Decreas... OMIM:616005
Adult Syndrome
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Eczema, Sparse ax... OMIM:103285
Cri-Du-Chat Syndrome
Microretrognathia, Hyperactivity, Cataract, Abnormal pinna morphology, Hearing impairment, Aggres... OMIM:123450
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity, Aggressive behavior, Abnormality of the dentition, Synophrys, Thin ve... ORPHA:391307
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphadenopathy OMIM:254400
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Maculopapular exanthema, AA amyloidosis, Hepatic amyloidosis, Erysipelas OMIM:142680
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Skeletal muscle atrophy OMIM:312750
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cataract, Uplifted earlobe, Recurrent pneumonia, Cleft palate, Furrow... OMIM:616449
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, A... ORPHA:647
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Cataract, Sparse eyebrow, Fine hair, Protruding ear, Low-set ears... OMIM:617988
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Desbuquois Syndrome
Sparse hair, Low-set, posteriorly rotated ears, Abnormal eyelash morphology ORPHA:1425
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Thrombocytopenia, Malar rash, Prolonged QTc interval, Anemia ORPHA:231111
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Lymphadenopathy, B lym... OMIM:618048
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Thrombocytopenia OMIM:253270
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Anhidrosis, Conical tooth, Splenomegaly, Hypohidrosis, Aplasia of the sweat gl... OMIM:612132
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombo... ORPHA:293978
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Self-injurious behavior, Severe failure to thrive, Intrauterine growth r... ORPHA:371364
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Dental crowding, Thin nail, Eczema, Aggressive behavior, Delayed eruption of primary ... OMIM:617799
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Thromboc... ORPHA:508542
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Acne, Paradoxical increased cortisol secretion on dex... ORPHA:189427
Fish-Eye Disease
Splenomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Low posterior hairline, Cardiomyopathy, Myopathy, Nemaline bodies OMIM:616549
Zttk Syndrome
Aortic regurgitation, Curly hair, Ventricular septal defect, Sparse eyebrow, Flexion contracture,... OMIM:617140
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid... ORPHA:2108
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Small earlobe, Highly... OMIM:608156
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... ORPHA:185
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:100075
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Hypot... ORPHA:48377
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular carcinoma, Abnormal h... ORPHA:2088
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Abnorma... ORPHA:534
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn... ORPHA:47612
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblai... OMIM:615846
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Co... ORPHA:2908
Hurler Syndrome
Corneal opacity, Abnormality of the tonsils, Splenomegaly, Macroglossia, Rhinitis, Thick vermilio... ORPHA:93473
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H... ORPHA:255210
Smith-Magenis Syndrome
Mandibular prognathia, Hyperactivity, Everted upper lip vermilion, Abnormality of the dentition, ... OMIM:182290
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel... OMIM:612863
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Thyroi... OMIM:615108
Congenital Toxoplasmosis
Thrombocytopenia, Lymphadenopathy, Anemia, Hearing impairment ORPHA:858
Acromegaly
Abnormal fingernail morphology, Acne, Synophrys, Hypertension, Mitral regurgitation, Hypertrophic... ORPHA:963
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope, Anemia ORPHA:230
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short stature, Eczema, Highly arched eyebrow, Aggressive behavior, Obesity, Self-i... OMIM:600430
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Bronchiectasis, Hepatitis, Neutrope... ORPHA:1163
Reynolds Syndrome
Hepatomegaly, Skin rash, Pruritus, Jaundice, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, C... ORPHA:779
Cinca Syndrome
Purpura, Abnormality of neutrophils, Retrobulbar optic neuritis, Sensorineural hearing impairment... ORPHA:1451
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Mitral regurgitation, Patent foramen ovale ORPHA:457395
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Arthritis, Panni... OMIM:617591
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Synophrys, Recurrent pneumonia, Low anterior hairline, Thrombocytopen... OMIM:617303
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Abnormality of the dentition, Sensori... ORPHA:2315
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Bone-marrow foam cells, ... ORPHA:275761
Joubert Syndrome 37
Posteriorly rotated ears, Cryptorchidism, High palate, Low-set ears, Sparse hair, Decreased testi... OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Cataract, High palate, Short philtrum, Long philtrum, Sparse hair OMIM:614105
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Rhabdomyolysis, Retin... ORPHA:509
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Hyperhidrosis, Premature graying of hair, Leukopenia, Conjunctiv... OMIM:305000
Tonne-Kalscheuer Syndrome
Short stature, Aggressive behavior, Concave nail, Cryptorchidism, Fine hair, Growth delay, Self-i... OMIM:300978
Fontaine Progeroid Syndrome
Atrial septal defect, Sparse scalp hair, Tricuspid regurgitation, Bicuspid aortic valve, Absent n... OMIM:612289
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Thick hair, Redundant skin, Carious teeth, Cutis laxa, Excessive wrinkled sk... ORPHA:357074
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, Lymphocytosis,... OMIM:308240
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Severe... ORPHA:440713
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Synophrys, High palate, Sparse hair, Abnormal repetitive mannerism... OMIM:615485
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Alopecia, Acne, Isosexual precocious pu... ORPHA:90795
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy, Hypertension, Decreased testicular size, Hirsutism OMIM:209900
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Anemia ORPHA:139411
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Minimal change glomerulonephritis, Thrombocytopenia, Abnormal primary molar morp... ORPHA:1830
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Thrombocytopenia, Hepatitis, Leukopenia, Conjunctivitis... ORPHA:454836
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Cryptorchidism, Synophrys, Low poste... OMIM:618929
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, H... ORPHA:169090
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Arachnodactyly, Iridocyclitis, Pancreatitis, Adducted thumb ORPHA:412057
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... OMIM:613011
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Geleophysic Dysplasia 3
Hepatomegaly, Mitral regurgitation OMIM:617809
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Normocytic anemia, Failure to thrive, Macrocytic anemia, Eosinophilia, Anorex... ORPHA:199299
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Sparse scalp hair, Alopecia, Down-sloping shoulders, Coxa valga, Joint stiffness, Fle... OMIM:248370
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis, Hypoperista... OMIM:611376
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Mitral valve p... ORPHA:444072
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, Micrognathia, High palate, Short philtrum, Sparse hair, Microdontia, Self-mutila... ORPHA:251028
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Sensor... OMIM:617796
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Gingival fibromatosis, Skin ulcer ORPHA:2591
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma OMIM:145001
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... OMIM:209920
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... OMIM:619981
Autosomal Dominant Spastic Paraplegia Type 9A
Mitral regurgitation, Lower limb hypertonia ORPHA:447753
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Redundant skin, Cachexia, Self-mutilation ORPHA:52503
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Thyroi... OMIM:615109
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis ORPHA:86884
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly OMIM:238970
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Micrognathia, Narrow mouth, Splenomegaly, Thrombocytopenia, Hepatosp... OMIM:608013
Ramon Syndrome
Delayed eruption of teeth, Hypertrichosis, Gingival fibromatosis, Narrow palate, Hyperkeratosis, ... OMIM:266270
Turnpenny-Fry Syndrome
Aortic regurgitation, Sparse scalp hair, Torticollis, Facial hypotonia, Mitral valve prolapse, Tr... OMIM:618371
Adams-Oliver Syndrome 5
Hypoplastic toenails, Splenomegaly, Hypersplenism, Right atrial enlargement, Absent toenail, Umbi... OMIM:616028
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Cryptorchid... ORPHA:268261
Ruijs-Aalfs Syndrome
Cataract, Micrognathia, Posterior subcapsular cataract, Premature graying of hair, Sparse hair OMIM:616200
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Supern... ORPHA:466791
Supravalvular Aortic Stenosis
Pulmonic stenosis, Supravalvular aortic stenosis OMIM:185500
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... ORPHA:436159
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Dilatation of the ventricul... ORPHA:90348
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Acantholysis, Thrombocytopenia, Erythema, N... ORPHA:537
15Q Overgrowth Syndrome
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Mit... ORPHA:314585
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circul... ORPHA:525731
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Transketolase Deficiency
Cataract, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Self-injurious behavior, Conj... ORPHA:488618
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Alopecia, Pruritus, Myocarditis, Congestive heart failu... ORPHA:3385
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Splenomegaly, Thrombocytopenia, Cutis laxa, Fine hair, Truncal obesi... OMIM:222700
Systemic Sclerosis
Alopecia, Osteomyelitis, Pericarditis, Glomerulonephritis, Recurrent skin infections, Nail bed te... ORPHA:90291
Bartsocas-Papas Syndrome 2
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Bilateral cleft li... OMIM:619339
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication OMIM:259900
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Dysphagia, Lymphopenia, Throm... ORPHA:319218
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter... OMIM:307200
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Kniest Dysplasia
Hip contracture, Dumbbell-shaped long bone, Tracheomalacia, Delayed epiphyseal ossification, Limi... OMIM:156550
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Eczema, Highly arched eyebrow, Synophrys, Recurrent pneumonia, Sensorineural heari... OMIM:617751
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Iris hypopig... ORPHA:79431
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Decreased circulating total IgM, Nail dystrophy, Decreased circulatin... OMIM:620040
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan... ORPHA:158673
Free Sialic Acid Storage Disease
Splenomegaly, Skin ulcer, Iris hypopigmentation ORPHA:834
Scarf Syndrome
Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Low posterior hairline, Cutis la... OMIM:312830
Xylt1-Cdg
Joint laxity, Acne, Coxa valga, Synophrys, Flared metaphysis, Short long bone, Short femoral neck... ORPHA:370930
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... OMIM:300755
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Aortic valve atresia, Low anterior ... OMIM:220111
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo... OMIM:245660
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Bl... ORPHA:163934
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal, Abno... OMIM:221320
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Wagro Syndrome
Mandibular prognathia, Cataract, Dental crowding, Corneal opacity, Aggressive behavior, Micrognat... OMIM:612469
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis, Hyperhidrosis, Periosteal thickening of long tubular bones, Clubbing... OMIM:167100
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Rhabdomyolysis, Hypertension, Br... ORPHA:94093
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Recur... OMIM:301078
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular s... ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... OMIM:619534
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia ORPHA:348
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Recurrent pneumo... OMIM:619644
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Seborrheic dermatitis, Splenomegaly, Gingival overgrowth, Alveolar rid... OMIM:301072
8Q21.11 Microdeletion Syndrome
Cataract, Exaggerated cupid's bow, Eczema, Sclerocornea, Micrognathia, Abnormality of the dentiti... ORPHA:284160
Immunodeficiency 56
Cholangitis, Hepatic failure, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic h... OMIM:615207
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cryptorchidism,... OMIM:607812
Somatomammotropinoma
Abnormal fingernail morphology, Synophrys, Hypertension, Mitral regurgitation, Hypertrophic cardi... ORPHA:314769
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Cutaneous lichen amyloidosis, Increased circulat... OMIM:171400
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, Dry skin, Follicular hyperkeratosis, Delayed puberty ORPHA:486815
Focal Dermal Hypoplasia
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Corneal opacity, Abnorma... ORPHA:2092
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Thrombocytopenia, Giant platelets, Camptodactyly, Left ventricular hypertrophy, A... OMIM:611209
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Acne, Frontal balding, Synophrys, Cleft palate, Protruding ear, Short philtrum, Fa... ORPHA:247768
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Distal Duplication 6P
Abnormal hair quantity, Short stature, Abnormal eyelash morphology, Fine hair, Intrauterine growt... ORPHA:1745
Marburg Hemorrhagic Fever
Shock, Reticulocytosis, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Lymphopeni... ORPHA:99826
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Sensorineural hearing impair... ORPHA:2719
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Glomerulonephritis, Synophrys, Fine hair, Growth delay, Abnormal repetitive mannerisms OMIM:619428
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Corneal opacity, Corneal dystrophy, Aggressive behavior, Sparse eyebrow, Cryptorch... ORPHA:495875
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody positivity, Glycosuria, Hypergl... ORPHA:99885
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Adrenocorticotropic hormone excess OMIM:609981
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Pat... OMIM:610505
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Chronic otit... ORPHA:2750
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia ORPHA:50251
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Short nail, Flexion contract... OMIM:271640
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Reduced bone mineral density, Abnormality of th... ORPHA:428
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
22Q11.2 Deletion Syndrome
Micrognathia, Hypoplasia of the thymus, Short philtrum, Conductive hearing impairment, Chronic ot... ORPHA:567
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Tricuspid regurgitation, Abnormality of hair texture, Synophrys, Hypoplastic sw... ORPHA:73223
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Highly arched eyebrow, Frontal balding, Muscular ven... OMIM:612474
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... OMIM:141400
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Oral ulcer, Arthritis, Patchy alopecia, ... OMIM:109650
Cranioectodermal Dysplasia 3
Short nail, Micrognathia, Broad nail, Cutis laxa, Fine hair, Hypoplasia of teeth, Widely spaced t... OMIM:614099
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, Cleft upper lip, Peters an... OMIM:612582
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Mitral valve prolapse, Hematochezia, Telangiectasia, Mitral regurgitation, Anemia OMIM:175050
Familial Mediterranean Fever
Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Amyloidosis, Renal amyloidosis, Erysipelas OMIM:249100
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Thin eyebrow, Abnormal T-wave, ... ORPHA:2131
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... ORPHA:1855
Necrotizing Enterocolitis
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Sjogren-Larsson Syndrome
Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium, Ichthyosis OMIM:270200
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype... OMIM:601859
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat... ORPHA:589
Harel-Yoon Syndrome
Mandibular prognathia, Developmental cataract, Corneal opacity, Micrognathia OMIM:617183
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... OMIM:617253
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Morquio Syndrome C
Corneal opacity OMIM:252300
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Decreased response to growth hormone stimulation... OMIM:601808
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Mevalonic Aciduria
Normocytic hypoplastic anemia, Cataract, Posteriorly rotated ears, Skin rash, Fluctuating splenom... OMIM:610377
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Cryptorchidism, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mit... OMIM:615873
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Atrial septal defect, Paten... OMIM:618870
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Seckel Syndrome
Sparse scalp hair, Short stature, Cachexia, Intrauterine growth retardation ORPHA:808
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Iron... OMIM:300855
Noonan Syndrome 5
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, ... OMIM:611553
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pub... ORPHA:2232
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Histiocytosis, Decreased response to growth hormone stimulation test, Splenomegaly,... OMIM:602782
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... ORPHA:209905
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Cockayne Syndrome B
Mandibular prognathia, Anhidrosis, Dry hair, Abnormal pinna morphology, Abnormal auditory evoked ... OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Failure to thrive, Short stature, Aggressive behavior, Self-injurious behavior, Compu... OMIM:300986
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia OMIM:618186
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... ORPHA:167
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Micrognathia, Myopic astigmatism, Long eyelashes, Bilateral conductive hearing impai... OMIM:617802
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short stature, Obesity, Sparse body hair, Decreased testicular size ORPHA:2234
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp... ORPHA:324964
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Leukocytosis, Weight loss, Pallor, Anemia ORPHA:517
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level,... ORPHA:53035
Silver-Russell Syndrome
Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth retardation, Cryptorchidi... ORPHA:813
Poems Syndrome
Thickened skin, Abnormality of skin physiology, Leukonychia, Lymphadenopathy, Thrombocytosis, Pol... ORPHA:2905
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Broad eyebrow, Torticollis, Ventricular septal defect, Bicuspid aortic valv... OMIM:619475
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of th... ORPHA:33276
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Microretrognathia, Thin upper lip vermilion, Eczema, Thickened helices, Oral-pharyngeal dysphagia... OMIM:300966
Ctcf-Related Neurodevelopmental Disorder
Highly arched eyebrow, Cryptorchidism, Synophrys, Hypertrichosis, Mitral regurgitation, Long eyel... ORPHA:363611
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Chronic mucocutaneous candidiasis, Prolonged QT interval, Ven... ORPHA:36913
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Cranioectodermal Dysplasia 2
Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Hypertension, Sparse hair, Polysple... OMIM:613610
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... ORPHA:54251
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Thrombocytopenia, Skin ulcer, He... ORPHA:2072
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Inflammation of the large intestine, Weight loss, Lymphadenopathy ORPHA:26790
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Aggressive behavior, Fine hair OMIM:615828
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Conical tooth, Bilateral cryptorchidism, Sparse eyebrow, Fine... OMIM:613451
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hyp... OMIM:603903
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Self-injurious behavior, Parakeratosis, Agitation OMIM:618339
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Postnatal growth retardation, Thrombocytopenia, Fine hair, Premature graying of ha... OMIM:612199
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Lambotte Syndrome
Macrotia, Atresia of the external auditory canal, Narrow mouth, Ocular anterior segment dysgenesi... OMIM:245552
Leopard Syndrome 2
Curly hair, Dry skin, Short stature OMIM:611554
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent skin infections, Paronychia, Dilated cardiomyopathy, Pyoderma, Bradycardia, N... ORPHA:79404
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... ORPHA:48104
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Abnormal dental enamel morphology, Anorexia, Thickened skin, ... ORPHA:79430
Cockayne Syndrome A
Mandibular prognathia, Anhidrosis, Dry hair, Cataract, Abnormal pinna morphology, Abnormal audito... OMIM:216400
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, Orofacial cle... ORPHA:96125
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Distal Deletion 19P
Low-set, posteriorly rotated ears, Alopecia, Hypoplasia of the maxilla, Sensorineural hearing imp... ORPHA:96129
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Goiter, Pitu... ORPHA:90674
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Pterygium, Absent eyebrow, Alo... OMIM:263650
Milroy Disease
Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Erysipelas ORPHA:79452
Gms Syndrome
Tricuspid regurgitation ORPHA:2090
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Leigh Syndrome
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Eczema... ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Restlessness, Hyperactivity, Smooth philtrum, Thin upper lip vermilion, Ag... OMIM:300534
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Alopecia, Hamartoma of t... OMIM:311200
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Severe short stature, Cachexia, Postnatal ... ORPHA:191
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars... OMIM:250250
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Small nail, Co... OMIM:608257
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellularity, Nail dystrophy, I... OMIM:615190
Verloove Vanhorick-Brubakk Syndrome
Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midline cleft lip, Cleft ... ORPHA:3429
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Noonan Syndrome 2
Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Low poste... OMIM:605275
Adrenoleukodystrophy
Alopecia, Attention deficit hyperactivity disorder, Hearing impairment OMIM:300100
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ... OMIM:614034
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas... ORPHA:562639
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cataract, Micrognathia, Cryptorchidism, Patent ductus... OMIM:620005
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:241530
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Micrognathia, Sparse eyebrow, Thick vermilion border, Small nail, Low-set ears,... OMIM:250410
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Micrognathia,... OMIM:259600
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss ORPHA:1164
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis OMIM:232200
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Anemia of inadequate production, Bone marrow hypocellularity, Atresia of ... OMIM:614900
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys,... ORPHA:3306
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Megaloblastic anemia, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h... ORPHA:79282
Adiposis Dolorosa
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Obesity, Arthritis, Dry skin ORPHA:36397
Moebius Syndrome
Corneal opacity, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Tooth agenesis, Br... ORPHA:570
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Acantholysis, T... ORPHA:36426
Sanjad-Sakati Syndrome
Hypoparathyroidism, Low-set, posteriorly rotated ears, Corneal opacity, Abnormal dental enamel mo... ORPHA:2323
Pseudo-Torch Syndrome 1
Microretrognathia, Cataract, Cleft lip, Patent ductus arteriosus, Splenomegaly, Thrombocytopenia,... OMIM:251290
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... OMIM:608670
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Anemia ORPHA:71273
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter OMIM:210740
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Gout, Inflammation of the large in... OMIM:232220
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Alopecia, Abnormal eyelash morphology, Abnormal cartilage morphology, ... ORPHA:2396
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... OMIM:615546
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Dry skin, Skin rash, Cachexia ORPHA:220295
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Blau Syndrome
Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Irido... ORPHA:90340
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Flexion contracture, ... ORPHA:666
Zygomycosis
Unusual skin infection, Fasciitis, Sinusitis, Pericarditis, Gastritis, Brain abscess, Pustule, My... ORPHA:73263
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Cleft palate, Fine hair, Agenesis of permanent teeth, Fused ... OMIM:614091
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Small earlobe, Absent eyebro... OMIM:264090
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Eczema, Highly arched eyebrow, Cryptorchidism, Congenital sensorineural hearing impairment, Recur... ORPHA:500159
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... ORPHA:521411
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Long uvula, Redundant skin, Micrognathia, Cryptorchidism, Tooth malposition, Narrow pal... ORPHA:536532
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Conductive he... OMIM:280000
Tuberculosis
Weight loss ORPHA:3389
Digeorge Syndrome
Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morpholo... OMIM:188400
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Premature graying of hair, Conjunctivitis, Acanthosis nigricans, Epididymitis,... OMIM:256040
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Short stature, Abnormal hair morphology, Cryptorchidism, Uncombable hair, Apla... ORPHA:3082
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Long eyelashes, Epidermal acanthosis OMIM:616069
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Alopecia, Abnormal circ... ORPHA:79474
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hypohidrosis, Downturned corners of mouth, Hyperkeratosis, Anisocoria, Short philtrum, Dysphagia,... OMIM:615510
Bardet-Biedl Syndrome 3
Tricuspid regurgitation OMIM:600151
Teebi-Shaltout Syndrome
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... OMIM:272950
Degcags Syndrome
Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficiency anemia, ... OMIM:619488
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Short stature, Megaloblastic anemia, Abnormality of hair texture, Generalized ichthyosis, Esophag... ORPHA:79351
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Corneal opacity, Decreased response to growth ... ORPHA:488632
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Corneal opacity, Micrognathia OMIM:166300
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Infectiou... ORPHA:83317
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Acral ulceration OMIM:614213
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Facial erythema, Scaling skin, ... OMIM:619503
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Megalocornea, Temporomandibular joint ankylosis, Corneal opacity ORPHA:2741
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Redundant neck skin, Posteriorly rotated ears, Gingival overgrowth, Narrow palate, A... OMIM:123790
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Aggressive behavior, Persistence o... OMIM:610253
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Koolen-De Vries Syndrome
Hyperactivity, Failure to thrive, Small for gestational age, Eczema, Impulsivity, Abnormality of ... OMIM:610443
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal pinna morphology, Protruding ear, Sparse body hair, Abnormal ... ORPHA:3068
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Hypertension, Tachycardia, Proximal muscle weakness in u... ORPHA:79276
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Palmoplantar... OMIM:610644
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral c... ORPHA:1772
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Short stature, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Rhizo-mes... ORPHA:163654
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... OMIM:232500
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Otofaciocervical Syndrome
Protruding ear, Abnormal antihelix morphology, High palate, Atresia of the external auditory cana... ORPHA:2792
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid art... ORPHA:85414
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Low anterior hairline, Hirsutism, Woo... OMIM:619244
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Molluscum contagiosum, Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Chronic lym... ORPHA:91139
Schimke Immunoosseous Dysplasia
Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Abnormal T cell morphology, Fine hair, ... OMIM:242900
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Oligodontia, Short eyelashes, Sparse bod... OMIM:608615
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi ORPHA:643
Localized Scleroderma
Fasciitis, Abnormal skin adnexa morphology, Abnormality of the dentition, Thickened skin, Erythem... ORPHA:90289
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, ... ORPHA:95455
Luo-Schoch-Yamamoto Syndrome
Umbilical hernia, Tricuspid regurgitation, Long eyelashes, Highly arched eyebrow OMIM:619460
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ... OMIM:100300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... ORPHA:340
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Bare Lymphocyte Syndrome, Type I
Ectopia lentis, Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis OMIM:604571
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... ORPHA:653
Chops Syndrome
Curly hair, Short stature, Thick hair, Cryptorchidism, Synophrys, Splenomegaly, Obesity, Coarse h... OMIM:616368
Mosaic Trisomy 9
Corneal opacity, Micrognathia, Asplenia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, ... ORPHA:99776
Mucolipidosis Type Iv
Microdontia, Palmoplantar keratoderma, Everted lower lip vermilion, Corneal opacity ORPHA:578
Hall-Riggs Syndrome
Slow-growing hair, Thick hair, Short stature, Coarse hair, Failure to thrive ORPHA:2107
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Farber Disease
Corneal opacity, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Abnormal conjunctiva mor... ORPHA:333
Intellectual Developmental Disorder, Autosomal Dominant 7
Smooth philtrum, Thin upper lip vermilion, Hyperactivity, Abnormal pinna morphology, Micrognathia... OMIM:614104
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Alopecia, Pancytopenia, Anorexia, Urinary bladder infla... ORPHA:99921
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Abnormal pinna morphology, Micrognathia, Sparse eyebrow, Diastema, Cari... OMIM:244450
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Hypoplastic toenails, Atrial septal d... ORPHA:904
Ritscher-Schinzel Syndrome 4
Curly hair, Impulsivity, Aggressive behavior, Cryptorchidism, Narrow palate, Wide mouth, High pal... OMIM:619435
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Lymphadenopathy ORPHA:56425
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi... ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair, Low-set ears OMIM:619910
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Progressive hearing i... ORPHA:514
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Pruritus, Splenomegaly, Sensorineural hearing impairment, Uveitis, Lymph... ORPHA:36412
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Curly eyelashes, Micrognathia, Cleft lip, Sensorineural hearing impairm... OMIM:301022
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Downturned corners of mouth, Self-injurious behavior, Low-set ears, Bruxism, Abnor... OMIM:618718
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Estrogen Resistance Syndrome
Osteopenia, Acne, Abnormality of the pubic hair, Delayed epiphyseal ossification, Osteoporosis, B... ORPHA:785
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-posit... ORPHA:133
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... ORPHA:79095
Sympathetic Ophthalmia
Alopecia, Cataract, Poliosis, Erythema, Anterior chamber cells, Posterior synechiae of the anteri... ORPHA:79098
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Cataract, Absent tragus, Cryptorchidism, S... OMIM:603457
Primary Biliary Cholangitis
Portal hypertension, Pruritus, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammat... ORPHA:186
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer, Lymphadenopathy ORPHA:424019
Immunodeficiency 22
Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Panniculiti... OMIM:615758
Schwartz-Jampel Syndrome
Decreased testicular size, Abnormal eyebrow morphology, Decreased body weight, Short stature, Cac... ORPHA:800
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Rhabdoid Tumor
Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Sy... ORPHA:2463
Fraser Syndrome 2
Low anterior hairline, Hypoplasia of the thymus, Atresia of the external auditory canal, Low-set ... OMIM:617666
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus OMIM:615812
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Hypoplastic toenails, Asplenia, Dextrotransposition of the great arteries, Atrial s... OMIM:306955
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Opitz-Kaveggia Syndrome
Dental crowding, Facial wrinkling, Micrognathia, Cleft upper lip, Cryptorchidism, Sensorineural h... OMIM:305450
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Lymphadenopathy, Increased proportion of CD4-positive T ce... OMIM:617099
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... OMIM:170390
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Fine hair, Tics, Inappropriate laughter, Intrauterine growth retardation, Obsessiv... ORPHA:363686
Chromomycosis
Keratitis, Pruritus, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Abnormal ora... ORPHA:182
Intellectual Developmental Disorder, Autosomal Dominant 68
Posteriorly rotated ears, Patent ductus arteriosus, Wide mouth, Astigmatism, High palate, Attenti... OMIM:619934
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious en... ORPHA:1304
3Mc Syndrome 3
Abnormal pinna morphology, Corneal opacity, Highly arched eyebrow, Cleft upper lip, Cryptorchidis... OMIM:248340
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Non-midline cleft lip, ... ORPHA:2549
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis,... ORPHA:276280
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Acute hepatic failure, Hepatomegaly, Elevated circulating a... OMIM:277900
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:134
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcornea, High palat... ORPHA:139471
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Abnormal ... ORPHA:287
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... ORPHA:444490
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Anemia OMIM:618839
Biotinidase Deficiency
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis ORPHA:79241
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis ORPHA:188
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Recurrent tons... ORPHA:171876
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... ORPHA:3353
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Dry skin, Failure to thrive OMIM:610965
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis OMIM:610475
5Q14.3 Microdeletion Syndrome
Open mouth, Abnormal repetitive mannerisms, Short philtrum, Thick eyebrow ORPHA:228384
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Posteriorly rotated ears, Abnormality of the dentition, Microtia, Nail dys... OMIM:614813
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Pneumonia... ORPHA:125
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Abnormality of hair texture, Splenome... ORPHA:667
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Short stature, Fine hair, ... OMIM:618891
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Pheochromocytoma, Elevated circulating calcitonin con... ORPHA:1332
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Cryptorchidism ORPHA:496790
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms, Thick eyebrow, Dermal translucency ORPHA:529965
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Thrombocytopenia OMIM:617397
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Abnormality of hair texture, Growth delay, Abnormality of the live... ORPHA:88618
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Encephalocraniocutaneous Lipomatosis
Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid OMIM:613001
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Cushing Disease
Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Acne, Pituitary corticotropic cell aden... ORPHA:96253
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis, Neonatal death OMIM:620014
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent eyelashes, Thick eyebrow, Tricuspid regurgitation, Highly arched eyebrow ORPHA:228396
Pilarowski-Bjornsson Syndrome
Postnatal growth retardation, Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow, Derm... OMIM:617682
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hepatomegaly, Gout, Hypothyroidism ORPHA:412
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... ORPHA:400
2Q37 Microdeletion Syndrome
Sparse scalp hair, Short stature, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eye... ORPHA:1001
Trichohepatoneurodevelopmental Syndrome
Curly hair, Hepatomegaly, Pruritus, Woolly hair, Synophrys, Splenomegaly, Coarse hair, Elevated c... OMIM:618268
Macrocephaly-Developmental Delay Syndrome
Mandibular prognathia, Microretrognathia, Recurrent pneumonia, Hepatosplenomegaly, Self-injurious... ORPHA:397612
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Na... OMIM:239800
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Posteriorly rotated ears, Dental crowding, Symblepharon, Corneal... OMIM:618175
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Abnormality of the dentition, Low anterior hairline, Low posterior hairlin... OMIM:615802
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Thrombocytopenia, Jaundice, Hepatitis, Uveiti... ORPHA:319251
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph... OMIM:266600
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde... ORPHA:556
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, Cutis laxa, F... OMIM:614800
Buerger Disease
Skin ulcer, Hyperhidrosis ORPHA:36258
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Multiple Sulfatase Deficiency
Ichthyosis, Splenomegaly, Corneal opacity, Hearing impairment OMIM:272200
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy, Panniculitis OMIM:619183
Weaver Syndrome
Deep-set nails, Mandibular prognathia, Thin nail, Cryptorchidism, Patent ductus arteriosus, Retro... OMIM:277590
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis OMIM:257200
Koolen-De Vries Syndrome
Hypopigmentation of hair, Short stature, Abnormality of hair texture, Cryptorchidism, Ichthyosis,... ORPHA:96169
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... ORPHA:2636
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis ORPHA:79279
Noonan Syndrome 7
Curly hair, Short stature, Large for gestational age, Low posterior hairline, Growth delay, Dysph... OMIM:613706
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Striae distensae, Pancre... ORPHA:99889
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micrognathia, Seborrheic dermatitis, Patent ductus arteriosus, Pierre-Robin sequence, Gingival ov... OMIM:300868
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Recurrent aspiration pneumonia, Oral-pharyn... ORPHA:98897
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... ORPHA:398063
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Blepharochalasis And Double Lip
Goiter OMIM:109900
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Bicuspid aortic valve, Ventricular septal defect, Portal hypertens... OMIM:194050
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, High palate, Short ph... OMIM:616579
Sarcoidosis
Hemolytic anemia, Alopecia, Cataract, Maculopapular exanthema, Eosinophilia, Erythema nodosum, Th... ORPHA:797
Monosomy 9P
Thin nail, Highly arched eyebrow, Micrognathia, Abnormality of the dentition, Cryptorchidism, Syn... ORPHA:261112
Aspartylglucosaminuria
Hepatomegaly, Acne, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutropenia, Macr... OMIM:208400
Autosomal Dominant Robinow Syndrome
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... ORPHA:3107
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger ORPHA:261211
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum, Skin ulcer ORPHA:493
Phelan-Mcdermid Syndrome
Aggressive behavior, Hypoplastic toenails, Toenail dysplasia, Micrognathia, Tongue thrusting, Pat... OMIM:606232
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Dent Disease 1
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Carpenter Syndrome 1
Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Sensorineural... OMIM:201000
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Walker-Warburg Syndrome
Cataract, Posteriorly rotated ears, Corneal opacity, Cryptorchidism, Submucous cleft hard palate,... ORPHA:899
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Cryptorchidism, Submucous cleft hard palate, Thick lower lip vermilion, He... OMIM:619103
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Micrognathia, Brushfield spots, Cryptorchidism, Cleft palate, Hypoplasia of the thymus,... OMIM:214110
Zellweger Syndrome
Cataract, Corneal opacity, Micrognathia, External ear malformation, Cryptorchidism, Sensorineural... ORPHA:912
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... ORPHA:93126
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix OMIM:245650
Cartilage-Hair Hypoplasia
Hepatomegaly, Heart block, Sparse eyebrow, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:175
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Leukocytosis, Mitral valve prolapse, Pulmonary arterial hy... OMIM:620233
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, T lymphocytopenia, Recurren... OMIM:607944
Pitt-Hopkins Syndrome
Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Deep philtrum, Cupped ear, Wide mouth, Se... OMIM:610954
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Micrognathia, Patent ductus arteriosus, Reticulocyto... OMIM:613309
Stuve-Wiedemann Syndrome 1
Pursed lips, Micrognathia, Carious teeth, Hyperhidrosis, Thin vermilion border, Smooth tongue, Lo... OMIM:601559
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Erythema, Leuk... ORPHA:32960
Acquired Purpura Fulminans
Skin rash, Pyoderma gangrenosum, Macular purpura, Hepatic failure, Thrombocytopenia ORPHA:49566
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Keratitis, Hypoplasia of the maxilla, Conjunctivitis, Atr... OMIM:123500
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Fetal Hydantoin Syndrome
Short stature, Cryptorchidism, Low posterior hairline, Coarse hair, Intrauterine growth retardati... ORPHA:1912
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, I... ORPHA:79408
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Abnormal fingernail morphology, Eczema, Abnormality of neu... ORPHA:235
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia ORPHA:206436
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Micrognathia, Cleft palate, Wide mouth, Microcornea, Lo... OMIM:243605
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... ORPHA:744
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Dermatomyositis
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Pruritus, Myocarditis, Eryt... ORPHA:221
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... ORPHA:2010
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Large for gestational age, Cryptorchidism, Thrombocytopenia OMIM:616638
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Enterocolitis, Hypoglycemic seizures, Gout, Hepato... ORPHA:79259
Waldenström Macroglobulinemia
Normocytic anemia, Anorexia, Hearing impairment, Abnormality of neutrophils, Splenomegaly, Lympha... ORPHA:33226
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Malar flattening, Aggressive behavior, Cleft lip, Synophrys, Myopic ast... OMIM:301066
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Synophrys, Bilateral wrist flexion contracture, Congenital contra... ORPHA:97297
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Aplastic zygomatic arch, Microtia, third degree, Redundant skin, Hearing impairme... OMIM:200110
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Abnormal dental morphology, Decreased response to growth hormone stimulation test, Test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Abnormal dental morphology, Decreased response to growth hormone stimulation test, Test... ORPHA:363958
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis, Purpura ORPHA:343
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Crypto... ORPHA:2554
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Prominent crus of he... OMIM:619695
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Delayed eruption of teeth, Thick eyebrow, Posteriorly rotated ears, Carious teet... OMIM:619229
Fraser Syndrome 1
Absent eyebrow, Abnormal pinna morphology, Dental crowding, Corneal opacity, Cleft upper lip, Abs... OMIM:219000
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Ogden Syndrome
Postnatal growth retardation, Cryptorchidism, Cutis laxa, Fine hair, Aplasia/Hypoplasia of the ey... ORPHA:276432
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy, Furrowed tongue, Macroglossia ORPHA:2483
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Agenesis of pineal gland, Abnormality of th... ORPHA:536471
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis ORPHA:26791
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cleft palate, Cutis laxa, Sparse hair, Long upper lip, Dermal translucency OMIM:615349
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis,... ORPHA:85408
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:309801
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Leu... OMIM:603553
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Median cleft lip... ORPHA:2213
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hepatosplenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Ab... ORPHA:85450
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Neonatal death OMIM:618810
Hawkinsinuria
Sparse hair, Restlessness OMIM:140350
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... ORPHA:521219
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Short stature, Splenomegaly, Osteoarthritis, Thrombocy... ORPHA:355
Trisomy 18
Short stature, Cachexia, Cryptorchidism, Growth delay, Intrauterine growth retardation, Abnormal ... ORPHA:3380
Cornelia De Lange Syndrome
Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Microcornea, Widely ... ORPHA:199
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... ORPHA:2673
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Highly arched eyebrow, Aggressive behavior, Downturned corners of mouth... OMIM:619121
Infantile Systemic Hyalinosis
Abnormal dental morphology, Thickened skin, Gingival overgrowth, Skin ulcer, Polycystic ovaries, ... ORPHA:2176
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Corneal opacity OMIM:618961
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Hypoplastic ilia, Wide anterior fontanel, Abnormal... ORPHA:2347
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Raynaud phenomenon, Cryptorchidism, Patchy alopecia, Arrhythmia ORPHA:2874
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis ORPHA:94090
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, ... ORPHA:79500
Diamond-Blackfan Anemia 7
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Increased mean corpuscular volume, Atr... OMIM:612562
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cleft soft palate, Micrognathia, Cryptorchidism, Conductive hearing impai... OMIM:154500
Fryns Syndrome
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Median cleft lip, Corneal opacity,... ORPHA:2059
Complete Androgen Insensitivity Syndrome
Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchid... ORPHA:99429
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... ORPHA:466650
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Cataract, Sensorineural hearing impairment, Acral ulceration, ... OMIM:162400
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Micrognathia, Short philtrum, High palate, Chronic otitis media, Abnormal... ORPHA:96121
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Short stature, Cryptorchidism OMIM:616559
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Decreased... OMIM:612301
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Thick lower lip vermilion, Macroglossia, Opacification of the corneal st... ORPHA:583
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Micrognathia, Bilateral cryptorchidism, Deep philtrum, ... OMIM:150230
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Uveitis, Developmental cataract, Self-injurious behavior, Attention def... OMIM:617044
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis ORPHA:247585
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Synophrys, Obesity, Fine hair, Long eyelashes OMIM:620250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Aplasia of the thymus, Pneumonia, Skin rash, Sev... OMIM:102700
Mucopolysaccharidosis Type 2
Otosclerosis, Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Conductive hearin... ORPHA:580
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Nail pits, Onycholysis, Malar ... ORPHA:85436
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Leukopenia, Delayed puberty, Slender build, Anemi... ORPHA:1328
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Atopic dermatitis, Weight loss, Dysphagia, Anemia ORPHA:2070
Huntington Disease-Like 2
Weight loss ORPHA:98934
Ataxia-Telangiectasia
Abnormal hair morphology, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thym... OMIM:208900
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura... ORPHA:293603
Woodhouse-Sakati Syndrome
Alopecia, Sensorineural hearing impairment, Protruding ear, Fine hair, Sparse hair, Anodontia, De... OMIM:241080
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa... OMIM:180900
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Abnormal heart valve morphology, Camptodactyly of finger, Cryptorchi... ORPHA:1606
Familial Calcium Pyrophosphate Deposition
Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage ORPHA:1416
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Redundant neck skin, Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure t... ORPHA:1842
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden... ORPHA:1572
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Lacunar halos around chondrocytes, Flat acetabular roof, Short greater... OMIM:256050
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Cryptorchidism, High palate, Atresia of the external auditory canal, Narrow mouth, ... OMIM:602471
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Thrombocytopenia, Sensorineural hearing impairment, Self-injurious behavio... ORPHA:457351
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Trismus, Sensorineural hearing ... OMIM:609166
Leprechaunism
Enlarged ovaries, Thickened skin, Hyperinsulinemia, Acanthosis nigricans, Central hypothyroidism,... ORPHA:508
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Bronchiectasis, Lymphadenopathy ORPHA:411703
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Chronic noninfectious lymphadenopathy, Tinnitus, Unilateral con... ORPHA:100084
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Wide mouth, Hyperkeratosis, Short philtrum, Low-set ears ORPHA:163966
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Trichiasis, Highly arched eyebrow, Neutropenia, Joint contracture, Lymph... OMIM:618460
Mosaic Trisomy 8
Abnormal pinna morphology, Corneal opacity, Micrognathia, Cryptorchidism, Cleft palate, Protrudin... ORPHA:96061
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea, Sparse eyebrow, Patent ductus arteriosus, Thin vermilion border, High pal... OMIM:619869
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Acute Disseminated Encephalomyelitis
Viral hepatitis, Aggressive behavior, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Redundant neck skin, Short stature, Highly arched eyebrow, Pica, Low posterior hairli... OMIM:617360
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Low-set ears, Long philtrum, Ocular anterior segment dysgenesis, Macro... OMIM:615145
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, ... ORPHA:582
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Cryptorchidism, Sensorineural... ORPHA:261236
Mycetoma
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis, Abnormality ... ORPHA:2583
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Mandibulofacial Dysostosis, Guion-Almeida Type
Micrognathia, Deep philtrum, Cleft palate, Microtia, Atresia of the external auditory canal, Low-... OMIM:610536
Marshall-Smith Syndrome
Irregular dentition, Brittle hair, Bilateral cryptorchidism, Synophrys, Glossoptosis, Short philt... OMIM:602535
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... ORPHA:177907
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulointerstitial neph... OMIM:124000
Noonan Syndrome 4
Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Cryptorchidism, High anteri... OMIM:610733
Occipital Horn Syndrome
Thick hair, Jaundice, Hepatitis, Cholestasis, Coarse hair, Esophagitis, Dysphagia ORPHA:198
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Hashimoto thyroiditis, Cachexia ORPHA:109
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh... ORPHA:3455
Meier-Gorlin Syndrome 1
Hyperconvex nail, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Narrow mouth, Cleft pa... OMIM:224690
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Skin rash, Slender build, Attention deficit hyperactivity disorder, Recurrent hand... OMIM:617600
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles... ORPHA:1333
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Weight loss, Granulomatosis, Conjunctivi... OMIM:608710
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Fine hair, Anemia, Truncal obesity, Attention deficit hyperactivi... ORPHA:2637
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, High, narrow palate, Fine hair, Protruding ear, Tubuloi... OMIM:218330
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... OMIM:617718
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato... ORPHA:79128
Cowden Syndrome
Generalized hyperkeratosis, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormalit... ORPHA:201
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Cataract, Hypoplasia of the maxilla, Cryptorchid... OMIM:139210
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Lujo Hemorrhagic Fever
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Subconjunctival hemorrhage,... ORPHA:319213
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Infectious encepha... OMIM:267700
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma, Multinodular goiter OMIM:620189
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Unusual skin infection, Sinusitis, Abnormality of taste sensat... ORPHA:68
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hyperactivity, Curly hair, Large for gestational age ORPHA:457485
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Sensori... OMIM:601390
Phosphoribosylpyrophosphate Synthetase Superactivity
Cryptorchidism, Sensorineural hearing impairment, Gout, Wide mouth, High palate, Low-set ears, Sp... OMIM:300661
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis ORPHA:370348
Cooper-Jabs Syndrome
Conductive hearing impairment, Malar flattening, Atresia of the external auditory canal, Low-set,... ORPHA:1488
Kapur-Toriello Syndrome
Posteriorly rotated ears, Patent ductus arteriosus, Orofacial cleft, Atresia of the external audi... ORPHA:2328
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Coxoauricular Syndrome
Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Aggressive behavior, Micrognathia, Abnormality of the dentition, Synophrys, Erup... ORPHA:476126
Distal Deletion 12Q
Late onset atopic dermatitis, Unilateral cryptorchidism, Elbow flexion contracture, Fine hair, Co... ORPHA:96149
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Limited Cutaneous Systemic Sclerosis
Skin ulcer, Dysphagia ORPHA:220402
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Brittle hair, Macrodontia, Cataract, Hearing imp... OMIM:309500
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Anterior pituitary hypoplasia, Micrognathia, Abnormality of the dentition,... OMIM:151050
Coffin-Lowry Syndrome
Highly arched eyebrow, Hyperconvex fingernails, Mitral regurgitation, Coarse hair, Thick eyebrow OMIM:303600
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc... ORPHA:183
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Prostatitis, O... ORPHA:900
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Menkes Disease
Hypopigmentation of hair, Osteomyelitis, Thickened skin, Prolonged neonatal jaundice, Sparse hair... ORPHA:565
Wiedemann-Steiner Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Rhizomelia, ... ORPHA:319182
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... OMIM:108760
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... ORPHA:342
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Eosinophilia, Abscess, Pruritus, Erythema nodo... ORPHA:228123
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcornea, Short philtrum, Ev... OMIM:601499
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... ORPHA:79328
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Posteriorly rotated ears, Micrognathia, Cleft upper lip, Trismus, Patent ... OMIM:154400
Chikungunya
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Cervical lymphadenopathy, Crustin... ORPHA:324625
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Micrognathia, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the i... ORPHA:2479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Micrognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Buphthalm... OMIM:236670
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Cataract, Facial wrinkling, Narrow mouth, Acanthosis nigricans, Developmental ... OMIM:606721
Alveolar Echinococcosis
Liver abscess, Cholangitis, Eosinophilia, Portal hypertension, Pancreatic cysts, Hepatic cysts, A... ORPHA:284
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Anterior pituitary hypoplasia, Uplifted earlobe, Micrognathia, Synophrys, ... OMIM:619841
Kinsship Syndrome
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Synophrys, Thick lower lip vermili... OMIM:619297
Addison Disease
Hypoparathyroidism, Normocytic anemia, Failure to thrive, Primary testicular failure, Salt cravin... ORPHA:85138
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Supernumerary nipple, Aggressive behavior, Submucous cleft hard palate,... ORPHA:457279
Alkaptonuria
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... ORPHA:56
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Long... OMIM:616894
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Posteriorly rotated ears, Dental crowding, Sclerocornea, Micrognathi... OMIM:600920
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Menke-Hennekam Syndrome 1
Short ear, Micrognathia, Deep philtrum, Protruding ear, High palate, Short philtrum, Sparse hair,... OMIM:618332
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno... ORPHA:793
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Impulsivity, Aggressive behavior, Micrognathia, Cupped ear, Lens coloboma,... OMIM:618914
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Attention de... ORPHA:83463
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Anorexia, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious... ORPHA:761
Mycophenolate Mofetil Embryopathy
Micrognathia, Hypoplastic toenails, Orofacial cleft, Anotia, Microtia, Atresia of the external au... ORPHA:268249
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairment, Leukocoria, Hyp... OMIM:310600
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Micrognathia, Sparse eyebrow, Recurrent pneumonia, Widely spaced teeth, Dysphagia, Macrotia, Abno... ORPHA:496641
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Cle... ORPHA:107
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Anhidrosis, Episodic hyperhidrosis, Paronychia, Hypogeusia, Acral ulceration OMIM:201300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure... ORPHA:415
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... ORPHA:373
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair, Short stature ORPHA:1185
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Normosmic Congenital Hypogonadotropic Hypogonadism
Abnormality of the dentition, Cryptorchidism, Congenital sensorineural hearing impairment, Breast... ORPHA:432
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Skin ulcer, Chronic mucocutaneous candidiasis, Gingivitis, Periodont... OMIM:116920
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Cleft palate, High palate, L... ORPHA:251038
Riddle Syndrome
Erythema, Scaling skin ORPHA:420741
Isotretinoin-Like Syndrome
Micrognathia, Patent ductus arteriosus, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia... ORPHA:2306
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Antinuclear antibody positivity, Keratitis, Retroperitoneal fibrosis, Orc... ORPHA:449563
Cowden Syndrome 7
Trichilemmoma, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditis, Goiter OMIM:616858
22Q11.2 Duplication Syndrome
Micrognathia, Cleft palate, Anterior creases of earlobe, Attention deficit hyperactivity disorder... ORPHA:1727
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large int... OMIM:232240
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Hereditary Central Diabetes Insipidus
Growth delay, Polydipsia, Weight loss ORPHA:30925
Neutral Lipid Storage Myopathy
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur... ORPHA:98908
Smith-Lemli-Opitz Syndrome
Sclerocornea, Micrognathia, Advanced eruption of teeth, Iris coloboma, Low-set, posteriorly rotat... ORPHA:818
Branchiooculofacial Syndrome
Micrognathia, Premature graying of hair, Conductive hearing impairment, Sparse hair, Ectopic thym... OMIM:113620
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... OMIM:219700
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Corneal opacity ORPHA:213
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cryptorchidism, Sensorineural hear... OMIM:614230
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Short stature, Growth delay, Nail dystrophy ORPHA:93947
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Micrognathia, Developmental glaucoma, Downturned corners of mouth, Aniridia ORPHA:1064
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... OMIM:207900
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Abnormal cartilage matrix, Abnormal bone structure ORPHA:86822
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Roberts Syndrome
Cataract, Micrognathia, External ear malformation, Cryptorchidism, Cleft upper lip, Cleft palate,... ORPHA:3103
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Coarse hair, Nail dysplasia, Intrauterine growth retardation, Throm... OMIM:612394
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Syn... OMIM:186580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:99413
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Mosaic Monosomy X
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:99228
Monosomy X
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:99226
Turner Syndrome
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... ORPHA:881
Acrofacial Dysostosis, Catania Type
Short stature, Abnormal hair pattern, Cryptorchidism, Coarse hair, Intrauterine growth retardation ORPHA:1786
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Sparse scalp hair, Flexion contracture, Camptodactyly, Pulmonary arterial ... OMIM:620029
Focal Myositis
Myositis, Weight loss ORPHA:48918
Monosomy 22Q13.3
Hyperactivity, Recurrent skin infections, Dental crowding, Hypoplastic toenails, Hair-pulling, De... ORPHA:48652
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Posteriorly rotated ears, Abnormal pinna morphology, Corneal opacity,... OMIM:268300
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Megalocornea, Highly arched eyebr... ORPHA:280
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Congestive heart failure, Myopathy, ... ORPHA:14
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Dental crowding, Eczema, Pseudohypoparathyroidism, Thin vermilion border, Hi... OMIM:617157
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Osteomyelitis, Acral ulceration OMIM:613115
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopat... OMIM:130650
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Fine hair, Dry skin, Aplasia/... ORPHA:1812
Fryns Syndrome
Microretrognathia, Ectopic pancreatic tissue, Tented upper lip vermilion, Cleft upper lip, Crypto... OMIM:229850
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Costello Syndrome
Deep-set nails, Curly hair, Redundant neck skin, Posteriorly rotated ears, Thin nail, Concave nai... OMIM:218040
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Abnormal dental morphology, Corneal opacity, Splenomegaly, Sensorineural hearing im... ORPHA:217085
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Short stature, Fine hair ORPHA:3079
Neurofibromatosis Type 1
Abnormal hair quantity, Cataract, Corneal opacity, Cryptorchidism, Chronic myelogenous leukemia, ... ORPHA:636
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, Brittle hair, Oral-pharyngeal dysp... OMIM:619184
Branchiootic Syndrome
Lip pit, Micrognathia, Sensorineural hearing impairment, Cleft palate, Atresia of the external au... ORPHA:52429
Larsen Syndrome
Corneal opacity, Short nail, Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Conductiv... OMIM:150250
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Arthritis, Skin ulcer, Dysphagia ORPHA:220393
Wrinkly Skin Syndrome
Microretrognathia, Smooth philtrum, Delayed eruption of teeth, Short nail, Redundant skin, Cariou... OMIM:278250
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Stomatitis, Elevated circulating growth hormon... ORPHA:97280
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Slender build, Cachexia, Dysphagia OMIM:603041
Choreoacanthocytosis
Hepatomegaly, Peroneal muscle atrophy, Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme ... ORPHA:2388
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Polycystic ovaries ORPHA:1643
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Abnormal dental morphology, Corneal opacity, Splenomegaly, Sensorineural hearing im... ORPHA:217093
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, High palate, Short philtru... OMIM:619512
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Cardiomegaly, Raynaud phenomenon, Neonatal all... ORPHA:51
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Atopic dermatitis, Weight loss ORPHA:2902
Proboscis Lateralis
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Cataract, Abnormal location of th... ORPHA:141099
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chr... ORPHA:723
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Bulimia, M... OMIM:300912
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis OMIM:619321
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Abnormal epidermal morphology ORPHA:398189
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Long philtrum OMIM:615877
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Striae distensae, Hyp... ORPHA:1501
Acute Interstitial Pneumonia
Reduced hematocrit, Bronchiectasis, Lymphadenopathy ORPHA:79126
Catastrophic Antiphospholipid Syndrome
Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ... ORPHA:464343
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, H... ORPHA:261337
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mandibular prognathia, Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abn... ORPHA:449291
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Growth delay, Decreased p... ORPHA:90362
Mullerian Aplasia And Hyperandrogenism
Acne, Hirsutism OMIM:158330
Ullrich Congenital Muscular Dystrophy 1
Follicular hyperkeratosis, Hyperhidrosis OMIM:254090
Calciphylaxis
Skin ulcer, Abnormality of skin physiology, Secondary hyperparathyroidism ORPHA:280062
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, Cryptorchidism, M... OMIM:618143
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Posteriorly rotated ears, Cataract, Micrognathia, Protruding tongue, Cryptor... OMIM:214100
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Autoimmunity ORPHA:405
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Atresia of the external auditory canal, Hearing impairment OMIM:243180
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Synophrys, Thick eyebrow, Pulmonic stenosis ORPHA:529962
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Failure to thrive, Short stature, Impulsivity, Low anterior hairline, Stereotypical h... OMIM:619950
Lcat Deficiency
Hemolytic anemia, Corneal opacity ORPHA:650
Meckel Syndrome
Low-set, posteriorly rotated ears, Accessory spleen, Cataract, Pancreatic fibrosis, Aplasia/Hypop... ORPHA:564
Isaacs Syndrome
Weight loss ORPHA:84142
Cerebrofaciothoracic Dysplasia
Short stature, Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... OMIM:617022
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Yunis-Varon Syndrome
Redundant neck skin, Sclerocornea, Micrognathia, High, narrow palate, Broad secondary alveolar ri... ORPHA:3472
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... OMIM:608594
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Attention deficit hyperactivity disorder, Dysphagia ORPHA:216866
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Dispropor... OMIM:210710
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Inflammation of the large... OMIM:301074
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Micrognathia, High palate, Sho... ORPHA:96176
Johanson-Blizzard Syndrome
Hepatomegaly, Sparse scalp hair, Ventricular septal defect, Portal hypertension, Situs inversus t... OMIM:243800
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Gingival bleeding, Skin ulcer ORPHA:352723
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... ORPHA:160
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Hearing imp... OMIM:256540
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Oligodontia, Absent fingernail, Sparse hair, Iris coloboma, Cleft uppe... OMIM:305600
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Short stature, Cryptorchidism, Abnormality of the spleen, A... ORPHA:648
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Diabetes mellitus, Biliary atresia, Glycosuria, Hyperglycemia, Pancreatic hyp... OMIM:600001
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Salt craving, Sparse axillary hair, Anorexia, Weight loss, ... ORPHA:95409
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... ORPHA:1652
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short stature, Anorexia ORPHA:1969
Wrinkly Skin Syndrome
Delayed eruption of teeth, Carious teeth, Cryptorchidism, Excessive skin wrinkling on dorsum of h... ORPHA:2834
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Hypotonia, Ataxia, And Delayed Development Syndrome
Smooth philtrum, Thick upper lip vermilion, Thin upper lip vermilion, Posteriorly rotated ears, C... OMIM:617330
Marfan Syndrome
Arthralgia/arthritis, Cachexia, Attention deficit hyperactivity disorder, Slender build, Striae d... ORPHA:558
Primrose Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Downturned corners of mouth, Tics... OMIM:259050
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... ORPHA:64
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... ORPHA:649
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Acute colitis, Liver abscess, Lung abscess, Leukocytosis, Weight l... ORPHA:67
Immunodeficiency 47
Normocytic anemia, Hepatomegaly, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Leukope... OMIM:300972
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Dental crowding, Highly arched eyebrow, Micrognathia, Cryptor... OMIM:619005
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Antinucl... ORPHA:470
Secondary Short Bowel Syndrome
Enterocolitis, Cholestasis, Weight loss, Growth delay, Failure to thrive, Polyphagia ORPHA:95427
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Malt Lymphoma
Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy, Posterior uveitis, Anemia ORPHA:52417
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis ORPHA:79099
Cerebellofaciodental Syndrome
Short stature, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Fine hair OMIM:616202
Huntington Disease-Like 2
Weight loss OMIM:606438
Polycythemia Vera
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Portal vein thrombosis, Acute leukemia... ORPHA:729
Mosaic Trisomy 1
Microretrognathia, Abnormal pinna morphology, Hypoplastic thumbnail, Thick lower lip vermilion, O... ORPHA:1692
Al-Gazali Syndrome
Recurrent pneumonia, Corneal opacity, Sclerocornea, Micrognathia OMIM:609465
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, White hair, Fine hair, Lymphopenia, Anemia ORPHA:935
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Hyperactivity, Supernumerary nipple, Patent ductus arteriosus, ... OMIM:600268
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Highly arched eyebrow, Micrognathia, High, narrow palate, Low ... ORPHA:75857
Dyschondrosteosis-Nephritis Syndrome
Microdontia, Corneal opacity ORPHA:1765
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Absent frontal sinuses, Crypt... OMIM:301040
Muckle-Wells Syndrome
Skin rash, Splenomegaly, Renal amyloidosis, Ichthyosis, Delayed puberty, Anemia ORPHA:575
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Micrognathia, Narrow mou... OMIM:614756
Congenital Disorder Of Deglycosylation 1
Restlessness, Anhidrosis, Corneal opacity, Oral-pharyngeal dysphagia, Hyperhidrosis, Low-set ears... OMIM:615273
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect OMIM:263520
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, Insulin-resistant diabetes mell... OMIM:269700
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Decreased response to growth hormone stim... ORPHA:444077
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis ORPHA:544482
Lathosterolosis
Cataract, Bilobate gallbladder, Increased mean platelet volume, Micrognathia, Acanthocytosis, Sch... OMIM:607330
Ophthalmomandibulomelic Dysplasia
Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma OMIM:164900
Juvenile Polyposis Of Infancy
Anemia, Refractory anemia, Short stature, Cachexia ORPHA:79076
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Trisomy 20P
Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low posterior hairline,... ORPHA:261318
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Short stature, Cryptorchidism, Widow's peak, Low posterior h... OMIM:304110
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Splenomegaly, Lymphadenopathy, High palate, Bilateral sensor... OMIM:619418
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Vascular Ehlers-Danlos Syndrome
Redundant skin, High, narrow palate, Osteoarthritis, Abnormality of the gingiva, Abnormal pupil m... ORPHA:286
Moderate Hemophilia A
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage ORPHA:169805
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Highly arched eyebrow, Supernumerary nipple, Situs inversu... OMIM:614976
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Grayish enamel, Carious teeth, Recurrent pneumonia, Wide mouth, Widely spa... OMIM:253000
Genitopatellar Syndrome
Cryptorchidism, Short stature, Sparse scalp hair, Fine hair ORPHA:85201
Igg4-Related Aortitis
Increased inflammatory response, Hypereosinophilia, Weight loss ORPHA:449400
Arboleda-Tham Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Anteverted ears, Downturned corners of mouth, Co... OMIM:616268
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... OMIM:619472
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis ORPHA:94089
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Yunis-Varon Syndrome
Redundant neck skin, Sclerocornea, Micrognathia, Palmoplantar hyperkeratosis, Protruding ear, Sho... OMIM:216340
Ménétrier Disease
Hypochromic microcytic anemia, Giant hypertrophic gastritis, Anorexia, Weight loss ORPHA:2494
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Macrogloss... OMIM:230000
Stickler Syndrome
Short stature, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build ORPHA:828
Amoebic Keratitis
Anterior uveitis, Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Iridocyclitis, Mediastinal lym... OMIM:181000
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, H... OMIM:182250
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline, Head-banging OMIM:618569
Lathosterolosis
Cataract, Micrognathia, Gingival overgrowth, Abnormal platelet morphology, Anisopoikilocytosis, D... ORPHA:46059
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Legius Syndrome
Paroxysmal atrial tachycardia, Acute monocytic leukemia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Pfeiffer Syndrome Type 2
Cleft palate, High palate, Atresia of the external auditory canal, Low-set ears, Malar flattening ORPHA:93259
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Fraser Syndrome
Low-set, posteriorly rotated ears, Dental crowding, Abnormal hair pattern, Cleft upper lip, Exter... ORPHA:2052
Treacher-Collins Syndrome
Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Low anterior hairline, Abnormality of... ORPHA:861
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Pancreatitis, Acute colitis ORPHA:90038
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Renal amyloidosis OMIM:191900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Highly arch... OMIM:301044
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Renal amyloidosis OMIM:120100
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hypoplastic philtrum, Cryptorchidism, Patent ductus arteriosus, Nail dysplasia, Sparse hair, Abno... OMIM:616682
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Osteootohepatoenteric Syndrome
Pruritus, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fi... OMIM:619377
Glycerol Kinase Deficiency
Chronic pancreatitis, Hypoglycemia, Adrenal insufficiency OMIM:307030
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Niemann-Pick Disease, Type C2
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice... OMIM:607625
Hirschsprung Disease
Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, L... ORPHA:449432
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Tracheobronchopathia Osteochondroplastica
Esophagitis, Recurrent pneumonia, Pneumonia, Calcification of cartilage ORPHA:3348
14Q22Q23 Microdeletion Syndrome
Posteriorly rotated ears, Anterior pituitary hypoplasia, Micrognathia, Cryptorchidism, Cupped ear... ORPHA:264200
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Familial Thrombocytosis
Acute myeloid leukemia, Pruritus, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thromb... ORPHA:71493
Galloway-Mowat Syndrome 1
Cataract, Micrognathia, Wide mouth, Hypoplasia of the iris, High palate, Low-set ears, Small nail... OMIM:251300
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Cataract, Developmental glaucoma, Sensorineural hearing impairment, Penetrating f... ORPHA:99956
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Abnormal T cell morphology OMIM:215250
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Micrognathia, Cryptorchidism, ... OMIM:309590
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Synophrys, Protruding ear, Low-set ears, Dysphagia, Abnormal repetit... ORPHA:447997
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Wolf-Hirschhorn Syndrome
Micrognathia, Orofacial cleft, Hyperconvex fingernails, Downturned corners of mouth, Short philtr... OMIM:194190
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Intellectual Developmental Disorder, Autosomal Dominant 38
Tented upper lip vermilion, Aggressive behavior, Hair-pulling, Downturned corners of mouth, Self-... OMIM:616393
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Cryptorchidism, Patent ductus arteriosus, Iris coloboma, Hearing impairment ORPHA:77298
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Low anterior hairline, Protruding ear, High palate, Abnormal repetitive ... OMIM:619325
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... ORPHA:97261
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Anisocoria, High palate, Low-set ear... OMIM:618653
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Flexion contracture, Intracranial hemorrhage, Camptodactyly,... ORPHA:86309
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Mild postnatal growth retardation, Splenom... ORPHA:90324
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Non-Functioning Paraganglioma
Pallor, Weight loss ORPHA:94080
Visceral Myopathy 1
Pancreatitis OMIM:155310
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcification of the... OMIM:271665
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... ORPHA:97282
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, T... ORPHA:79078
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Short stature, Elevated circulating luteinizing hormone level, Sparse ... ORPHA:90796
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:99880
Pallister-Hall Syndrome
Gonadotropin deficiency, Paroxysmal bursts of laughter, Bifid uvula, Low-set, posteriorly rotated... ORPHA:672
Kyphoscoliotic Ehlers-Danlos Syndrome
Micrognathia, Synophrys, Sensorineural hearing impairment, Microcornea, High palate, Low-set ears... ORPHA:536545
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Failure to thrive in infancy, Short stature, Oral-pharyng... OMIM:219800
Familial Multinodular Goiter
Hyperthyroidism, Pilomatrixoma, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicu... ORPHA:276399
Lateral Meningocele Syndrome
Cryptorchidism, Coarse hair, Short stature OMIM:130720
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Compulsive behaviors, Otitis media, Conductive hearing impairment, Abnormal repe... ORPHA:353281
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:143
Melnick-Needles Syndrome
Coarse hair, Stillbirth, Recurrent otitis media, Frontal hirsutism, Failure to thrive OMIM:309350
Yellow Fever
Shock, Neutrophilia, Skin rash, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia,... ORPHA:99829
Kanzaki Disease
Telangiectasia of the oral mucosa, Sensorineural hearing impairment, Thick lower lip vermilion, L... OMIM:609242
Congenital Tufting Enteropathy
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive ORPHA:92050
Neuropathy, Hereditary Sensory And Autonomic, Type V
Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration OMIM:608654
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ano... ORPHA:49041
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity, Hearing impairment ORPHA:239
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cataract, Exaggerated cupid's bow, C... ORPHA:709
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Otitis media, Conductive hearin... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Otitis media, Conductive hearin... ORPHA:353277
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Macroglossia, Umbilical he... ORPHA:96191
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair ORPHA:1974
8P23.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Attention deficit hyperactivit... ORPHA:251071
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis ORPHA:79444
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... ORPHA:97283
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Bilateral cryptorchidism, Keratitis, Conjunctivitis OMIM:278800
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Micrognathia, Repetitive compulsive behavior, Abnormality of the gin... ORPHA:513456
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... ORPHA:97278
Adenocarcinoma Of The Anal Canal
Skin ulcer, Lymphadenopathy ORPHA:424016
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Sparse hair, Bifid uvula, Alopecia, Sparse eyebrow, Cry... OMIM:601803
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:913
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis OMIM:225400
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... ORPHA:51608
Oromandibular Dystonia
Weight loss, Dysphagia, Bruxism ORPHA:93958
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Cirrhosis OMIM:215600
Adrenomyeloneuropathy
Adrenocorticotropic hormone excess, Frontal balding, Fine hair ORPHA:139399
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Calcinosis ORPHA:79443
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic... ORPHA:100078
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Nail-biting, Thin upper lip vermilion, Posteriorly rotated ears, Eczema, A... OMIM:620330
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Weight loss, Polydipsia, Anemia ORPHA:35687
Perry Syndrome
Weight loss ORPHA:178509
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Cerebrocostomandibular Syndrome
Micrognathia, Cleft palate, Glossoptosis, Atresia of the external auditory canal, Conductive hear... ORPHA:1393
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Acral ulceration OMIM:256840
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Ectopic thyroid, Hyperhidrosis ORPHA:3206
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hyperactivity, Unilateral cryptorchidism, Decreased response to gr... OMIM:613406
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Ungual fibroma, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Short stature, Aggressive behavior, Postnatal growth retardation, Cr... OMIM:135900
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Median cleft lip, Orofacial cleft, Atresia of the external auditory canal, Ir... ORPHA:3186
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Renal amyloidosis OMIM:134610
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:144
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Short stature, Frontal balding, Testicular adrenal rest tumor, Weight loss, Failure to thri... ORPHA:90794
Occipital Horn Syndrome
Growth delay, Coarse hair, Pili torti, Redundant skin OMIM:304150
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... OMIM:614748
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Pallor, Adrenal pheochromocytoma ORPHA:276621
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:440437
Chand Syndrome
Curly hair, Dry skin, Nail dysplasia ORPHA:1401
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Weight loss, Aspiration pneumonia, Dysphagia, Failure to thrive ORPHA:1018
Microphthalmia, Syndromic 3
Cataract, Anterior pituitary hypoplasia, Sclerocornea, Cryptorchidism, Patent ductus arteriosus, ... OMIM:206900
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Microphthalmia, Syndromic 6
Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Sclerocornea, Cryptorchidism, Microglos... OMIM:607932
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Fail... ORPHA:361
Malignant Atrophic Papulosis
Peritonitis, Arteritis, Weight loss ORPHA:679
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Widely spa... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Abnormal p... ORPHA:261552
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Growth delay, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine ... ORPHA:309031
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Short phil... ORPHA:261537
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Fatal Familial Insomnia
Weight loss, Dysphagia OMIM:600072
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... OMIM:175780
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Gingival overgrowth, Anterior cortical cataract OMIM:221800
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Opacification of the corneal stroma OMIM:313400
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Pallor, Adrenal pheochromocytoma ORPHA:29072
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss ORPHA:2126
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Intermediate ... ORPHA:91500
Liposarcoma
Weight loss ORPHA:69078
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Anorexia, Adrenocorticotropic hormone ex... ORPHA:100079
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Sensorineural hearing impairment, Paten... OMIM:164210
Split Cord Malformation
Tufted hairs, Penetrating foot ulcers, Hypertrichosis ORPHA:573278
Limb Body Wall Complex
Corneal opacity, Cleft lip, Cleft palate, Lens subluxation, Iris coloboma ORPHA:2369
Hereditary Late-Onset Parkinson Disease
Weight loss, Agitation, Impulsivity, Dysphagia ORPHA:411602
Neuroocular Syndrome
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Long eyelashes, Attention deficit ... OMIM:619539
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Short stature, Cryptorchidism, Weight loss, Anemia, L... ORPHA:84
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Failure to thrive in infancy, Proportionate short stature, Sparse... ORPHA:500150
Gerstmann-Straussler Disease
Weight loss, Aggressive behavior OMIM:137440
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Micrognathia, Buphthalmos, Everted lower lip vermilion, Pallor, Opacification of the co... OMIM:253280
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Short stature, Cyst of the ductus choledochus, Hypoplastic nipples, Delayed puberty, ... ORPHA:480880
Congenital Fiber-Type Disproportion Myopathy
Weight loss, Failure to thrive, Aspiration pneumonia, Dysphagia ORPHA:2020
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Weight loss ORPHA:747
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Testicular microlithiasis, Bronchiectasis, Weight loss ORPHA:60025
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Goodpasture Syndrome
Pallor, Glomerulonephritis, Anemia, Weight loss OMIM:233450
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Opacification of the corneal stroma OMIM:615287

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 Ctsl

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 Ctsl.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Conditional Gene Targeting Reveals Cell Type-Specific Roles of the Lysosomal Protease Cathepsin L in Mammary Tumor Progression. Cancers (July 2020) Ctsltm1a(EUCOMM) PMC7463523

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ctsltm83533(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ctsltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctslem1(IMPC)H Indel Mice
Ctslem2(IMPC)H Indel Mice

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