banner
Genes Phenotypes Help, News, Blog

Gene: Pepd MGI:97542

Log in to follow

Gene Summary

Name:
peptidase D
Synonyms:
dal,  Pep4,  Pep-4,  peptidase D

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal joint morphology Pepdtm1a(KOMP)Wtsi HOM Early adult 1.60×10-10
increased thigmotaxis Pepdtm1b(KOMP)Wtsi HOM Early adult 1.41×10-05
decreased circulating iron level Pepdtm1b(KOMP)Wtsi HOM Early adult 2.97×10-06
decreased B cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 4.22×10-05
abnormal behavior Pepdtm1b(KOMP)Wtsi HOM Early adult 1.41×10-05
decreased CD5-positive Ly6C-positive T cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 7.78×10-05
decreased B-2 B cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 4.67×10-05
increased leukocyte cell number Pepdtm1a(KOMP)Wtsi HOM Early adult 7.90×10-06
hyperactivity Pepdtm1b(KOMP)Wtsi HOM Early adult 7.38×10-06
increased CD4-positive, alpha-beta T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal bone structure Pepdtm1a(KOMP)Wtsi HOM Early adult 1.37×10-08
increased memory-marker NK cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased bone mineral content Pepdtm1b(KOMP)Wtsi HOM Early adult 1.73×10-06
small stomach Pepdtm1b(KOMP)Wtsi HOM Early adult 0.00
prolonged RR interval Pepdtm1b(KOMP)Wtsi HOM Early adult 7.45×10-07
decreased immature B cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased heart rate Pepdtm1b(KOMP)Wtsi HOM Early adult 2.91×10-06
enlarged lymph nodes Pepdtm1b(KOMP)Wtsi HOM Late adult 0.00
short tibia Pepdtm1b(KOMP)Wtsi HOM Early adult 1.09×10-07
decreased locomotor activity Pepdtm1b(KOMP)Wtsi HOM Early adult 1.27×10-07
increased effector memory T-helper cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased mean corpuscular hemoglobin Pepdtm1a(KOMP)Wtsi HOM Early adult 8.58×10-05
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating insulin level Pepdtm1a(KOMP)Wtsi HOM Early adult 8.80×10-08
increased circulating unsaturated transferrin level Pepdtm1b(KOMP)Wtsi HOM   Early adult 1.25×10-06
decreased follicular B cell number Pepdtm1b(KOMP)Wtsi HOM Late adult 2.01×10-05
prolonged RR interval Pepdtm1b(KOMP)Wtsi HOM Late adult 6.50×10-16
decreased circulating HDL cholesterol level Pepdtm1b(KOMP)Wtsi HOM Early adult 9.75×10-05
decreased bone mineral density Pepdtm1a(KOMP)Wtsi HOM Early adult 8.13×10-06
abnormal cornea morphology Pepdtm1a(KOMP)Wtsi HOM   Early adult 9.11×10-05
increased memory-marker CD4-negative NK T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal optic disk morphology Pepdtm1b(KOMP)Wtsi HOM Early adult 3.00×10-16
decreased Ly6C-positive NK T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal retina morphology Pepdtm1b(KOMP)Wtsi HOM   Early adult 2.76×10-05
decreased transitional stage T1 B cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased heart rate Pepdtm1b(KOMP)Wtsi HOM Late adult 4.49×10-14
abnormal retina morphology Pepdtm1a(KOMP)Wtsi HOM Early adult 4.58×10-05
increased effector memory CD8-positive, alpha-beta T cell number Pepdtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased vertical activity Pepdtm1b(KOMP)Wtsi HOM Early adult 2.11×10-06
increased circulating aspartate transaminase level Pepdtm1b(KOMP)Wtsi HOM Early adult 1.35×10-05
decreased bone mineral content Pepdtm1a(KOMP)Wtsi HOM Early adult 4.91×10-08
decreased mean corpuscular volume Pepdtm1b(KOMP)Wtsi HOM Early adult 4.53×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

22 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

22 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
Spleen Immunophenotyping

Images associated with FACS analysis

20 Images

View images
Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

42 Images

View images
Anti-nuclear antibody assay

Images

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
Eye Morphology

Images Ophthalmoscopy

7 Images

View images
Bone marrow immunophenotyping

Images associated with FACS analysis

10 Images

View images
Eye Morphology

Images Slit Lamp

4 Images

View images
DSS Histology

Images

4 Images

View images
Ear epidermis immunophenotyping

Images

12 Images

View images
Legacy Phenotype Associated Images
Pepdtm1a(KOMP)Wtsi
HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 68 images

Pepdtm1a(KOMP)Wtsi
abnormal placement of pupils, HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Pepdtm1a(KOMP)Wtsi
abnormal pupil morphology, abnormal placement of pupils, HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Pepdtm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI

View all 11 images

Human diseases caused by Pepd 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Prolidase Deficiency
Hirsutism, Recurrent cystitis, White forelock, Abnormal fingernail morphology, Abnormality of ret... ORPHA:742
Prolidase Deficiency
Hyperimidodipeptiduria, Facial hirsutism, Low posterior hairline OMIM:170100

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossification, Delayed femoral... ORPHA:168621
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Short stature, Sparse body hair, Hypogonadism, Intrauterine growth ret... OMIM:300869
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect, Generalized hirsutism, Cryptorchidism ORPHA:1918
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Retinal degeneration, Gastroesophageal reflux, Bradycardia OMIM:617173
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... OMIM:614841
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Hyperactivity, Attention deficit hyper... OMIM:617182
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Small nail, Hypergonadotropic hypogonadism... ORPHA:163971
Optic Atrophy 2
Optic atrophy, Absent Achilles reflex, Dysdiadochokinesis OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Loss of ambulation, Ataxia, Rod-cone dystrophy OMIM:609055
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Erectile dysfunction, Hyperpigmentation of the skin, Decreased libido, Cardiomyopat... ORPHA:465508
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Dysphagia, Bradycardia OMIM:620265
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Pes cavus, Ankle flexion contracture, Gait disturbance, Loss of ambulation, Knee f... OMIM:615043
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
46,Xx Sex Reversal 5
Increased serum testosterone level, Urogenital sinus anomaly, Aplasia of the left hemidiaphragm, ... OMIM:618901
Idiopathic Congenital Hypothyroidism
Bradycardia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnor... ORPHA:95717
Eng-Strom Syndrome
Short stature, Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defec... ORPHA:1937
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Mesoaxial Hexadactyly And Cardiac Malformation
External genital hypoplasia, Torticollis, Pulmonic stenosis, Short stature, Patent ductus arterio... OMIM:249670
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Increased level of D-threitol in plasma, Elevated circulating ribitol concentratio... OMIM:608611
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Primary g... ORPHA:261534
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidis... OMIM:618849
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Dysdiadochokinesis, Spastic ataxia OMIM:108650
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Li-Campeau Syndrome
Patent foramen ovale, Cryptorchidism, Short stature, Hypothyroidism, Thick eyebrow, Patent ductus... OMIM:619189
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Overlapping toe, Inability to walk OMIM:618572
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Nail dysplasia, Bifid scrotum, Low posterior hairline... ORPHA:1772
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cen... ORPHA:277
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Ataxia OMIM:136600
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Bradycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Pr... OMIM:212138
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Neon... OMIM:615524
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Sonoda Syndrome
Short stature, Ventricular septal defect OMIM:270460
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Bradycardia, Decreased circulating carnitine concentration, Cardiac arrest, Hypertr... OMIM:618235
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Cryptorchidism OMIM:616816
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Hyperglycinemia, Spastic ataxia, Gait disturbance OMIM:616859
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Flexion contracture of toe, Gait ataxia, Camptodactyly of finger, Inappropriate la... OMIM:619323
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, H... OMIM:249700
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Mmep Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:3434
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia, Septic arthritis, Abscess OMIM:612260
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis ORPHA:100024
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr... OMIM:253300
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the pul... ORPHA:1354
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Lethargy, Aggressive beh... OMIM:605899
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Irritability, Depression, Emotional lability, Compulsive behaviors, Impulsivity, G... ORPHA:216873
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Familial Thyroid Dyshormonogenesis
Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea... ORPHA:95716
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Ataxia, Arrhythmia, Ventricular preexcitation, Retinal vas... ORPHA:104
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Neutropenia, Decreased proportion of class-switched memory B cell... OMIM:619705
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal aortic morphology, Cryptorchidism, Short stature, Tetra... ORPHA:1166
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Impaired glucose tolerance, Insulinoma, Developmental cataract, Type II d... OMIM:147630
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Adams-Oliver Syndrome 4
Hypoplastic toenails, Patent ductus arteriosus, Toenail dysplasia, Umbilical hernia, Atrial septa... OMIM:615297
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Thrombocytopenia, Splenomegaly, Erlenmeyer flask deformity of the femurs, Hyp... OMIM:610539
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia, Abnormality of the calcaneus,... ORPHA:40366
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Arthralgia/arthriti... ORPHA:411593
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia OMIM:614702
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Anorexia, Retinal dystrophy, Megaloblastic anemia, Cardi... ORPHA:49827
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Inability to walk, Talipes equinovaru... ORPHA:356961
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Depression, Optic neuritis, Sensory axonal neuropathy, Cardiomyopath... ORPHA:254886
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Conjunctivitis, Arthritis, T lymphocytopenia OMIM:601457
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Robinow Syndrome
Nail dysplasia, Pulmonary valve atresia, High anterior hairline, Tricuspid atresia, External geni... ORPHA:97360
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalaninemia OMIM:619048
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Decreased serum testosterone concentration, Short stat... OMIM:305400
Microcephaly-Cardiomyopathy Syndrome
Short stature, Abnormality of retinal pigmentation, Intrauterine growth retardation, Dilated card... ORPHA:2515
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Hypothyro... OMIM:620430
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Spastic gait, Abnormal erythrocyte morphology, Depression, Calf muscle pseudohyper... ORPHA:96180
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Hyperprolinemia, Hypergl... OMIM:616299
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... OMIM:602450
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplasia of penis, Ventricular septal defect, Intrau... ORPHA:2772
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Ataxia, Retinal dystrophy OMIM:614706
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nemaline Myopathy 9
Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Spastic gait, Ankle flexion contracture, Flexion contracture of toe, Knee flexion ... ORPHA:320396
Immunodeficiency 48
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... OMIM:269840
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Abnormality of the kidney, Hypopigmentatio... ORPHA:895
Filippi Syndrome
Postnatal growth retardation, Cryptorchidism, Frontal hirsutism, Sparse hair, Intrauterine growth... OMIM:272440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Depression, Sensory axonal neuropathy, Cardiomyopathy, Gait disturbance, Dysphagia, ... OMIM:609286
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ... OMIM:615558
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Pes cavus, Difficulty walking, Talipes equinovarus, Peripheral axonal neuropathy, ... OMIM:617087
Tetanus
Bradycardia, Hypertension, Elevated circulating creatine kinase concentration, Abnormal autonomic... ORPHA:3299
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Motor stereotypy OMIM:617830
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Osteoporosis, Joint hypermobility, Hyperinsulinemic hypoglyce... OMIM:616033
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Retinal detachment, Hypocalcemia, Short ribs, S... OMIM:607143
Glycogen Storage Disease Iv
Bradycardia, Esophageal varix, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Abnormal ... OMIM:232500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Sarcosinemia
Optic atrophy, Peroneal muscle weakness, Emotional lability, Hypertrophic cardiomyopathy, Pulmoni... ORPHA:3129
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Hyperpig... ORPHA:2959
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Gonadal dysgenesis, male, Do... OMIM:231060
Hsd10 Mitochondrial Disease
Optic atrophy, Agitation, Hypertrophic cardiomyopathy, Restlessness, Choreoathetosis, Retinal deg... OMIM:300438
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia, Flexion contracture, Cataract OMIM:619851
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Immunodeficiency, Common Variable, 3
Conjunctivitis, Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switc... OMIM:613493
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly ORPHA:37748
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Bilateral coxa valga, Hypertrophic cardiomyopathy, Ataxia, Aggressive behavior OMIM:620270
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Ventricular escape rhythm, Arrhythmia,... ORPHA:542306
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... ORPHA:3044
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Osteopenia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevat... OMIM:613327
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis ORPHA:26137
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Tric... OMIM:620306
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Skeletal muscle atrophy, Decreased serum testosterone concentration ORPHA:101006
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Elevated circulating creatine kin... OMIM:618775
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro... OMIM:607594
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
King-Denborough Syndrome
Type 1 muscle fiber predominance, Elevated circulating creatine kinase concentration, Bilateral c... OMIM:619542
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Hepatomegaly, Decreased testicular size, Short stature, Splenomegaly, Hypogona... OMIM:201100
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Depression, Abnormal circulating thyroglobulin concentration, Abnormal epiphysis mor... ORPHA:90674
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior OMIM:239500
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Synophrys, Abnormal heart morpholog... ORPHA:401935
Catel-Manzke Syndrome
Highly arched eyebrow, Short stature, Camptodactyly of finger, Atrial septal defect, Ventricular ... ORPHA:1388
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Bradycardia, Truncal ataxia,... OMIM:614407
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, High palate, Ataxia, Aggressive behavior OMIM:300983
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Hyperpigmentation of the skin, Cardiomyopathy, Testicular atrophy, Imp... OMIM:235200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Feingold Syndrome Type 2
Short stature, Ventricular septal defect ORPHA:391646
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:614326
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Cryptorchidism, Short stature, Diabetes mellitus,... OMIM:249270
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Rabson-Mendenhall Syndrome
Premature graying of hair, Clitoral hypertrophy, Cardiomyopathy, Increased pineal volume, Intraut... ORPHA:769
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia OMIM:300484
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Ataxia, Spastic ataxia, Gait disturbance ORPHA:2572
Bardet-Biedl Syndrome 19
External genital hypoplasia, Partial atrioventricular canal defect, Hypogonadism, Patent ductus a... OMIM:615996
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Synophrys, Tetralogy of Fallot, Intrauterine gr... ORPHA:1913
Noonan Syndrome 9
Curly hair, Pulmonic stenosis, Short stature, Cryptorchidism, Sparse eyebrow, Coarctation of aort... OMIM:616559
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Severe temper tantrums, Bradykinesia, Spastic gait OMIM:619052
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Neonatal death, Cryptorchidism OMIM:613730
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Osteoporosis, Elevated transferrin saturation, Dilated cardiomyo... ORPHA:79230
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Precocious puberty, Congenital posterior occ... ORPHA:79414
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Hypoparathyroidism, Anemia of inadequate production, Le... ORPHA:231222
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Upper limb muscle weakness, Decreased serum testosterone concentrat... OMIM:609195
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Pes cavus, Ataxia, Dysphagia ORPHA:1171
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Noonan Syndrome 8
Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Le... OMIM:615355
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Polyarticular arthritis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Inability to walk, Cleft palate, Bifid uvula, Ankle clonus, Retinal vascular tortu... OMIM:618768
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypertensive crisis, Abnormal autonomic nervous system physiology, Dys... ORPHA:94093
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Congenital Myopathy 22A, Classic
Talipes, Bradycardia, High palate, Waddling gait, Congenital finger flexion contractures, Osteopo... OMIM:620351
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Camptodactyly, Cryptorchidism, Pulmonic stenosis, Growth delay, Low... OMIM:179613
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Irritability, Depression, Macular degeneration, Vacuolated lymphocytes, Ataxia, Re... OMIM:256730
Beta-Thalassemia
Reduced bone mineral density, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa... ORPHA:2756
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Abnormal coronary artery morphology, Abnorm... ORPHA:860
8P23.1 Duplication Syndrome
Highly arched eyebrow, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Adrenal... ORPHA:251076
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Abnormal autonomic nervous system ph... OMIM:601559
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Short stature, Patent ductus arteriosus, Atrial septal defect, Ventricular septal de... OMIM:618330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Elevated circulating creatine kinase concentration, Sinus bradycardia, Loss o... OMIM:616812
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Anorexia, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegaly, ... ORPHA:79312
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Wild Type Attr Amyloidosis
Congestive heart failure, Pedal edema, Bradycardia, Atrial fibrillation, Decreased/absent ankle r... ORPHA:330001
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... OMIM:616959
Striatonigral Degeneration, Infantile
Optic atrophy, Choreoathetosis, Dysphagia OMIM:271930
Hemochromatosis, Type 2A
Congestive heart failure, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly,... OMIM:602390
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect, Hypospadias ORPHA:1296
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... ORPHA:100973
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyse... ORPHA:90673
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... OMIM:613759
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... ORPHA:98870
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density OMIM:619489
Tyshchenko Syndrome
Thick hair, Cryptorchidism, Pulmonic stenosis, Short stature, Low anterior hairline, Intrauterine... OMIM:615102
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk, Abnormality of the ... ORPHA:431329
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Vacuolated lymphocyt... OMIM:204200
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Pes cavus, Decreased sensory nerve conduction velocity, Steppage gait, Hammertoe, ... OMIM:609260
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Low anterior hairline OMIM:608227
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Microcornea, Coronal craniosynostosis, Increased HbA2 hemoglobin,... OMIM:616943
Glutamine Deficiency, Congenital
Bradycardia, Camptodactyly, Micromelia, Hyperammonemia, Hypoglutaminemia OMIM:610015
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To... ORPHA:90647
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect, Hypothyroidism, Cryptorchidism OMIM:619908
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Melanocytic nevus, Patent ductus arteriosus, Ventr... ORPHA:261120
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Patent ductus arteriosus, Cardiomegaly, Atrial se... OMIM:618652
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, Perianal abscess, T lymphocytopenia OMIM:618108
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Peripheral axonal neuropathy, Ataxia, Retinal pigment epithelial mottling, Opt... OMIM:619389
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Clinodactyly, Hyperactivity OMIM:300928
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Tongue thrusting, Nonketotic hyperglycinemia, Brad... OMIM:220120
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Narrow greater sciatic notch, Rhizomelia, Coxa vara, Cone/cone-rod dystrophy, Sple... OMIM:602271
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Cryptorchidism, Precocious puberty, Growth delay, Synophrys, Tetralogy of Fal... ORPHA:3306
Sclerosteosis
Optic atrophy, Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hypero... ORPHA:3152
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly OMIM:614876
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Hartnup Disorder
Hyperactivity, Glossitis, Emotional lability, Episodic ataxia, Attention deficit hyperactivity di... OMIM:234500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal external genitalia ORPHA:3469
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Short stature, Pulmonary art... ORPHA:75389
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Muscular ventricular septal defect, Sparse scalp hair, Short stature, Hyd... OMIM:620062
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Retinal dystrophy, Osteoporosis, Elevated circulating phytanic acid concentration, A... OMIM:266510
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Tachycardia, Polyphagia, Hypertrophic cardiomyopathy, Increased C-peptide level, Decre... ORPHA:276556
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Methimazole Embryofetopathy
Hypospadias, Abnormal aortic morphology, Hypothyroidism, Coarctation of aorta, Abnormality of the... ORPHA:1923
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Thin eyebrow, Intrauterine growth retardation, Ventricular septal defect, Supernu... OMIM:617635
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Retinopathy, Glycosuria, Abnormal circulating insulin con... ORPHA:552
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Oral-pharyngeal dysphagia, Bradycardia, Depression, C... ORPHA:221098
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, High palate, Micrognathi... OMIM:201170
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Vasculitis, Abno... OMIM:308240
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Wolfram-Like Syndrome
Optic atrophy, Progressive cerebellar ataxia, Depression, Peripheral axonal neuropathy, Gastroint... ORPHA:411590
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:231095
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Low poste... OMIM:220210
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Micrognathia, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Orofaciodigital Syndrome Ix
High palate, Camptodactyly, Retinal coloboma, Hand polydactyly, Cleft palate, Toe syndactyly, Sho... OMIM:258865
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Ataxia, Retinopathy, Pigmentary retinopathy OMIM:610951
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Dysdiadochokinesis, Gait ... ORPHA:98890
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Limb ataxia, Gait ataxia, Ataxia, Retinal degeneration OMIM:614322
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Sensory axonal neuropathy, Ataxia, Dysphagia ORPHA:329314
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Usher Syndrome, Type Iiib
Truncal ataxia, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Tongue nodules, High palate, Foot polydactyly, Postaxial polyd... OMIM:258860
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Myelofibrosis, Bone marrow hypo... OMIM:301078
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Cinca Syndrome
Anemia, Arthritis, Leukocytosis, Patellar overgrowth, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Cryptorchidism, Tetralogy of Fal... ORPHA:1926
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Leukopenia, Thrombocyto... ORPHA:27
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Pes cavus, Onion bulb formation, Areflexia of lower limbs, Gait disturbance, Rod-c... OMIM:311070
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth r... OMIM:618142
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Retinal vasculitis OMIM:618969
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Ankle flexion contracture, High, narrow palate, Upper limb undergrowth, Elevated c... OMIM:608799
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mean corpuscular volume, Hyperten... ORPHA:2169
Methionine Malabsorption Syndrome
Blue irides, White hair, Aminoaciduria OMIM:250900
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Highly arched eyebrow, Patent foramen ovale, Cryptorchidism, Umbilical hernia, Diabe... ORPHA:500159
Prune1-Related Neurological Syndrome
Optic atrophy, Inability to walk, Gastroesophageal reflux, Elevated circulating creatine kinase c... ORPHA:544469
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Cinca Syndrome
Reduced bone mineral density, Anemia, Joint dislocation, Leukocytosis, Abnormal granulocyte morph... ORPHA:1451
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Limb ataxia, Emotional lability, Gait ataxia, Spastic ataxia, Decreased Achilles r... OMIM:613672
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Tachycardia, Polyphagia, Hypertrophic cardiomyopathy, Increased C-peptide level, Decre... ORPHA:276575
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hypoplastic toenails, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal de... OMIM:601927
Meacham Syndrome
Enlarged kidney, Bicuspid aortic valve, Septate vagina, Blind vagina, Transposition of the great ... OMIM:608978
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Waddling gait, Impulsivity, External tibial torsion, Coxa vara, Gait ataxia, Facia... OMIM:620445
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Abnormality of retinal pigmentation, Type II di... ORPHA:3085
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum insulin-like grow... OMIM:241080
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Inability to walk, Dysphagia, Optic disc pallor OMIM:617086
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity, Lethargy OMIM:274270
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, P... ORPHA:95513
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis OMIM:612840
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Necrotizing Enterocolitis
Neutropenia, Bradycardia, Hypotension, Leukocytosis, Hyponatremia, Thrombocytopenia, Lethargy, Shock ORPHA:391673
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Spinocerebellar Ataxia 7
Optic atrophy, Progressive cerebellar ataxia, Macular degeneration, Pigmentary retinopathy, Dysph... OMIM:164500
Severe Canavan Disease
Optic atrophy, Irritability, Inability to walk, Oral-pharyngeal dysphagia, Gastroesophageal reflu... ORPHA:314911
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion o... OMIM:615559
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Decreased nerve conduction velocity, Bradycardia, Prominent calcaneus, Loss of ambu... ORPHA:565624
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat... OMIM:614500
Serkal Syndrome
Congenital diaphragmatic hernia, Abnormality of the adrenal glands, Hypospadias, Abnormal penis m... ORPHA:139466
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Burkitt Lymphoma
Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helper T cells, Abnormal lymph ... ORPHA:543
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... ORPHA:95512
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Galactokinase Deficiency
Hyperinsulinemia, Nuclear cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Cataract,... ORPHA:79237
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Adrenal hypoplasia, Bicornuate uterus, Cryptorchi... OMIM:264480
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Optic atrophy, Broad finger, High palate, Exudative vitreoretinopathy, Restlessness, Dysphagia, S... OMIM:615075
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Short stature, Tetralogy of Fallot, Low anteri... OMIM:612946
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Accumulation of lipid droplets in small-bowel enterocytes, Decr... OMIM:246700
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... ORPHA:1106
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arteria... OMIM:617021
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Reduced bone mineral density, Retinal neovascularization... ORPHA:891
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Leber Optic Atrophy And Dystonia
Optic atrophy, Bradykinesia, Athetosis, Dysphagia, Leber optic atrophy OMIM:500001
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hyperconvex nail, Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:613870
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Elevated circulating acylcarnitine concentration, Cardiomyopathy, Lethargy ORPHA:26792
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Hyperuricemia, Hypertension, Bowing of the long bones, Osteo... ORPHA:2801
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Pes cavus, Bradykinesia, Wolff-Parkinson-White syndrome, Peripheral axonal neuropa... OMIM:601338
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Acute Monoblastic/Monocytic Leukemia
Ankle swelling, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroi... ORPHA:514
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Difficulty walking, Depression, Peripheral axonal neuropathy, Ataxia OMIM:619425
Intermediate Osteopetrosis
Anemia, Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurr... ORPHA:210110
Woods Syndrome
Hypoplastic fifth toenail, Broad nail, Frontal hirsutism, Ventricular septal defect, Supernumerar... OMIM:615236
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Hyperactivity OMIM:615924
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Short distal phalanx of finger, Brachydactyly, Osteoporosis ORPHA:2787
Steinert Myotonic Dystrophy
Facial diplegia, Impotence, Abnormality of the tongue muscle, Decreased response to growth hormon... ORPHA:273
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Conjunctivitis OMIM:612692
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Reticulocytosis, Gait ... ORPHA:14
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Aceruloplasminemia
Anemia, Aceruloplasminemia, Ataxia, Decreased circulating iron concentration, Retinal degeneratio... OMIM:604290
Hemochromatosis, Type 2B
Congestive heart failure, Anemia, Cardiomyopathy, Increased circulating iron concentration, Splen... OMIM:613313
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy, Dysphagia, Gait ataxia OMIM:620221
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Pes cavus, Clinodactyly of the 5th finger, High palate, Retinopathy, Ataxia, Dysph... OMIM:619422
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hyperhomocystinemia, Bradycardia, Megaloblastic anemia, Cardiac arrest, H... OMIM:277400
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Congenital diaphragmatic hernia, Transposition of the g... ORPHA:3097
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Infantile Refsum Disease
Optic atrophy, Cardiomyopathy, Facial palsy, Elevated circulating phytanic acid concentration, At... ORPHA:772
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Activated Pi3K-Delta Syndrome
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia ORPHA:98827
Seckel Syndrome 9
Congenital diaphragmatic hernia, Clitoral hypertrophy, Pulmonary artery hypoplasia, Short stature... OMIM:616777
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Decreased nerve conduction velocity, Inability to walk, Foot joint c... ORPHA:457205
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Aapoaiv Amyloidosis
Atrial flutter, Abnormality of the gastrointestinal tract, Left bundle branch block, Abnormal car... ORPHA:439232
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of the pulmonary artery, Short stature, Abnormality of retinal pigmenta... ORPHA:290
Pantothenate Kinase-Associated Neurodegeneration
Impulsivity, Acanthocytosis, Optic atrophy, Tip-toe gait, Depression, Compulsive behaviors, Toe e... ORPHA:157850
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Filippi Syndrome
Small nail, Aplastic/hypoplastic toenail, Cryptorchidism, Short stature, Growth delay, Severe sho... ORPHA:3255
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Marburg Hemorrhagic Fever
Bradycardia, Reticulocytosis, Hyperammonemia, Pericarditis, Leukopenia, Lymphopenia, Elevated cir... ORPHA:99826
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Tip-toe gait, Retinal dystrophy, Gait ataxia, Elevated circulating phytanic acid c... OMIM:614877
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopig... ORPHA:177910
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron deficiency anemia, Lymphadenopathy... OMIM:603909
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventricular septal defect, Short stature, Patent ductus arteriosus, Cryptorchidism OMIM:218350
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Congestive heart failure, Irritability, Abnormal fear-induced behavior, Broad-based gai... ORPHA:3077
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic... OMIM:619375
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Pes cavus, Bradykinesia, Limb ataxia, Steppage gait, Depression, Sensory axonal ne... OMIM:258450
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, St... ORPHA:2494
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Depression, Sensory axonal neuropathy, Dysdiadochok... ORPHA:254881
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Micropenis, Cryptorchidism OMIM:618504
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Urogenital sinus anomaly, Cryptorchidism, Decreased te... ORPHA:2970
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Shawl scrotum, Cryptorchidism, Ventricular septal defect, Hypoplasia of penis ORPHA:2256
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Gastroesophageal reflux, Hyperactivity, High palate, Micrognathia, Mot... OMIM:610883
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Bradycardia, Functional abnormalit... ORPHA:90051
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Bradycardia, A... ORPHA:226313
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Hyperlysinemia, Type I
Anemia, Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Hyperlysinemia, Hypoornithinemia OMIM:238700
Aceruloplasminemia
Limb ataxia, Congestive heart failure, Akinesia, Hypochromic microcytic anemia, Decreased circula... ORPHA:48818
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Stankiewicz-Isidor Syndrome
Hypospadias, Truncus arteriosus, Cryptorchidism, Patent ductus arteriosus, Shawl scrotum, Ventric... OMIM:617516
Tularemia
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Truncal ataxia, Gait disturbance, Achilles tendon contr... OMIM:210000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Highly arched eyebrow, Patent foramen ovale, Pulmonary arter... OMIM:618316
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Difficulty walking, Inability to walk, Gastroesophageal reflux... ORPHA:70
19Q13.11 Microdeletion Syndrome
Nail dysplasia, Hypospadias, Sparse or absent eyelashes, Bifid scrotum, Cryptorchidism, Growth de... ORPHA:217346
Noonan Syndrome 10
Hyperpigmentation of the skin, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Le... OMIM:616564
Familial Cold Autoinflammatory Syndrome 2
Arthritis, Leukocytosis, Splenomegaly OMIM:611762
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Irritability, Inability to walk, Athetosis, Gait disturbance, Hypertrophic cardiom... OMIM:618241
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Coarctation of aorta, Splenomegaly, Ve... OMIM:620210
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Ambiguous genitalia, Cr... ORPHA:452
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Camptodactyly, Cryptorchidism, Atrial septal defect, Ventricular septal defect OMIM:301039
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, An... ORPHA:100924
Phenylketonuria
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d... OMIM:261600
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insu... OMIM:609981
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical scleros... OMIM:122860
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Estrogen Resistance Syndrome
Osteopenia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating horm... ORPHA:785
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Obesity And Hypopigmentation
Red hair OMIM:620195
Costello Syndrome
Abnormal hair morphology, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Short s... ORPHA:3071
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Hypertension, Facial pals... ORPHA:97229
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Abnormal leukocyte morphology, Gait disturbance, Ataxia, Retrobulbar optic neuritis ORPHA:3151
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Pigmentary retinopathy, Loss of ambulation, Dysphagia, Motor ster... ORPHA:79264
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Arthrogryposis-like hand anomaly, Camptodactyly, Cryptorchidism, Short stat... ORPHA:369891
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Bradycardia OMIM:617397
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Limb muscle weakness... OMIM:313200
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Intellectual Developmental Disorder, Autosomal Recessive 79
Oligomenorrhea, Ventricular septal defect OMIM:620393
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Broad eyebrow, Coronary artery f... OMIM:619343
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Abnormality of the endocrine system, Absent eyelashes, Abnormal vena cava morphology,... ORPHA:166035
Cardioacrofacial Dysplasia 1
Nail dysplasia, Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Desbuquois Syndrome
Disproportionate short-limb short stature, Abnormal eyelash morphology, Camptodactyly of finger, ... ORPHA:1425
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... ORPHA:247768
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Highly arched eyebrow, Patent foramen ovale, Cryptorchidism, Umbilical hernia, Synophrys, Long ey... ORPHA:329224
Squalene Synthase Deficiency
Irritability, Slender long bone, Optic nerve hypoplasia, Increased circulating farnesol concentra... OMIM:618156
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Wolfram Syndrome 1
Diabetes insipidus, Cardiomyopathy, Growth delay, Hypothyroidism, Stroke-like episode, Diabetes m... OMIM:222300
Albers-Schönberg Osteopetrosis
Optic atrophy, Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morpholog... ORPHA:53
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Muckle-Wells Syndrome
Polyarticular arthritis, Conjunctival hyperemia, Leukocytosis, Conjunctivitis OMIM:191900
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Estrogen Resistance
Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired ... OMIM:615363
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Truncus arteriosus, Cryptorchidism, Long eyelashes, Camptodacty... ORPHA:2008
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Synophrys, Cryptorchidism, Atrial septal defect, Ventricular septal defect OMIM:618067
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Hypertrophic cardiomyopa... ORPHA:361
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Anemia, Hyperammonemia, Thrombocytopenia, Choreoathetosis, Lethargy, Neutropenia ORPHA:289916
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Hyperinsu... ORPHA:791
Abnormal Hair, Joint Laxity, And Developmental Delay
Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Impulsivity, Tricuspid r... OMIM:261990
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Bicornuate uterus, Abnormality of the uterus, Umbilical hernia, ... ORPHA:2143
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauter... ORPHA:3384
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Ventricular septal defect, Tetralogy of Fa... OMIM:618624
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Growth delay, Displacement of the u... ORPHA:1727
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Osteolysis, Pancytopenia, Leukocytosis, Osteopo... ORPHA:98850
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Aortic root aneurysm, Bicornuate uterus, Short stature, Shawl scrotum, Atr... OMIM:145420
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypoplastic toenails, Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyo... OMIM:612938
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Leukocytosis, Conjunctivitis OMIM:120100
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilat... OMIM:306955
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Myopathy With Extrapyramidal Signs
Optic atrophy, Hypervalinemia, Difficulty walking, Hyperactivity, Peripheral axonal neuropathy, C... OMIM:615673
Kapur-Toriello Syndrome
Joint contracture of the hand, Ventricular septal defect, Low posterior hairline, Camptodactyly o... OMIM:244300
Meningioma
Upper limb muscle weakness, Impotence, Decreased circulating cortisol level, Abnormal hypothalamu... ORPHA:2495
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Trisomy X
Premature ovarian insufficiency, Secondary amenorrhea, Precocious puberty, Atrial septal defect, ... ORPHA:3375
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Bifid uvula, Short 5th f... OMIM:268305
Leber Congenital Amaurosis 2
Eye poking, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent fovea... OMIM:204100
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Patent ductus arteriosus, Highly arched eyebrow, Synophrys, Umbilical hernia, Bicusp... OMIM:617751
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Optic atrophy, Increased serum pyruvate, High palate, Hyperalaninemia, Ataxia, Unsteady gait OMIM:245349
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Proportionate short stature, Patent ductus arteriosus, Atrial septal defect... OMIM:617044
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Highly arched eyebrow, Cryptorchidism, Short stature, Long eyelashes, Flexion contracture, Intrau... OMIM:617452
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Irritability, Loss of ability to walk in early childhood, Nonketotic hyperglycinem... ORPHA:401866
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Genu valgum, Decrea... ORPHA:231226
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption OMIM:221400
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytosis,... OMIM:209950
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Patent foramen ovale, Hirsutism, Cryptorchidism, Frontal hirsutism, Synoph... OMIM:618950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Majeed Syndrome
Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovitis, Splenomeg... ORPHA:77297
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Difficulty walking, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlar... OMIM:600081
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Loss of ambulation, Dysphagia, Restle... ORPHA:391428
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect OMIM:616898
Narp Syndrome
Irritability, Retinal pigment epithelial mottling, Ataxia, Progressive gait ataxia, Rod-cone dyst... ORPHA:644
Abetalipoproteinemia
Abetalipoproteinemia, Retinopathy, Ataxia, Retinal degeneration, Fat malabsorption, Acanthocytosi... OMIM:200100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Abnormal aortic morphology, Truncus arteriosus, Ventricular sept... ORPHA:2516
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Hemochromatosis, Type 4
Anemia, Cardiomyopathy, Arrhythmia, Elevated transferrin saturation, Increased circulating ferrit... OMIM:606069
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Ventricular septal defect, Hypoplastic toenails ORPHA:94066
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Abnormal heart morphology, Hypopigmentation of hair, Alopecia ORPHA:1067
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti... ORPHA:90044
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Hemochromatosis, Type 3
Anemia, Cardiomyopathy, Increased circulating iron concentration, Lymphopenia, Elevated transferr... OMIM:604250
Bone Marrow Failure Syndrome 3
Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leukemia, Retinal dystrophy,... OMIM:617052
Transaldolase Deficiency
Clitoral hypertrophy, Hepatomegaly, Patent foramen ovale, Synophrys, Coarctation of aorta, Hepato... OMIM:606003
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Leopard Syndrome 1
Delayed puberty, Multiple lentigines, Hypospadias, Spina bifida occulta, Hypoplasia of the ovary,... OMIM:151100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Juv... ORPHA:158061
Marinesco-Sjögren Syndrome
Optic atrophy, Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, Ataxia, Br... ORPHA:559
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Skeletal muscle atrophy, Decreased fertility, Te... ORPHA:481
Spastic Paraplegia Type 7
Optic atrophy, Pes cavus, Spastic gait, Dysphagia, Attention deficit hyperactivity disorder, Opti... ORPHA:99013
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglo... OMIM:612561
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Camptodactyly, Short stature, Synophrys, Sparse eye... ORPHA:3063
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Ventricular septal defect, Rhizomelia ORPHA:93267
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal nerve conduction velocity, Retinal detachment, Hyperactivity, Head... OMIM:182290
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Ogden Syndrome
Postnatal growth retardation, Torticollis, Cryptorchidism, Pulmonary artery stenosis, Aplasia/Hyp... ORPHA:276432
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Short stature, Atrial septal defect, ... OMIM:615279
Ritscher-Schinzel Syndrome 2
Postnatal growth retardation, Camptodactyly, Cryptorchidism, Low posterior hairline, Camptodactyl... OMIM:300963
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic atrophy, Athetosis, Hyperalaninemia, Self-biting, Elevated circulating hexacosanoic acid co... OMIM:614388
Spastic Paraplegia 2, X-Linked
Optic atrophy, Pes cavus, Spastic gait, Loss of ambulation, Dysmetria OMIM:312920
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Short stature, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosu... OMIM:617159
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Odynophagia, Hyp... ORPHA:319213
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy, Falls OMIM:613341
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-... ORPHA:85451
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Beta-Thalassemia Major
Anisopoikilocytosis, Irritability, Abnormality of iron homeostasis, Hypochromic microcytic anemia... ORPHA:231214
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Ataxia, Abnormality of the autonomic nervous system ORPHA:1186
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Oral-pharyngeal dysphagia, Prolonged QTc interval, Cardiac arrest, Elevated circul... OMIM:616878
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Joint hypermobility, Reduced natural killer cell count, Increased... OMIM:619752
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Cryptorchidism, Coarctation of aorta, Abnormal heart morphology, Persistent... OMIM:618494
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Split hand, Facial palsy, Ataxia, Dysphagia, Aggressive behavior OMIM:614707
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Ataxia, Mildly elevated creatine... ORPHA:401768
Intellectual Developmental Disorder, Autosomal Recessive 38
Narrow palate, Sandal gap, Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation... OMIM:615516
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Narrow palate, Gastroesophageal reflux, 2-3 toe syndactyly, Exaggerated median ton... ORPHA:313892
Brachydactyly, Type B1
Hypoplastic fingernail, Camptodactyly, Anonychia, Ventricular septal defect, Micropenis, Joint co... OMIM:113000
Scimitar Syndrome
Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena... ORPHA:185
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, Rhizomelia, Skeletal muscle hypertrophy, Cryptorchidism, Short stature, ... OMIM:617164
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count OMIM:613496
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ri... OMIM:620076
Periventricular Nodular Heterotopia 7
Cryptorchidism, Contracture of the proximal interphalangeal joint of the 3rd finger, Knee flexion... OMIM:617201
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Diffuse alveolar hem... ORPHA:99827
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Nor... OMIM:610198
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr... OMIM:602782
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial polysyndactyly of foot, Sh... OMIM:263520
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Abnormal autonomic nervous system physiology, Aggressive behavior ORPHA:329284
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
8Q12 Microduplication Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect ORPHA:228399
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Tafro Syndrome
Anemia, Myelofibrosis, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Elevated... ORPHA:457077
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha... OMIM:234050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate antidiuretic hormone secr... ORPHA:79124
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Patent ductus arteriosus, Atrial... ORPHA:2519
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Depression, Celiac disease, Patellar subluxation OMIM:248000
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, High anterior hairline, Highly arched eyebrow, Laterall... OMIM:600987
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated circulating parathyroid hormone level, Delayed epiphyseal ossification, Enlarge... ORPHA:289157
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Fast... ORPHA:263455
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Ventricular septal defect, Growth delay, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:600460
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Hypospadias, Broad eyebrow, Cryptorchidism, Abnormal heart morpholo... ORPHA:494344
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Roifman Syndrome
Postnatal growth retardation, Hepatomegaly, Noncompaction cardiomyopathy, Short stature, Hip cont... OMIM:616651
Alpha-1-Antitrypsin Deficiency
Gastric varix, Reduced circulating alpha-1-antitrypsin concentration, Hepatocellular carcinoma, S... OMIM:613490
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Irritability, Hypocalcemic seizures, Fibular bowing, Difficulty walking, Delayed epiphys... OMIM:264700
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Synophrys, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morph... ORPHA:284169
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Highly arched eyebrow, Cryptorchidism, Short stature, Long eyelashes, Limb joint contracture, Int... ORPHA:505237
Pontocerebellar Hypoplasia, Type 17
Limb hypertonia, Secundum atrial septal defect, Low anterior hairline, Patent ductus arteriosus, ... OMIM:619909
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Hyperalaninemia, Gait disturbance, Ataxia, Loss of ambulation, Elevated circulating acylc... OMIM:615838
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Ataxia, Optic disc pallor OMIM:618970
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Pes cavus, Spastic gait, Abnormal circulating cholesterol concentration, Limb dysm... OMIM:270800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Hypospadias, Small nail, Hirsutism, Pulmonary artery atresia, Elevated circulating ... OMIM:301056
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Hypospadias, Aortic root aneurysm... OMIM:617602
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Papilled... OMIM:620366
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Hyperactivity, Short metacarpal, Stereotypical hand wringing, Short fourth ... OMIM:600430
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Remnant... OMIM:620185
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Ventricular septal defect, Postnatal growth retardation ORPHA:3369
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Tongue nodules, Postaxial hand polydactyly, C... ORPHA:2751
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sin... OMIM:618280
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Cardiomegaly, Bicuspid aortic valve... ORPHA:363705
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Coronary artery fistula, Ventricular septal defect... OMIM:614294
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Short stature ORPHA:3449
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Short stature, Abnormal hair pattern, Umbilical hernia, Polycystic ovaries, V... ORPHA:1770
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Anemia, Calvarial osteosclerosis, Pancytopenia, Hyp... OMIM:259700
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Attention deficit hyperactivity... OMIM:619827
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Agitation, Inability to walk, Gait disturbance, Attenuation of retinal blood vessels... OMIM:617166
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Decrease... OMIM:300998
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Eales Disease
Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Pigmentary retinopathy, Gait disturbance, Dysphagia, Attention d... ORPHA:216866
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Broad eyebrow, Hypoplastic labia minora, Hirsutism, Absent ... ORPHA:495875
Isolated Atp Synthase Deficiency
Optic atrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Ataxia, Arrhythmia, ... ORPHA:254913
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of t... OMIM:608612
Pancreatic Lipase Deficiency
Hypocholesterolemia, Fat malabsorption, Steatorrhea OMIM:614338
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy, Emotional lability, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:254343
Atelis Syndrome 1
Irregular hyperpigmentation, Hypothyroidism, Cafe-au-lait spot, Atrial septal defect, Ventricular... OMIM:620184
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Sideroblastic anemia, S... OMIM:615234
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Epistaxis, Thrombocyto... OMIM:616216
19P13.12 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Precocious puberty, Arthrogryposis multiplex congenita, Synophrys, H... ORPHA:254346
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Ovotestis, Hypospadias, Pulmonary artery stenosis, Sex reversal,... OMIM:611812
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Eisenmenger Syndrome
Clubbing, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressur... ORPHA:97214
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Paternal Uniparental Disomy Of Chromosome 6
Postnatal growth retardation, Hepatomegaly, Hypoplastic fingernail, Neonatal insulin-dependent di... ORPHA:96191
Double Outlet Right Ventricle
Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymu... ORPHA:3426
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Reduced bone mineral density, Genu recurvatum, Retinopathy, Cata... ORPHA:2611
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Pes cavus, Limb ataxia, Peripheral axonal neuropathy, Abnormal autonomic nervous s... OMIM:610743
Hamamy Syndrome
Abnormal number of hair whorls, Hypoparathyroidism, Low posterior hairline, Sparse eyelashes, Spa... OMIM:611174
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Growth delay, Coarctation of aorta, Hypogonadism, Patent ductus a... OMIM:300514
Noonan Syndrome 4
High anterior hairline, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Short sta... OMIM:610733
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventricular... OMIM:126320
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Mccune-Albright Syndrome
Decreased fertility, Increased serum testosterone level, Irregular menstruation, Abnormal testis ... ORPHA:562
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Ventricular septal defect, Growth delay, Patent ductus arterios... ORPHA:77298
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Premature ovarian insufficiency, Endometriosis, Patent ductus arteriosus,... OMIM:613680
Trigonocephaly With Short Stature And Developmental Delay
Short stature, Ventricular septal defect OMIM:314320
Dihydropyrimidinase Deficiency
Hyperactivity, Elevated circulating creatine kinase concentration, Elevated circulating thymine c... OMIM:222748
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Abnormal op... ORPHA:3226
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Hepatomegaly, Abnormal fallopian tube morphology, Hypoproteinemia, ... ORPHA:1655
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Vitamin D-Dependent Rickets, Type 2A
Rickets, Irritability, Hypocalcemic seizures, Fibular bowing, Difficulty walking, Delayed epiphys... OMIM:277440
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Pes cavus, Spastic gait, Dysdiadochokinesis, Waddling gait, Gait ataxia, Dysphagia... OMIM:607259
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Pes cavus, Temporal optic disc pallor, Cardiomyopathy, Absent brainstem auditory r... ORPHA:1215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Difficulty walking, ... OMIM:241530
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Displacement of the urethral meatus, Patent ductus a... ORPHA:3378
Chylomicron Retention Disease
Steatorrhea, Retinopathy, Hypocholesterolemia, Fat malabsorption, Acanthocytosis ORPHA:71
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Ataxia... ORPHA:280234
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Meningococcal Meningitis
Anorexia, Irritability, Elevated circulating C-reactive protein concentration, Hypotension, Papil... ORPHA:33475
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Hepatosplenomegaly, Cerebral hemorrhage, Neutropenia OMIM:301081
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Pes cavus, Depression, Emotional lability, Elevated circulating creatine kinase co... OMIM:614298
Transketolase Deficiency
Hepatomegaly, Secondary amenorrhea, Patent foramen ovale, Proportionate short stature, Abnormal c... ORPHA:488618
Microcephaly-Capillary Malformation Syndrome
Small nail, Patent foramen ovale, Short stature, Right ventricular hypertrophy, Atrial septal def... OMIM:614261
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Periph... OMIM:613001
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Mydriasis, Anemia, Hypochromic microcytic ane... OMIM:259720
Skraban-Deardorff Syndrome
Sparse lateral eyebrow, Right aortic arch, Ventricular septal defect OMIM:617616
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Emotional lability, Gait disturbance, Unsteady gait, Lethargy OMIM:603896
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
3C Syndrome
Postnatal growth retardation, Atrioventricular canal defect, Abnormal tricuspid valve morphology,... ORPHA:7
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hirsutism, Premature thelarche, Nodular goiter, Coarctation of aorta, Type I diabetes mellitus, M... ORPHA:371428
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Cryptorchidism, Pulmonic stenosis, Aplasia/Hypoplas... OMIM:619123
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Ataxia ORPHA:85297
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Osteopenia, Calcinosis, Inability to walk, Hypokalemia, Gastroesophageal reflux, H... OMIM:617913
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Small nail, Short stature, Bicuspid aortic valve, Ventricular septa... OMIM:617450
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Truncus arteriosus, Cryptorchidism, Pulmonic stenos... OMIM:609029
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Cleft hard palate, Small epiphyses, Delayed epiphyse... ORPHA:166016
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia,... ORPHA:811
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Pes cavus, Difficulty walking, Clinodactyly of the 5th finger, Broad-based gait, B... OMIM:617807
Keutel Syndrome
Short stature, Pulmonary artery stenosis, Ventricular septal defect, Alopecia ORPHA:85202
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia, Acholic stools, Hypocholestero... OMIM:607765
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty, Growth delay, Intrauterine growth retardation, Ven... ORPHA:447980
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy,... OMIM:535000
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Low posterior hairline, Spina bifida ORPHA:2345
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal dysplas... OMIM:251270
Cerebrotendinous Xanthomatosis
Xanthelasma, Difficulty walking, Delayed somatosensory central conduction time, Angina pectoris, ... OMIM:213700
Diamond-Blackfan Anemia 5
Short stature, Ventricular septal defect, Hypospadias OMIM:612528
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Diastasis recti, Abnormal heart morphology, Umbilic... ORPHA:254534
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Retinal hemorrhage, Hand clenchi... OMIM:614653
Insulin-Like Growth Factor I, Resistance To
Increased circulating insulin-like growth factor 1 concentration, Highly arched eyebrow, Patent f... OMIM:270450
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Recombinant 8 Syndrome
Abnormal hair morphology, Hypoplastic male external genitalia, Low posterior hairline, Cryptorchi... ORPHA:96167
Joubert Syndrome 18
Intrauterine growth retardation, Occipital encephalocele, Ventricular septal defect, Camptodactyly OMIM:614815
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the pectoralis major muscle, Breast aplasia, Hypoplasia of penis, Hyp... ORPHA:3138
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect, Small nail OMIM:263630
Chops Syndrome
Thick hair, Patent foramen ovale, Anomalous pulmonary venous return, Cryptorchidism, Short statur... OMIM:616368
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Mandibuloacral Dysplasia
Hyperinsulinemia, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of t... ORPHA:2457
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Precocious puberty in females, Bone cyst, Insulin resistance, Diabetes mellitus ORPHA:528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concen... ORPHA:26793
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Intrauterine growth r... ORPHA:96181
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Cri-Du-Chat Syndrome
Optic atrophy, Difficulty walking, Short metatarsal, Gastroesophageal reflux, Hyperactivity, High... OMIM:123450
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, F... ORPHA:2221
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Anemia, Increased bone mineral density, Facial palsy, Reticulocytos... OMIM:611490
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Rhizomelia, Severe intrauterine growth ret... OMIM:614114
Ellis Van Creveld Syndrome
Epispadias, Situs inversus totalis, Neonatal short-limb short stature, Atrioventricular canal def... ORPHA:289
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia OMIM:610768
Trisomy 1Q
Congenital diaphragmatic hernia, Hypoplastic toenails, Ventricular septal defect, Camptodactyly o... ORPHA:261344
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Small nail, Pulmonary artery atr... ORPHA:1908
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Camptodactyly of finger, Coa... ORPHA:2876
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... OMIM:604367
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Pancytopenia, Diaphyseal... OMIM:259710
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn... ORPHA:477817
Noonan Syndrome 2
Abnormal coronary artery origin, Hypermelanotic macule, Cardiomyopathy, Low posterior hairline, P... OMIM:605275
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Gastroesophageal reflux, Gait disturbance, Gait ataxia, Ataxia, Dysphagia, Loss of... ORPHA:225154
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Hypoproteinemia, Pancreatic lymphangiectasis, Cryptorchid... OMIM:235255
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Hyperinsulinemia, Delayed cranial suture closure, Osteolytic defects of the distal ph... OMIM:248370
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Gastroesophageal reflux, Impulsivity, Ataxia, Unsteady gait, A... ORPHA:442835
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ... ORPHA:90033
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Low posterior hairline OMIM:214300
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Short stature, Growth delay, Patent ductus arteriosus, Atrial septal defect, Vent... ORPHA:457193
Camurati-Engelmann Disease
Abnormal femur morphology, Leukopenia, Splenomegaly, Ataxia, Craniofacial osteosclerosis, Coxa va... ORPHA:1328
Alg12-Cdg
Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Sandal g... ORPHA:79324
Psoriasis 14, Pustular
Polyarticular arthritis, Neutrophilia, Leukocytosis, Oligoarthritis OMIM:614204
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Labial hypoplasia, Hirsutism, Cryptorchidism, Precocious puberty, Ventricular septal defect, Micr... OMIM:620073
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Clubbing, Esophageal varix, Portal hypertension... OMIM:620367
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Osteopetrosis, Difficulty walking, Diaphyseal sclerosis, Hypocalcemia, Inappropria... OMIM:618476
Braddock-Carey Syndrome 1
Camptodactyly, Curly hair, Growth delay, Sparse hair, Ventricular septal defect, Aortic valve pro... OMIM:619980
Carney Complex, Type 1
Multiple lentigines, Thyroid carcinoma, Red hair, Pheochromocytoma, Cardiac myxoma, Hirsutism, Pr... OMIM:160980
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Lethal Congenital Contracture Syndrome 10
Torticollis, Hypoplasia of the thymus, Increased variability in muscle fiber diameter, Cardiomega... OMIM:617022
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Spondylo-Ocular Syndrome
Facial hypotonia, Low posterior hairline, Short stature, Abnormal eyebrow morphology, Iris hypopi... ORPHA:85194
Coffin-Siris Syndrome
Postnatal growth retardation, Hypospadias, Small nail, Hypoplastic fifth toenail, Hirsutism, Spar... ORPHA:1465
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aortic arch, Pulmo... OMIM:192430
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Cardiomyopathy, Pericarditis, Ataxia, Hypoalbuminemia, Hypocholesterolem... OMIM:212065
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Dysplastic pulmonary valve, A... OMIM:601808
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Decreased circulating prealbumin concentration, Ce... ORPHA:90363
Mosaic Trisomy 16
Large placenta, Maternal diabetes, Hypospadias, Single coronary artery origin, Profuse pigmented ... ORPHA:1708
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Micrognathia, Ataxia, Motor stereotypy, H... ORPHA:530983
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Pes cavus, Abnormal nerve conduction velocity, Gait disturbance, Ataxia ORPHA:99014
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Abnormal optic disc morphology, Optic... ORPHA:363417
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Athetosis, Cardiomyopathy, Thrombocytopenia, Ataxia, Severe temper tantrums, Rod-c... OMIM:617710
Alg8-Cdg
Optic atrophy, Abnormality of the gastrointestinal tract, Anemia, Camptodactyly, Retinopathy, Hyp... ORPHA:79325
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Hypospadias, Breast aplasia, Cryptorchidism, Short stature, Growth delay, T... OMIM:617063
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Dysdiadochokinesis, Optic di... ORPHA:363429
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, ... ORPHA:198
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Arthritis, Decreased pro... OMIM:301074
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Coarse hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Patent foramen ovale, Spa... OMIM:620519
Phace Association
Vascular dilatation, Aortic aneurysm, Congenital hypothyroidism, Coarctation of aorta, Arterial s... OMIM:606519
Emanuel Syndrome
Congenital diaphragmatic hernia, Multiple joint contractures, Truncus arteriosus, Infertility, Cr... ORPHA:96170
Warsaw Breakage Syndrome
Postnatal growth retardation, Hypermelanotic macule, Tetralogy of Fallot, Intrauterine growth ret... OMIM:613398
Primary Myelofibrosis
Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... ORPHA:824
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Low posterior hairline, Pulmonic stenosis, Sparse hair, Patent foramen ova... OMIM:617506
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Anemia, Hyperbilirubinemia, Hepatocellular carcinoma,... ORPHA:64743
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Increased mean corpuscular volume, Optic nerve hypoplasia, High pala... ORPHA:261250
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Spinocerebellar Ataxia Type 1
Optic atrophy, Bradykinesia, Progressive cerebellar ataxia, Abnormal nerve conduction velocity, G... ORPHA:98755
Congenital Disorder Of Glycosylation, Type Il
Splenomegaly, Hypoalbuminemia, Hypocholesterolemia, Hip dislocation, Villous atrophy OMIM:608776
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperam... ORPHA:480864
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Irritability, Hyperammonemia, Loss of ambulation, Dysphagia, Neutropenia OMIM:618253
Systemic Sclerosis
Nail bed telangiectasia, Pericarditis, Dysphagia, Intestinal bleeding, Abnormal phalangeal joint ... ORPHA:90291
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal d... OMIM:616897
Weiss-Kruszka Syndrome
Hypoplastic fingernail, Highly arched eyebrow, Dextrotransposition of the great arteries, Left ve... OMIM:618619
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Bile duct proliferation, Intrauterine growth retardation... OMIM:611134
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Anal Fistula
Leukocytosis ORPHA:228113
Down Syndrome
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Patent foramen ovale, E... OMIM:190685
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Bradycardia, Hyponatremia, Decreased circulating co... ORPHA:91355
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Alpha-Mannosidosis, Adult Form
Osteopenia, Aortic regurgitation, Pancytopenia, Depression, Hepatosplenomegaly, Ataxia, Recurrent... ORPHA:309288
Syndromic Diarrhea
Trichorrhexis nodosa, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Generalized hypopigme... ORPHA:84064
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Aortic aneurysm, Ventricular septal defect, Short stature,... OMIM:130720
Chromosome 5Q12 Deletion Syndrome
Postnatal growth retardation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defec... OMIM:615668
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly, Cryptorchidism, Short stature,... ORPHA:2473
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Pes cavus, Irritability, Hammertoe, Gastroesophageal reflux, Retinal detachment, H... OMIM:619833
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Cryptorchidism, Abnormal heart morphology, Low anterior hairline, Ventricu... ORPHA:404440
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Akinesia, Gastroesophageal reflux, Truncal ataxia, Hyperalaninemia, Optic neuropat... OMIM:618249
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Anemia ORPHA:230
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Inability to walk, Right bundle branch block, Tapered finger, Tricuspid regurgitat... OMIM:619576
Mosaic Trisomy 9
Hypoplastic female external genitalia, Dextrocardia, Abnormal fallopian tube morphology, Hypoplas... ORPHA:99776
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Splenomegaly, Hypoplastic toenails OMIM:616589
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Lead Poisoning
Abnormal T cell morphology, Delayed puberty, Cranial hyperostosis, Anemia, Imbalanced hemoglobin ... ORPHA:330015
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Peripheral axonal neuropathy, Emotional lability, Abnormal autonomi... ORPHA:35069
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Hypoplastic toenails, Ventric... OMIM:616901
Kapur-Toriello Syndrome
Hypoplasia of penis, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, Hy... ORPHA:2328
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pes cavus, Difficulty walking, Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Hig... ORPHA:502423
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Idiopathic Intracranial Hypertension
Depression, Papilledema, Lethargy, Abnormal emotion ORPHA:238624
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Bulimia OMIM:614651
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Anomalous pulmonary venous return, Pat... ORPHA:392
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Noncompaction cardiomyopathy, B lymphocytopenia, Reticulocytope... ORPHA:508542
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Cryptorchidism, Short stature, Neonatal death, Patent ductus arteriosus,... OMIM:620024
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Patent foramen ovale, Ventricular septal defect, Primary hyper... OMIM:615474
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Macroglossia,... OMIM:218700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Increased total iron binding capacity, Difficulty walking, Truncal ataxia, Dysdiado... ORPHA:309854
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Prolonged QT interval, Hypochromic microcytic anemia, Normochromic microcytic anem... ORPHA:66634
Carpenter Syndrome 1
Transposition of the great arteries, External genital hypoplasia, Spina bifida occulta, Camptodac... OMIM:201000
Spinocerebellar Ataxia, Autosomal Recessive 18
Truncal ataxia, Dysdiadochokinesis, Optic disc pallor, Gait ataxia, Ataxia, Dysmetria OMIM:616204
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper... OMIM:145600
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Pulmonic stenosis, Umbilical hernia, Intrauterine growth retarda... OMIM:600001
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Short stature,... OMIM:614921
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis, Hypothyroidism, Splenomegaly, ... ORPHA:39041
Diamond-Blackfan Anemia 7
Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Esophagiti... OMIM:612562
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... OMIM:613873
Alagille Syndrome
Delayed puberty, Hepatomegaly, Spina bifida occulta, Cryptorchidism, Intrauterine growth retardat... ORPHA:52
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Gait ataxia, Conjunctival telan... ORPHA:95433
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Hypospadias, Anencephaly, Encephalocele, Abnormal pericardium mo... ORPHA:1335
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Neutropenia, Hepatosplenomegaly, Splenomegaly, Enlarged platelet ... OMIM:608233
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Anal fissure, Mitten deformity, Decreased circulating carnitine concentration, Gastroesop... ORPHA:89842
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Distal Duplication 5Q
Dextrocardia, Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Aplasia/Hypo... ORPHA:96097
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Pleural lymphang... OMIM:235510
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Irritability, Ataxia, Cherry red spot of the macula, Optic disc pallor OMIM:615281
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... OMIM:102700
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Hypospadias, Patent foramen ovale, Abnormal vena cava morphology, Peripheral pulm... ORPHA:163956
Koolen-De Vries Syndrome
Aortic root aneurysm, Abnormality of hair texture, Cryptorchidism, Pulmonic stenosis, Short statu... OMIM:610443
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Hirsutis... OMIM:615962
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Testicular atrophy OMIM:601163
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thick hair, Highly arched eyebrow, Hirsutism, Laterally extended eyebrow, Cryptorchidism, Pulmoni... OMIM:610759
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Small nail, Cryptorchidism, Short stature, Sparse eyebrow, Ventr... OMIM:612530
Arts Syndrome
Optic atrophy, Ataxia, Dysphagia OMIM:301835
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Friedreich Ataxia
Optic atrophy, Pes cavus, Limb ataxia, Abnormal foot morphology, Gait imbalance, Inability to wal... ORPHA:95
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Autosomal Dominant Hypocalcemia
Optic atrophy, Congestive heart failure, Reduced bone mineral density, Hypocalcemia, Depression, ... ORPHA:428
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Athetosis, Ataxia, Abnormal circulating creatine concentrat... ORPHA:52503
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L... ORPHA:239
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Kleefstra Syndrome
Supernumerary nipple, Hypospadias, Hypoplasia of penis, Highly arched eyebrow, Cryptorchidism, Sh... ORPHA:261494
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Patent foramen ovale, Short stature, Cafe-... OMIM:609053
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Micropenis, Absent nipple OMIM:618021
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hyperconvex nail, Nail dystrophy, Vaginal dryness, Hypospadias, Supernumerary nipple, Hyperpigmen... OMIM:106260
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Verheij Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Ventricular sep... OMIM:615583
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Pes cavus, Difficulty walking, Waddling gait, Elevated circulating creatine kinase... OMIM:251900
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Hypercalcemia, Cerebral hemorr... OMIM:171420
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Abnormal T cell count, Co... OMIM:307200
Friedreich Ataxia
Optic atrophy, Congestive heart failure, Decreased sensory nerve conduction velocity, Pes cavus, ... OMIM:229300
De Barsy Syndrome
Postnatal growth retardation, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins ... ORPHA:2962
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short finger, Bradycardia, Optic nerve hypoplasia, Delayed proximal femoral epiphyseal ossificati... ORPHA:226307
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short finger, Small epiphyses, High palate, Flared iliac wing, Coxa vara, Metaphyseal cupping of ... OMIM:300232
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Medial flaring of the eyebrow, Broad eyebrow, Patent foramen ovale,... OMIM:620113
Triple A Syndrome
Optic atrophy, Pes cavus, Abnormal calf musculature morphology, Ataxia, Palmoplantar keratoderma,... ORPHA:869
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Generalized Glucocorticoid Resistance Syndrome
Frontal balding, Abnormal circulating testosterone concentration, Stroke, Hirsutism, Oligozoosper... ORPHA:786
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Sea-blue histiocytosis, Gait disturbance, Protruding tongue, Hypoplastic vertebral... OMIM:230600
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Bohring-Opitz Syndrome
Optic atrophy, Inability to walk, Bradycardia, Metacarpophalangeal joint contracture, Retinal atr... ORPHA:97297
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Coarctation of aorta, Tet... OMIM:618748
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Flexion contracture, Atrial septal defect, Ventricular septal d... OMIM:309520
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Myotonic Dystrophy 1
Frontal balding, Cholelithiasis, Facial diplegia, Hypogonadism, Testicular atrophy OMIM:160900
Coffin-Siris Syndrome 7
Hypoplastic fifth toenail, Patent foramen ovale, Sparse scalp hair, Short stature, Thick eyebrow,... OMIM:618027
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Synophrys, Long eyelashes, Arthrogryposis multiplex congenita, Thick eyebro... OMIM:614961
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Cohen Syndrome
Delayed puberty, Thick hair, Abnormal eyelash morphology, Cryptorchidism, Short stature, Long eye... ORPHA:193
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Ascending tubular aorta aneurysm, Cryptorchidism, Sparse... ORPHA:444072
Atypical Werner Syndrome
Delayed puberty, Reduced bone mineral density, Hypogonadism, Fasting hyperinsulinemia, Chondrocal... ORPHA:79474
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocardia, Ventricular se... OMIM:619657
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles OMIM:619132
Fetal Cytomegalovirus Syndrome
Optic atrophy, Anemia, Chorioretinitis, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Conju... ORPHA:294
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Attention deficit hyperactivity disorder, Abnormal stomach morphology ORPHA:281090
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Hypocalcemia, Ti... ORPHA:352540
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hypospadias, Cryptorchidism, Blue irides, Fair hair OMIM:614613
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD... ORPHA:760
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg... OMIM:616084
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Hypospadias, Aortic root aneurysm, Patent foramen ovale, Thyrogl... ORPHA:2745
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Abnormality of the medullary cavity of the long bones, Retina... OMIM:127000
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Hyperactivity, Hypertension, Intestinal malrotation, Bifid uvula, Sp... OMIM:270400
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Pes cavus, Macrocytic anemia, Temporal optic disc pallor, Gait disturbance, Ataxia... ORPHA:98673
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele ORPHA:398156
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Cerebellofaciodental Syndrome
Cryptorchidism, Short stature, Sparse eyebrow, Mitral valve prolapse, Fine hair, Ventricular sept... OMIM:616202
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Shuffling gait, Gait disturbance, Dysphagia, Motor axonal neuropathy ORPHA:289560
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypochromia, Ret... ORPHA:71275
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Congestive heart failure, Anemia, Inability to walk, Clubbing, Hypertrophic cardio... OMIM:617303
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Short stature, Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus OMIM:300472
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Hirsutism, Cardiomyopathy, Short stature, C... ORPHA:354
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Osteopenia, Difficulty walking, Osteoporosis, Gait ataxia, Dysmetria ORPHA:529665
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Absent gallbladder, Aor... ORPHA:210122
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Optic nerve hypoplasia, B lymphocytopenia, Arthritis, Decreased proportion of CD4-pos... ORPHA:221139
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Trichohepatoenteric Syndrome 1
Trichorrhexis nodosa, Large placenta, Hepatomegaly, Hypospadias, Brittle hair, Generalized hypopi... OMIM:222470
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly OMIM:615085
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Vaginal hernia, Thick eyebrow, Umbilical herni... ORPHA:96129
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior rib ends, Persis... OMIM:260400
Chromosome 9P Deletion Syndrome
Narrow nail, Hyperconvex nail, Perimembranous ventricular septal defect, Hypospadias, Highly arch... OMIM:158170
Zellweger Syndrome
Clitoral hypertrophy, Hepatomegaly, Hypospadias, Cryptorchidism, Short stature, Primary adrenal i... ORPHA:912
Burn-Mckeown Syndrome
Short stature, Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature OMIM:609654
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacral vertebrae, C... OMIM:105650
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Pes cavus, Difficulty walking, Impaired tandem gait, Inability to walk, Oral-phary... ORPHA:254930
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Patent foramen ovale, Anterior pi... OMIM:613457
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Abnormal circulating renin, Adrenal hyperplasia, Hyperaldosteronism, Int... ORPHA:369929
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Pes cavus, Inability to walk, Sensory axonal neuropathy, Absent Achilles reflex, A... OMIM:609541
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Pancreatic aplasia, Pulmonic stenosis, Umbilical hernia, Intraut... ORPHA:2255
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Dysplastic pulmonary valve, Cryptorchidism, Sparse lateral eyebrow, Ventricular sept... OMIM:619103
Xq12-Q13.3 Duplication Syndrome
Agitation, 2-3 toe syndactyly, Elevated circulating creatine kinase concentration, Cutaneous fing... ORPHA:314389
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:616896
Sickle Cell Disease
Splenic infarction, Leukocytosis, Retinopathy, Target cells, Splenomegaly, Increased red cell sic... OMIM:603903
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Hypertrophic cardiomyopathy, Ataxia, Dilated cardiomyopathy, Hyperglycinemia, Leth... OMIM:614299
Char Syndrome
Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus ORPHA:46627
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Broad-based gait, Ataxia, Dysphagia, Dysmetria OMIM:618233
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... ORPHA:75565
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Bradykinesia, Abnormal foot morphology, Akinesia, Hype... OMIM:234200
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Congestive heart failure, Limb ataxia, Depression, Truncal ataxia, Cardiomyopathy,... OMIM:619259
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugated hyperbilirubinem... OMIM:613280
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Muscle-Eye-Brain Disease
Optic atrophy, Elevated circulating creatine kinase concentration, Gait disturbance ORPHA:588
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Encephalocele, Meningocele, Abnormal aor... ORPHA:991
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Osteoporosis, L... OMIM:127550
Radio-Tartaglia Syndrome
High anterior hairline, Small nail, Highly arched eyebrow, Hirsutism, Long eyebrows, Long eyelash... OMIM:619312
Cholera
Irritability, Hypokalemia, Tachycardia, Hypocalcemia, Achlorhydria, Hypotension, Hypovolemic shoc... ORPHA:173
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovo... OMIM:309801
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular sept... OMIM:619995
Diamond-Blackfan Anemia
Normochromic anemia, Macrocytic dyserythropoietic anemia, Leukopenia, Absent thumb, Neutropenia, ... ORPHA:124
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Familial Dysautonomia
Optic atrophy, Orthostatic hypotension, Gastroesophageal reflux, Hypertension, Gait disturbance, ... ORPHA:1764
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Mesomelic l... OMIM:603671
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Abnormal testis morphology, Multiple cafe-au... ORPHA:100
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Short stature, Camptodactyly of finger, Umbilical hernia, Ventri... ORPHA:1488
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru... ORPHA:99829
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Aortic root aneurysm, Elbow flexion contracture, Wrist flexion contract... OMIM:121050
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Nephrogenic diabetes insipidus, Arthrogryposis multiplex congenita, Right ventricul... OMIM:613404
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay, Splenomegaly, Pat... OMIM:614576
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Elevated hemoglobin A1c, S... OMIM:269700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Hypocholesterolemia, Micrognathia, Hypertrophic cardiomyopathy OMIM:618810
Pelger-Huet Anomaly
Lower limb hypertonia, Foot dorsiflexor weakness, Umbilical hernia, Ventricular septal defect, Mi... OMIM:169400
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis ORPHA:676
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Frontal upsweep of hair, Hirsutism, Scapular winging, Synophrys, Low anterior hairline, Thick eye... OMIM:617061
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Iron deficiency anemia, Increased serum bile acid concentr... OMIM:616278
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Cleft pal... OMIM:605282
Carpenter Syndrome
Craniosynostosis, Genu valgum, Abnormal cornea morphology, Polysplenia ORPHA:65759
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Kagami-Ogata Syndrome
Hepatomegaly, Diastasis recti, Pulmonic stenosis, Frontal hirsutism, Splenomegaly, Flexion contra... OMIM:608149
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Growth delay, Frontal upsweep of hair, Ventricular septal defect, Micropenis OMIM:617798
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Pancreatic islet-cell ... OMIM:246200
Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Cryptorchidism, Short stature, Patent ductus arteriosus, Ab... OMIM:300712
Carney Complex
Ductal carcinoma in situ, Multiple lentigines, Neoplasm of the pancreas, Pituitary growth hormone... ORPHA:1359
Kury-Isidor Syndrome
Growth delay, Ventricular septal defect, Hypertrichosis, Alopecia OMIM:619762
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Short stature, Patent ductus arteriosus, Atrial septal de... OMIM:618870
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal vagina ... ORPHA:3440
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial diplegia, Ataxia, Facial paralysis, Dysphagia, Paralytic ileus OMIM:613559
Spinocerebellar Ataxia Type 13
Optic atrophy, Bradykinesia, Limb ataxia, Difficulty walking, Gait ataxia, Dysphagia, Optic disc ... ORPHA:98768
Carney Triad
Gastrointestinal hemorrhage, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertension, ... ORPHA:139411
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Multiple lentigines, Loose anagen hair, Hyperpigmentation of the skin, Sparse scalp hair, Hypertr... OMIM:607721
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Bradykinesia, Hyperactivity, Emotional lability, Dysdiadochokinesis, Impulsivity, ... OMIM:610217
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Hypospadi... OMIM:265380
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Ragged-red muscle fibers, Secondary amenorrhea, Facial palsy, EM... OMIM:157640
Mohr-Tranebjaerg Syndrome
Optic atrophy, Inability to walk, Shuffling gait, Absent brainstem auditory responses, Dysphagia,... ORPHA:52368
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Eosinophilia, Reduced nat... OMIM:243700
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Ventricular septal defect, Flexion contracture ORPHA:79243
Fanconi Anemia, Complementation Group C
Hyperpigmentation of the skin, Ventricular septal defect, Hypergonadotropic hypogonadism, Short s... OMIM:227645
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect OMIM:617895
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Delayed cranial suture closure, Hypothyroidism, Severe B lymphocytopeni... OMIM:620005
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Megaloblastic anemia, Abnormal autonomic nervous system physiology, Sideroblastic ... OMIM:598500
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Congenital Sialidosis Type 2
Optic atrophy, Polydactyly, Yellow/white lesions of the retina, Protruding tongue, Hepatosplenome... ORPHA:93400
Tatton-Brown-Rahman Syndrome
Horizontal eyebrow, Thick eyebrow, Umbilical hernia, Atrial septal defect, Ventricular septal defect OMIM:615879
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Birk-Landau-Perez Syndrome
Optic atrophy, Hyperkalemia, Limb ataxia, Difficulty walking, Hypertension, Increased circulating... OMIM:617595
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Delayed puberty, Osteopenia, Abnormality of the endocrine system, Pr... ORPHA:391487
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Alg6-Cdg
Hypoalbuminemia, Increased circulating androgen concentration, Macroglossia, Puberty and gonadal ... ORPHA:79320
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Subarterial ventricular septal defect, Patent foramen o... ORPHA:99094
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Anemia, Bradycardia, Osteoporosis, Abnormal fingertip morphology, ... ORPHA:79404
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Pes cavus, Decreased nerve conduction velocity, Achilles tendon contracture, Ataxi... OMIM:612674
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Osteopenia, Genu valgum, Retinal telangiectasia, Anemia, Metaphyseal sclerosis, Ga... OMIM:612199
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Ascending tubular aorta aneurysm, Cryptorchidis... ORPHA:453499
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles OMIM:608907
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Anemia, Pancytopenia, Hypertension, Abnormal erythrocyte enzyme concen... ORPHA:447
Angelman Syndrome
Optic atrophy, Pes valgus, Abnormality of the gastrointestinal tract, Inability to walk, Tongue t... ORPHA:72
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Cryptorchidism, Pulm... OMIM:609942
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Rheumatoid arthritis, Pure red cell aplasia, Imba... ORPHA:99867
Spastic Paraplegia Type 2
Optic atrophy, Spastic gait, Pulmonary embolism, Ataxia ORPHA:99015
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
C Syndrome
Clitoral hypertrophy, Hepatomegaly, Cryptorchidism, Short stature, Patent ductus arteriosus, Vent... OMIM:211750
Zika Virus Disease
Ankle swelling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Thr... ORPHA:448237
Ivic Syndrome
Synostosis of carpal bones, Leukocytosis, Joint stiffness, Thrombocytopenia, Radioulnar synostosis ORPHA:2307
Pallister-Hall Syndrome
Nail dysplasia, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Panhyp... OMIM:146510
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Absent paranasal sinuses, Optic atr... OMIM:224300
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Rectovaginal fistula, Tetra... ORPHA:1780
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Aortic root aneurysm, Aortopulmonary window, Aplasia of the left hemidiaphragm, Cry... OMIM:620025
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Median cleft palate, Mirror ima... OMIM:119800
Bohring-Opitz Syndrome
Hyperechogenic pancreas, Thick hair, Mesomelic/rhizomelic limb shortening, Hirsutism, Camptodacty... OMIM:605039
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Hypospadias, Anencephaly, Abnormal vagina morphology, Bifid... OMIM:236680
Fabry Disease
Abnormal circulating lipid concentration, Reduced bone mineral density, Abnormal femur morphology... ORPHA:324
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Sotos Syndrome
High anterior hairline, Muscular ventricular septal defect, Small nail, Ventricular septal defect... OMIM:117550
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, High palate, Cardiomyopathy, Gait ataxia, Micrognathia, Ataxia, Loss of ambulation... OMIM:620089
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Hypoplastic fifth toenail, Patent foramen ovale, Contracture of ... ORPHA:457279
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Progressive cerebellar ataxia, Elevated circulating C-reactive ... OMIM:610377
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619769
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Chronic irritative conjunctivitis, Neutropenia OMIM:258360
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Hypoplastic fingernail, Patent ductus arteriosus, Low anterior hairline, Anonychia, Hypoplastic t... OMIM:220500
Bone Marrow Failure Syndrome 5
Nail dystrophy, Short stature, Growth delay, Reticular hyperpigmentation, Hypogonadism, Testicula... OMIM:618165
Heart And Brain Malformation Syndrome
Limb hypertonia, Interrupted aortic arch, Growth delay, Camptodactyly of finger, Ventricular sept... OMIM:616920
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Prolonged QT interval, Gastritis, Hypocalcemia, Atrial fi... ORPHA:31826
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture OMIM:147800
Opitz Gbbb Syndrome
Hypospadias, Cryptorchidism, Growth delay, Umbilical hernia, Ventricular septal defect, Micropeni... OMIM:300000
Holt-Oram Syndrome
Proximal placement of thumb, Pulmonic stenosis, Aplasia of the 1st metacarpal, 1-2 finger syndact... OMIM:142900
Prader-Willi Syndrome
Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline... OMIM:176270
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Nail dysplasia, Small nail, Highly arched eyebrow, Patent forame... OMIM:618454
Aicardi-Goutieres Syndrome 9
Optic atrophy, Irritability, Anemia, Increased blood pressure, Chorioretinal atrophy, Hypertensio... OMIM:619487
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Pulmonary artery atresia, Camptodactyly, Clitoral hypoplasia, Cryptorchidis... OMIM:616894
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Renal insuff... OMIM:203300
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Splenomegaly, Diabetes mel... OMIM:608594
16P13.11 Microdeletion Syndrome
Cryptorchidism, Short stature, Camptodactyly of finger, Atrial septal defect, Ventricular septal ... ORPHA:261236
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Neutropenia OMIM:300755
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Spina bifida occulta, Highly arched eyebrow, Camptodactyly, Low posterior hairline, Short stature... OMIM:617360
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Right v... OMIM:208085
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... OMIM:208500
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect OMIM:601357
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Athetosis, Pigmentary retinopathy, Gait disturbance, Ataxia, Dysphagia, Loss of am... OMIM:617282
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Ventricular septal defect, Splenomegaly, Hepatomegaly OMIM:615630
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Joubert Syndrome 1
Retinal dystrophy, Retinal dysplasia, Hyperactivity, Postaxial hand polydactyly, Protruding tongu... OMIM:213300
Lateral Meningocele Syndrome
Meningocele, Low posterior hairline, Cryptorchidism, Umbilical hernia, Ventricular septal defect ORPHA:2789
Chromosome 6Pter-P24 Deletion Syndrome
Frontal upsweep of hair, Patent foramen ovale, Umbilical hernia, Tetralogy of Fallot, Patent duct... OMIM:612582
Walker-Warburg Syndrome
Optic atrophy, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Abnormal circulating cre... ORPHA:899
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Hand-Foot-Genital Syndrome
Hypospadias, Hypoplastic fifth toenail, Bicornuate uterus, Abnormality of the uterus, Ventricular... ORPHA:2438
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Gastroesophageal reflux, Hyperactivity, Depression, Hyper... ORPHA:449291
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Dietary Iron Overload Disease
Congestive heart failure, Hepatocellular carcinoma, Osteoporosis, Esophageal carcinoma, Elevated ... ORPHA:139507
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Hypospadias, Cryptorchidism, Short stature, Umbilical hernia, Ve... OMIM:618846
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Hypouricemia, Abnormal erythrocyte enzyme concentration or activity, Ataxia, Decre... ORPHA:1187
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short stature, Atrial septal defect, Ventricular septal defect ORPHA:261190
L-2-Hydroxyglutaric Aciduria
Optic atrophy, L-2-hydroxyglutaric acidemia, Ataxia OMIM:236792
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Persistence of hemoglobin F OMIM:617101
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Pes cavus, Difficulty walking, Peripheral axonal neuropathy, Decreased number of p... ORPHA:320406
Dubowitz Syndrome
Aplastic anemia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hyperactivity, High pal... OMIM:223370
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Acquired Generalized Lipodystrophy
Unicameral bone cyst, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele OMIM:620511
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Agitation, Anemia, Elevated circulating C-reactive protein concentration, Pancytop... OMIM:615688
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Reduced renal corticomedullary differentiation, Hypopigmentation of the skin, ... OMIM:618541
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Hyperactivity, Peripheral axonal neuropathy, Gait disturba... ORPHA:139396
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... ORPHA:35078
Acrootoocular Syndrome
Short finger, High, narrow palate, Sandal gap, Short metacarpal, Choking episodes, Prominent calc... ORPHA:2980
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Ataxi... ORPHA:79282
Mosaic Trisomy 20
Ventricular septal defect, Hypopigmented streaks, Abnormal mitral valve morphology, Dysplastic tr... ORPHA:1724
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Cryptorchidism, Short stature, Aplasia/Hypoplasia of the na... ORPHA:163979
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
ERI1-related disease
Short stature, Abnormal heart morphology, Low anterior hairline, Sparse hair, Anonychia, Intraute... OMIM:608739
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Neoplasm of the gallbladder, Addictive behavio... ORPHA:512
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Contractures of the large joints, Ventricular septal defect ORPHA:3078
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Calvarial osteosclerosis, Retinal calcification, Decreased skull o... ORPHA:93325
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrioventricular canal defect, Thyroid agenesis, Thyroid hypoplasia, Cryptorchidism, Growth delay... ORPHA:3047
Tarp Syndrome
Optic atrophy, Hypoplasia of the radius, Rocker bottom foot, Meckel diverticulum, Athetosis, Subd... OMIM:311900
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricula... OMIM:300967
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Normocytic anemia, Pes valgus, Limitation of knee mobility, 11 pairs of ribs,... OMIM:618947
Trichothiodystrophy
Numerous pigmented freckles, Gonadal dysgenesis, Alopecia of scalp, Dystrophic fingernails, Multi... ORPHA:33364
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Anorexia, Gastrointestinal hemorrhage, Genu valgum, Retinal detachment, Hypertensi... ORPHA:394
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Coronary artery atherosclerosis, Pulmonic stenosis, Skeletal muscle atr... ORPHA:435638
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
2Q31.1 Microdeletion Syndrome
Abnormal hair morphology, Cryptorchidism, Short stature, Camptodactyly of finger, Synophrys, Abno... ORPHA:251014
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Increased bone mineral density, Hyperoxaluria, Optic... OMIM:259900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, External genital hypoplasia, Cryptorchidism, Decreased testicular s... ORPHA:251028
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Hirsutism, Diastasis recti, Cryptorchidism... ORPHA:488632
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Small nail, Hypoplastic thumbnail, Elbow flexion contracture, Pu... ORPHA:1692
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Bicornuate uterus, Diaphragmatic eventration, Umbilical hernia, ... OMIM:222448
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Perimembranous ventricular septal defect, Hypospadias, Cryptorchidi... OMIM:301040
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Hypopigmentation of hair ORPHA:70472
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Pes cavus, Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Jacobsen Syndrome
Annular pancreas, Hypospadias, Labial hypoplasia, Abnormal eyelash morphology, Clitoral hypoplasi... OMIM:147791
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Hypotension, Motor stereotypy ORPHA:79155
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Cerebral Visual Impairment
Optic atrophy, Ischemic stroke, Optic nerve hypoplasia, Attention deficit hyperactivity disorder,... ORPHA:447788
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Amelia, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotati... ORPHA:2538
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Reduced bone mineral density, Hypotriglyceridemia, Impaired oral bolu... ORPHA:404454
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Hypospadias, Sparse hair, Atrial septal defect, Ventricular septal defect OMIM:616449
Myhre Syndrome
Skeletal muscle hypertrophy, Birth length less than 3rd percentile, Camptodactyly, Cryptorchidism... OMIM:139210
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Pulmonary artery atresia, Sparse scalp hair, Long eyelashes, Pulmonic s... OMIM:614609
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Tay-Sachs Disease
Optic atrophy, Inability to walk, Ankle clonus, Depression, Increased serum beta-hexosaminidase, ... ORPHA:845
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyc... ORPHA:71212
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Peroxisome Biogenesis Disorder 5A (Zellweger)
Splenomegaly, Heart murmur, Optic nerve dysplasia, Optic atrophy, Aortic regurgitation, Camptodac... OMIM:614866
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Trisomy 18
Congenital diaphragmatic hernia, Anencephaly, Cryptorchidism, Short stature, Growth delay, Spina ... ORPHA:3380
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Enlarged polycystic ovar... ORPHA:64739
Mucopolysaccharidosis Type 3
Reduced bone mineral density, Hyperactivity, Ataxia, Splenomegaly, Dysphagia, Hypersexuality, Agg... ORPHA:581
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, High palate, Congenital hip dislocation, Metatarsus adductus, Int... OMIM:244450
X Small Rings
Premature ovarian insufficiency, Aortic root aneurysm, Low posterior hairline, Growth delay, Mitr... ORPHA:96201
Oculodentodigital Dysplasia
Ataxia, Clinodactyly, Optic atrophy, Cranial hyperostosis, Cleft palate, Preaxial hand polydactyl... ORPHA:2710
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Hypoplastic aortic arch, Highly arched eyebr... ORPHA:508488
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... ORPHA:137675
Giant Cell Arteritis
Optic atrophy, Anorexia, Gastrointestinal infarctions, Glossitis, Vasculitis, Depression, Cerebra... ORPHA:397
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect, Synophrys ORPHA:476126
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Cryptorchidism, Female pseudohermaphroditism, Umbilical hernia, Tetralogy ... ORPHA:1519
Retinitis Pigmentosa With Or Without Skeletal Anomalies
High anterior hairline, Small nail, Short stature, Sparse eyelashes, Cafe-au-lait spot, Sparse ey... OMIM:250410
Lissencephaly 9 With Complex Brainstem Malformation
Short stature, Ventricular septal defect OMIM:618325
Catel-Manzke Syndrome
Postnatal growth retardation, Dextrocardia, Camptodactyly, Cryptorchidism, Coarctation of aorta, ... OMIM:616145
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia OMIM:618314
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Microphthalmia, Syndromic 3
Postnatal growth retardation, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Short s... OMIM:206900
Polycythemia Vera
Acute leukemia, Myelofibrosis, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:729
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Adams-Oliver Syndrome 1
Encephalocele, Small nail, Alopecia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis,... OMIM:100300
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia OMIM:617248
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Muscular dystrophy, ... ORPHA:2461
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Pes cavus, Contracture of the proximal interphalangeal joi... ORPHA:293967
Leukocyte Adhesion Deficiency
Perianal abscess, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia, Leukocytosis, Abnormalit... ORPHA:2968
Codas Syndrome
Short stature, Ventricular septal defect ORPHA:1458
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Rectovaginal fistula, Lymphopenia, Bilateral talipes equinovarus, Inflammation of ... OMIM:619708
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Hyperostosis, Conjunctival telangiectasia, Dysphagia, Abnormal... ORPHA:3205
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Fractures of the long bones, Elevated circulating creatine kinase concentration, C... ORPHA:496641
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Alkaptonuria
Increased susceptibility to fractures, Reduced bone mineral density, Joint dislocation, Arthritis... ORPHA:56
Hyper-Igd Syndrome
Arthritis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod-cone dystrophy, Opti... OMIM:260920
Dpagt1-Cdg
Optic atrophy, Emotional blunting, Akinesia, Prolonged QT interval, Anemia, Inability to walk, He... ORPHA:86309
X-Linked Charcot-Marie-Tooth Disease Type 2
Pes cavus, Distal lower limb muscle weakness, Peroneal muscle weakness, Steppage gait, Optic neur... ORPHA:101076
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Nail dystrophy, Reticulated skin pigmentation, Testicular atrophy OMIM:613987
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Congestive heart failure, Anemia, Inability to walk, Pulmonary arterial hypertensi... ORPHA:505248
Immunodeficiency 82 With Systemic Inflammation
Anemia, B lymphocytopenia, Arthritis, Decreased proportion of naive T cells, T lymphocytopenia, J... OMIM:619381
Joubert Syndrome 14
Encephalocele, Meningocele, Highly arched eyebrow, Growth delay, Intracranial hemorrhage, Ventric... OMIM:614424
Combined Immunodeficiency-Enteropathy Spectrum
Nail dystrophy, Alopecia of scalp, Hypoplasia of the thymus, Abnormal ductus choledochus morpholo... ORPHA:436252
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Short stature, Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Generalized Pustular Psoriasis
Arthritis, Leukocytosis, Lymphopenia ORPHA:247353
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Pulmonic stenosis, Congenital malformation of the left he... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Alopecia of scalp, Hypospadias, Broad eyebrow, Long penis, Small nail, Increased serum testostero... OMIM:264090
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... OMIM:616652
Argininemia
Anorexia, Spastic gait, Irritability, Reduced erythrocyte arginase activity, Hyperactivity, Hyper... OMIM:207800
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles OMIM:606688
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hypospadias, Aortic aneurysm, Cryptorchidism, Aortic valve steno... ORPHA:96121
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Short metatarsal, Epiphyseal stippling, Cone-shaped epiphyses of the phalanges of ... OMIM:101800
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia... OMIM:274000
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Spina bifida occulta, Short stature, Growth delay, Pulmonary artery sten... OMIM:301030
Orofaciodigital Syndrome V
Ventricular septal defect, Tetralogy of Fallot, Unilateral cryptorchidism OMIM:174300
Larsen Syndrome
Spina bifida occulta, Aortic aneurysm, Cryptorchidism, Short stature, Short nail, Intrauterine gr... OMIM:150250
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Gait ataxia, Cardiac conduction abno... ORPHA:255210
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con... ORPHA:64
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Abnormal tricuspid valve morphology, Disproportionate shor... ORPHA:1507
Cocaine Intoxication
Ischemic stroke, Agitation, Gastrointestinal infarctions, Prolonged QT interval, Supraventricular... ORPHA:90068
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait ataxia, Dysmetria ORPHA:504476
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Ataxia, Abnormality of the plantar skin of... ORPHA:909
Galloway-Mowat Syndrome 7
Short stature, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Optic nerve compress... OMIM:612301
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Rubinstein-Taybi Syndrome 1
Highly arched eyebrow, Low posterior hairline, Premature thelarche, Mitral valve prolapse, Perime... OMIM:180849
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Sparse eyelashes, Sparse eye... ORPHA:1071
Mgat2-Cdg
Abnormality of the endocrine system, Hirsutism, Hypoplastic nipples, Long eyelashes, Abnormal hea... ORPHA:79329
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Anencephaly, Patent foramen ovale, Hypoplastic nipples, Neonatal death, Splenomegal... OMIM:269860
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Brushfield s... OMIM:214100
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Wolff-Parkinson-White syndrome, Hypertension, Ataxia, Unsteady gait, Shortened PR ... OMIM:614947
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Hypospadias, Birth length less than 3rd percentile, Cryptorchidism, Ao... ORPHA:464311
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Conjunctivitis, Neutropenia OMIM:601495
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Hype... ORPHA:580
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Palpitations, Retinal detachment, Pancreatic endo... ORPHA:892
Cat Eye Syndrome
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Umbilical hernia, ... OMIM:115470
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Nail dysplasia, Ventricular septal defect, Precocious puberty, Cerebral hemorrhage, Sparse hair, ... OMIM:616682
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hepatomegaly, Rhizomelia, Torticollis, Abnormal left ventr... ORPHA:79328
Pheochromocytoma
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Hypercalcemia, Cerebral hemorr... OMIM:171300
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Hepatocellular carcinoma, Abnormal erythrocyte enzy... ORPHA:101330
3Mc Syndrome 1
Postnatal growth retardation, Spina bifida occulta, Highly arched eyebrow, Diastasis recti, Synop... OMIM:257920
Hyperthyroidism, Nonautoimmune
Increased circulating thyroglobulin concentration, Hyperactivity, Tachycardia OMIM:609152
Dysosteosclerosis
Optic atrophy, Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral ... ORPHA:1782
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Tenorio Syndrome
Osteopenia, Delayed cranial suture closure, Hypoinsulinemia, Joint hypermobility, Hypoglycemia, K... OMIM:616260
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Contracture of the proximal interphalangeal joint of the 5th finge... OMIM:280000
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Hypospadias, Curly eyelashes, Highly arched eyebrow, Hypoplastic... OMIM:122470
Codas Syndrome
Atrioventricular canal defect, Rectovaginal fistula, Cryptorchidism, Short stature, Atrial septal... OMIM:600373
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Cholelithiasis, Thoracic hypertrichosis, Hypoplastic nipples, Woolly hair, Curly ha... OMIM:618268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplastic toenails, Decreased response to growth hormone stimulation test, Hypospadias, Facial ... ORPHA:444077
Basel-Vanagaite-Smirin-Yosef Syndrome
Left superior vena cava draining to coronary sinus, Hypospadias, Cholelithiasis, Male urethral me... ORPHA:464738
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens, Ventricular septal defect ORPHA:411709
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Hypopigmentation of the skin, Pulmonic stenosis, Abnormal heart morphology, Bicus... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Hypopigmentation of the skin, Pulmonic stenosis, Abnormal heart morphology, Bicus... ORPHA:363958
Distal 22Q11.2 Microdeletion Syndrome
Aortic aneurysm, Highly arched eyebrow, Truncus arteriosus, Absent fingernail, Short stature, Gro... ORPHA:261330
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Noonan Syndrome 1
Postnatal growth retardation, Male infertility, Hypospadias, Hypertrophic cardiomyopathy, Cryptor... OMIM:163950
Microphthalmia, Syndromic 2
Pulmonic stenosis, Aortic valve stenosis, Mitral valve prolapse, Laterally curved eyebrow, Umbili... OMIM:300166
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Short stature, Growth delay, Pate... OMIM:613309
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal number of hair whorls, Ventricular septal defect, Pulmonary artery atresia, Supravalvar ... OMIM:618164
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Decreased c... OMIM:231550
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Aortic root aneurysm, Patent foramen ovale, Scapular winging, Congeni... OMIM:615582
Primary Hyperoxaluria
Optic atrophy, Heart block, Choroidal neovascularization, Hyperoxaluria, Cardiomyopathy, Retinopa... ORPHA:416
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Broad eyebrow, Small nail, Patent foramen ovale, Multiple cafe-au-... OMIM:616975
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Multiple joint contractures, Anterior pituitary hypoplasia, Crypt... ORPHA:464306
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Conjunctivitis, Eosinophilia, Neutropenia ORPHA:293173
Holoprosencephaly
Congenital diaphragmatic hernia, Anterior hypopituitarism, Hypoplasia of penis, Encephalocele, Br... ORPHA:2162
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Ventricular hypertrophy, Pulmonic stenosis, Umbilical hernia, Short stature... OMIM:620654
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Hajdu-Cheney Syndrome
Hypospadias, Patent ductus arteriosus, Hirsutism, Ventricular septal defect, Long eyelashes, Shor... OMIM:102500
Cushing Disease
Optic nerve compression, Decreased eosinophil count, Increased urinary cortisol level, Leukocytos... ORPHA:96253
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Gastroesophageal reflux, Small intestinal dysmotility, Ineffective esophageal... OMIM:619482
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Abnormal circu... OMIM:612716
Alzahrani-Kuwahara Syndrome
Hypospadias, Hyperpigmentation of the skin, Patent foramen ovale, Coronary sinus enlargement, Sho... OMIM:619268
Cogan Syndrome
Anemia, Leukocytosis, Keratitis, Conjunctivitis, Thrombocytosis ORPHA:1467
Charge Syndrome
Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Dysphagia, Lymphopenia, Absent radius... OMIM:214800
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Melas
Optic atrophy, Wolff-Parkinson-White syndrome, Anemia, Concentric hypertrophic cardiomyopathy, In... ORPHA:550
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Hypospadias, Lower-limb joint contracture, Hirsutism, Cryptorchidism, Decreased ... ORPHA:459070
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal... OMIM:620066
Fryns Syndrome
Stillbirth, Hypospadias, Facial hirsutism, Small nail, Bifid scrotum, Bicornuate uterus, Camptoda... OMIM:229850
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Talipes valgus, Clinodactyly of the 5th finger, Inability to walk, Gastroesophageal r... OMIM:620083
Renpenning Syndrome 1
Situs inversus totalis, Hypospadias, Brittle hair, Phimosis, Camptodactyly, Decreased testicular ... OMIM:309500
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Right aortic arch, Double aortic arch, Abnormal heart ... ORPHA:95430
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Falls, Depression, Loss of ambulation, Dysphagia, Progressive gait ataxia ORPHA:329308
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Transposition of the great arteries, Small placenta, Hydranence... OMIM:256520
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, Abnormal left ventricle morphology, Patent foramen ovale, Anterior pituitary hyp... ORPHA:466791
Triosephosphate Isomerase Deficiency
Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macro... OMIM:615512
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, High palate, Bowing of the long bones, Tricuspid regurgitat... OMIM:614437
Wolfram Syndrome
Optic atrophy, Polydipsia, Gastrointestinal hemorrhage, Anemia, Cardiomyopathy, Abnormal autonomi... ORPHA:3463
Leptospirosis
Anorexia, Optic neuritis, Chorioretinitis, Macular cotton wool spot, Retinal hemorrhage, Hypotens... ORPHA:509
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Joint stiffness, Abnormal hemoglobin, Flexion contracture ORPHA:847
Down Syndrome
Delayed puberty, Atrioventricular canal defect, Short stature, Secundum atrial septal defect, Tet... ORPHA:870
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Dislocated radial he... OMIM:164745
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Early ossification of capital femoral epiphyses, Retinal dystrophy, Ap... ORPHA:397715
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Hirsutism, Long eyelashes, Short stature, Thick eyebrow, Sparse hai... OMIM:212066
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Cryptorchidism, Growth delay, Micropenis, Umbilical hernia, Ventricular sep... OMIM:613884
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Umbilical hernia, Cardiomegaly, Bicuspid aortic valve, ... OMIM:300855
Distal 22Q11.2 Microduplication Syndrome
Hypoplastic toenails, Tricuspid valve prolapse, Low posterior hairline, Cryptorchidism, Camptodac... ORPHA:261337
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Osteopetrosis, Anemia, Pancytopenia, Hypocalcemia, Retinal atrophy, High palate, E... ORPHA:2785
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intrauterine growth retardation, Ventricular septal defect, Hypoplasia of the thymus OMIM:243150
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Elevated circulating creatine kinase conce... OMIM:610505
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Teebi-Shaltout Syndrome
Highly arched eyebrow, Slow-growing hair, Camptodactyly, Aortic valve stenosis, Short stature, Lo... OMIM:272950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Short stature, Hip ... OMIM:178110
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... OMIM:615067
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse hair, Intrauterine growth retardation, Fine hair, Muscular ventricular septal defect, Pate... OMIM:210710
Leukocyte Adhesion Deficiency, Type I
Rectal abscess, Leukocytosis, Osteomyelitis OMIM:116920
Tangier Disease
Hypertriglyceridemia, Anemia, Peripheral axonal neuropathy, Facial diplegia, Hepatosplenomegaly, ... ORPHA:31150
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Talipes valgus, Genu valgum, Aortic regurgitation, Pancytopenia... ORPHA:309282
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Truncus art... ORPHA:508498
Legius Syndrome
Polydactyly, Xanthelasma, Clinodactyly of the 5th finger, Hyperactivity, Acute monocytic leukemia... ORPHA:137605
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Atrial septal defect, Ventricular septal defect OMIM:610536
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Aortic valve stenosis, Short stature, Growth delay, Spina bifid... ORPHA:2308
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Conjunctival telangiectasia, T... OMIM:251260
Kabuki Syndrome 1
Postnatal growth retardation, Anoperineal fistula, Highly arched eyebrow, Hirsutism, Premature th... OMIM:147920
Isolated Complex I Deficiency
Increased serum pyruvate, Hypertrophic cardiomyopathy, Optic neuropathy, Ataxia, Lethargy, Optic ... ORPHA:2609
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Hypertension, Osteoporosis OMIM:219090
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Gait disturbance, Ataxia,... OMIM:250100
Mend Syndrome
Hyperactivity, 2-3 toe syndactyly, Abnormal auditory evoked potentials, High palate, Aortic valve... ORPHA:401973
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Highly arched eyebrow, Pulmonary artery atresia, Synophrys, Sparse... OMIM:620568
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm, Branchial anomaly, Type 1 muscle fiber atrophy, Cryptorchidism, Growth delay, Hy... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm, Branchial anomaly, Type 1 muscle fiber atrophy, Cryptorchidism, Growth delay, Hy... ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Patent ductus arteriosus after premature birth, Ventricular septal defect, Knee fle... OMIM:620454
Degcags Syndrome
Premature graying of hair, Hypopigmentation of the skin, Low posterior hairline, Pulmonic stenosi... OMIM:619488
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Osteopenia, Hyperinsulinemia, Reduced bone mineral density, Cubitus valgus, Genu... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Osteopenia, Hyperinsulinemia, Reduced bone mineral density, Cubitus valgus, Genu... ORPHA:99228
Monosomy X
Delayed puberty, Osteopenia, Hyperinsulinemia, Reduced bone mineral density, Cubitus valgus, Genu... ORPHA:99226
Turner Syndrome
Delayed puberty, Osteopenia, Hyperinsulinemia, Reduced bone mineral density, Cubitus valgus, Genu... ORPHA:881
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Dysplastic aortic valve, Cryptorchidism, Bilateral cryptorch... OMIM:602535
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:398079
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Primary hypothyroidism, Severe intrauterine growth retardation, Urethrovagi... OMIM:243800
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Hyperpigmentation of the skin, Cafe-au-lait spot, Atrial septal def... OMIM:610832
Hajdu-Cheney Syndrome
Delayed puberty, Hepatomegaly, Hypospadias, Synophrys, Aortic valve stenosis, Umbilical hernia, S... ORPHA:955
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Wolfram Syndrome 2
Optic atrophy, Depression, Optic neuropathy, Peptic ulcer OMIM:604928
Biotinidase Deficiency
Optic atrophy, Hyperammonemia, Ataxia, Splenomegaly, Lethargy OMIM:253260
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Chromosome 16P13.3 Duplication Syndrome
Facial hypotonia, Hirsutism, Camptodactyly, Cryptorchidism, Synophrys, Tetralogy of Fallot, Low a... OMIM:613458
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis ORPHA:764
Lymphedema-Distichiasis Syndrome
Yellow nails, Distichiasis, Tetralogy of Fallot, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:153400
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormality of the nail, Alopecia, Dia... ORPHA:2092
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Papilledema, Preaxial foot... OMIM:619471
Arima Syndrome
Optic atrophy, Polydipsia, Anemia, Retinal dystrophy, Hypertension, Postaxial hand polydactyly, E... OMIM:243910
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Dysdiadochokinesis,... ORPHA:1435
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Splenomegaly, Umbilical hernia, Intrauterine growth retardation,... ORPHA:567
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, High, narrow palate, Retinal dystroph... OMIM:218330
Cystinosis, Nephropathic
Low-molecular-weight proteinuria, Polyuria, Hematuria, Hypopigmentation of hair, Generalized amin... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Optic atrophy, Talipes, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of... OMIM:210730
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Pigmentary ... OMIM:613154
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Hypospadias, Breast aplasia, Posterior pit... ORPHA:268261
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Tarp Syndrome
Optic atrophy, Rocker bottom foot, Broad-based gait, Finger syndactyly, Glossoptosis, Tongue nodu... ORPHA:2886
Leigh Syndrome
Multiple joint contractures, Hypertrophic cardiomyopathy, Growth delay, Frontal hirsutism, Skelet... ORPHA:506
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Severe intrauterine growth retardation, Short stature, Absent toenail, Atrial septal defect, Vent... OMIM:620663
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Clitoral hypertrophy, Atrioventricular canal defect, Rhizomelia,... ORPHA:818
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Nail dysplasia, Hepatomegaly, Hypospadias, Hypoplasia of penis, ... ORPHA:373
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Conjunctival telangiectasia, Acute lymphoblastic leu... OMIM:208900
Pallister-Hall Syndrome
Nail dysplasia, Thyroid hypoplasia, Umbilical hernia, Small scrotum, Intrauterine growth retardat... ORPHA:672
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc p... OMIM:268315
Brachytelephalangic Chondrodysplasia Punctata
Postnatal growth retardation, Proportionate short stature, Pulmonary artery stenosis, Patent duct... ORPHA:79345
Goldberg-Shprintzen Syndrome
Limb hypertonia, Highly arched eyebrow, Synophrys, Thick eyebrow, Sparse hair, Ventricular septal... OMIM:609460
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tibial bowing, Femoral ... ORPHA:140
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Hypoplastic aortic arch, Pat... OMIM:157800
Liver Disease, Severe Congenital
Left atrial enlargement, Nail dystrophy, Hypoproteinemia, Biliary hyperplasia, Splenomegaly, Umbi... OMIM:619991
Weill-Marchesani Syndrome 1
Proportionate short stature, Pulmonic stenosis, Aortic valve stenosis, Short stature, Patent duct... OMIM:277600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
High anterior hairline, Abnormality of the endocrine system, Increased circulating prolactin conc... ORPHA:438213
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Hardikar Syndrome
Hematemesis, Gastric varix, Irritability, Cleft soft palate, Hyperbilirubinemia, Bilateral cleft ... OMIM:301068
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Coarctation of aorta, Ventricular septal defect, Hypoplastic toe... ORPHA:268249
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormality of hair texture, Vesicou... ORPHA:96169
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Genu valgum, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia, L... OMIM:619321
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Clitoral hypertrophy, Aplasia of the uterus, Umbilical hernia, I... OMIM:135900
Esophageal Atresia
Maternal diabetes, Abnormal external genitalia, Growth delay, Coarctation of aorta, Tetralogy of ... ORPHA:1199
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Pilomatrixoma, Cryptorchidism, Pulmonic stenosis, Aortic valve stenosis, Short statu... ORPHA:353281
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, Split hand, Rudimentary to absen... OMIM:200980
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hyperoxaluria, Rod-cone dystrophy, Epiphyseal stippling OMIM:601539
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Unicornuate uterus, Few cafe-au-lait spots, Decreased ... OMIM:619503
Apert Syndrome
Rhizomelic arm shortening, Cryptorchidism, Vaginal atresia, Overriding aorta, Ventricular septal ... OMIM:101200
Phelan-Mcdermid Syndrome
Toenail dysplasia, Patent ductus arteriosus, Long eyelashes, Thick eyebrow, Hypoplastic toenails,... OMIM:606232
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Median cleft palate, Aplasia/Hypoplasia of the tibia, Preaxial foot polydact... ORPHA:1827
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Vascular dilatation, Spina bifida occulta, Facial palsy, Upper limb muscle... OMIM:607323
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Femoral-Facial Syndrome
Maternal diabetes, Encephalocele, Truncus arteriosus, Cryptorchidism, Pulmonic stenosis, Short st... OMIM:134780
Cornelia De Lange Syndrome
Delayed puberty, Congenital diaphragmatic hernia, Hypoplasia of penis, Highly arched eyebrow, Low... ORPHA:199
Alzheimer Disease 4
Neurofibrillary tangles OMIM:606889
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Alzheimer Disease 3
Neurofibrillary tangles OMIM:607822
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Tibial Hemimelia
Absent tibia OMIM:275220
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperfora... OMIM:181450
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Patent ductus arteriosus, Elbow flexion contracture, Proportionate sh... OMIM:608328
Digeorge Syndrome
Right aortic arch with mirror image branching, Cholelithiasis, Interrupted aortic arch, Truncus a... OMIM:188400
Yunis-Varon Syndrome
Postnatal growth retardation, Clitoral hypertrophy, Hypospadias, Cardiomyopathy, Sparse scalp hai... ORPHA:3472
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Ventricular septal defect, Thick eyebrow, Widow's peak OMIM:619229
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Myelomeningocele, Spina bifida, Short stature, Intrauterine growth ... ORPHA:1393
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Mowat-Wilson Syndrome
Hypospadias, Broad eyebrow, Bifid scrotum, Cryptorchidism, Pulmonic stenosis, Short stature, Gene... OMIM:235730
Leber Congenital Amaurosis 15
Eye poking, Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retin... OMIM:613843
Frank-Ter Haar Syndrome
Patent foramen ovale, Camptodactyly, Growth delay, Cafe-au-lait spot, Secundum atrial septal defe... OMIM:249420
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Anal stenosis, Flexion contracture of toe, Clinodactyly of t... OMIM:300373
Arboleda-Tham Syndrome
Lower limb amyotrophy, Highly arched eyebrow, Bilateral cryptorchidism, Pulmonic stenosis, Growth... OMIM:616268
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Hypoplastic toenails, Cleft anterior mitral valve leaflet, Pulmonary a... OMIM:616462
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Niemann-Pick Disease, Type C1
Hepatomegaly, Foam cells, Bone-marrow foam cells, CNS foam cells, Splenomegaly, Neurofibrillary t... OMIM:257220
Okamoto Syndrome
Abnormal left ventricle morphology, Severe postnatal growth retardation, Primum atrial septal def... ORPHA:2729
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, B lymphocytopenia, Coronal craniosynostosis, Severe B lymphocytopenia, ... ORPHA:83617
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect, Ectopic anterior pituitary gland, Patent ductus ... OMIM:620558
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Highly arched eyebrow, Hirsutism, Camptodactyly, Synophrys, Grow... OMIM:301044
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Abnormal temper tantrums, Pes cavus, Anemia, Pancytopenia, Broad-based gait, Spontan... ORPHA:2072
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Bicornuate uterus, Short stature, Tetralogy of Fallot, Sparse lo... OMIM:154400
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus OMIM:151660
Zttk Syndrome
Broad eyebrow, Curly hair, Short stature, Growth delay, Sparse eyebrow, Flexion contracture, Pate... OMIM:617140
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Tendon xanthomatosis, Premature arteriosclerosis, Premature coronary ... ORPHA:391665
Brittle Cornea Syndrome
Pulmonic stenosis, Camptodactyly, Mitral valve prolapse, Abnormality of hair pigmentation ORPHA:90354
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Costello Syndrome
Rhabdomyosarcoma, Lymphangiectasis, Thin nail, Hyperpigmentation of the skin, Hypertrophic cardio... OMIM:218040
Norrie Disease
Optic atrophy, Retinal dysplasia, Retinal detachment, Retinal fold, Aggressive behavior OMIM:310600
Orofaciodigital Syndrome Type 4
High, narrow palate, Rectovaginal fistula, Finger syndactyly, Perineal fistula, Postaxial hand po... ORPHA:2753
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Trichiasis, Abnormal subclavian artery morphology, Hypospadias, Hig... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Trichiasis, Abnormal subclavian artery morphology, Hypospadias, Hig... ORPHA:353277
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Osteopenia, Hyperinsulinemia, Pho... ORPHA:79318
Vater/Vacterl Association
Postnatal growth retardation, Occipital encephalocele, Transposition of the great arteries, Paten... OMIM:192350
Turcot Syndrome With Polyposis
Intestinal polyposis, Melena, Adenomatous colonic polyposis, Hyperpigmentation of the fundus, Epi... ORPHA:99818
Baller-Gerold Syndrome
Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Short humerus, Absent thumb, Bifid uvu... OMIM:218600
Williams Syndrome
Abnormal circulating lipid concentration, Hypertension, Cerebral ischemia, Tracheoesophageal fist... ORPHA:904
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles OMIM:616840
Early Infantile Epileptic Encephalopathy
Precocious puberty, Umbilical hernia, Absent thumbnail, Ventricular septal defect, Micropenis ORPHA:1934
Chromosome 1P36 Deletion Syndrome, Distal
Abnormality of the hairline, Bicuspid aortic valve, Hypospadias, Patent foramen ovale, Camptodact... OMIM:607872
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoglycemia, Hypoinsulinemia, Recurrent hypoglycemia ORPHA:2126
Wolf-Hirschhorn Syndrome
Hypospadias, Hyperconvex fingernails, Severe postnatal growth retardation, Highly arched eyebrow,... OMIM:194190
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:398069
Penile Agenesis
Maternal diabetes, Cryptorchidism, Absent penis, Ambiguous genitalia, Atrial septal defect, Ventr... ORPHA:49
Kinsship Syndrome
Osteopenia, Polydactyly, Fibular hypoplasia, Gastroesophageal reflux, Dislocated radial head, Ank... OMIM:619297
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Flexion contracture OMIM:619306
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypoplastic toenails, Hypospadias, Imperforate hymen, Hematocolpos, Cryptorchidism, Short stature... OMIM:619522
Roberts-Sc Phocomelia Syndrome
Postnatal growth retardation, Stillbirth, Clitoral hypertrophy, Enlarged labia minora, Ankle flex... OMIM:268300
Prolidase Deficiency
Hirsutism, Recurrent cystitis, White forelock, Abnormal fingernail morphology, Abnormality of ret... ORPHA:742
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Labial hypoplasia, Sparse scalp hair, Cryptorchidism... OMIM:606170
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:98754
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Tetralogy of Fallot, Sparse hair, F... ORPHA:3474
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Ascendi... ORPHA:141127
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Patent ductus a... OMIM:164280
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Niemann-Pick Disease, Type C2
Hepatomegaly, Foam cells, Bone-marrow foam cells, CNS foam cells, Splenomegaly, Neurofibrillary t... OMIM:607625
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles OMIM:117300
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Short ribs, Retinopathy, Ataxia, Splenomegaly, Dysphagia OMIM:615636
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:98793
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal hypertrophy, Small nail, Synophrys, Cafe-au-lait spot, Thin eyebrow, Intrauter... OMIM:608670
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Short umbilical cord, Anencephaly, Encephalocele... ORPHA:2369
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:177904
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ureteral stenosis, Iris hypopigmentation, Cryptorchidism, Abnormality o... ORPHA:2719
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Normocytic anemia, Reduced hematocrit, Choroidal neovascularization, Elevated circulati... ORPHA:91500
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Increased circulating renin level, Central hypothyroidism... ORPHA:508
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... ORPHA:79430
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:177901
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly... OMIM:312870
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Growth delay, Primary amenorrhea, Splenomegaly, Weakness of facial musculature, Ven... OMIM:619418
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Diaphyseal dysplasia, Optic nerve compression, Optic neuropathy, Broad ischia, Bro... OMIM:619727
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Neurofibrillary tangles ORPHA:1020
Prader-Willi Syndrome
External genital hypoplasia, Premature pubarche, Hypopigmentation of hair, Hypoplastic labia mino... ORPHA:739
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormal emotion, Difficulty walking, Anemia, Abnormal hip bone morphology, Nail-biting, Hyperact... ORPHA:642
Williams-Beuren Syndrome
Premature graying of hair, Small nail, Pulmonic stenosis, Early onset of sexual maturation, Mitra... OMIM:194050
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Alagille Syndrome 1
Stroke, Renal artery stenosis, Papillary thyroid carcinoma, Coarctation of aorta, Tetralogy of Fa... OMIM:118450
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Spina bifida occulta, Abnormal right ventricle morphology, Camptodactyly, Mitral... ORPHA:500095
Orofaciodigital Syndrome Xiv
Epispadias, Occipital encephalocele, Cryptorchidism, Patent ductus arteriosus, Atrial septal defe... OMIM:615948
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant melanosomes in me... OMIM:214500
Peters-Plus Syndrome
Bilobate gallbladder, Postnatal growth retardation, Rhizomelia, Hypospadias, Disproportionate sho... OMIM:261540
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Splenomegaly, Diabetes insipidus, Patent foramen ovale, Primum a... OMIM:619534
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... OMIM:301043
Lesch-Nyhan Syndrome
Short stature, Testicular atrophy OMIM:300322
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Aplasia of the uterus, Hypopigmentation of the skin, Aortic valv... OMIM:601803
African Trypanosomiasis
Myocarditis, Congestive heart failure, Irritability, Akinesia, Aggressive behavior, Difficulty wa... ORPHA:3385
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Hypospadias, Torticollis, Broad eyebrow, Aortic aneurysm, Bifid scrotum, Hypopig... OMIM:619475
Orofaciodigital Syndrome Type 14
Epispadias, Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus ORPHA:434179
Sotos Syndrome
Decreased fertility, Ankle flexion contracture, Hypospadias, Small nail, Hyperpigmentation of the... ORPHA:821
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Mitral valve prolapse, Macroglossia OMIM:617107
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles OMIM:607485
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Right aortic arch, Sparse lateral eyebrow, Ventricular septal defec... ORPHA:513456
Gerstmann-Straussler Disease
Neurofibrillary tangles OMIM:137440
Retinitis Pigmentosa 74
Polydactyly, Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Cryptorchidism, Hypothyr... OMIM:107480
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Pos... OMIM:304120
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Rhizomelia, Highly arched eyebrow, Ventricular hypertrophy, Tricuspid stenosis, Pulmonic stenosis... OMIM:143095
Pseudoleprechaunism Syndrome, Patterson Type
Hirsutism, Premature adrenarche, Generalized bronze hyperpigmentation, Increased circulating andr... ORPHA:2976
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Sparse scalp hair, Short nail, Severe short stature, Flexion contracture, Bicuspid aortic valve, ... OMIM:271640
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Shawl scrotum, Coarse hair, Widow's peak ORPHA:1974
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short s... ORPHA:363700
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Proboscis Lateralis
External genital hypoplasia, Abnormal eyebrow morphology, Abnormal location of the eyebrow, Paten... ORPHA:141099
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Bile duct proliferation, Tetralogy of Fallot, Splenomegaly, Type I diabetes mellitu... OMIM:619525
Cerebrocostomandibular Syndrome
Postnatal growth retardation, Elbow flexion contracture, Patent ductus arteriosus, Atrial septal ... OMIM:117650
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Keutel Syndrome
Pulmonic stenosis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Pulmonary art... OMIM:245150
Yunis-Varon Syndrome
Hypospadias, Patent foramen ovale, Hypoplastic nipples, Cardiomyopathy, Absent nipple, Sparse sca... OMIM:216340
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Highly arched eyebrow, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mo... ORPHA:261552
Adult-Onset Dystonia-Parkinsonism
Hypomimic face, Abnormal circulating creatine kinase concentration, Neurofibrillary tangles ORPHA:199351
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Ventricular septal defect, Few cafe-au-lait spots, Umbilical hernia OMIM:620330
Osteoporosis-Pseudoglioma Syndrome
Short stature, Ventricular septal defect OMIM:259770
Prolidase Deficiency
Hyperimidodipeptiduria, Facial hirsutism, Low posterior hairline OMIM:170100
Menkes Disease
Woolly hair, Hypopigmentation of hair, Bladder diverticulum, Sparse hair ORPHA:565
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles OMIM:609454
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles OMIM:601104
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Right aortic arch, Coarctation of aorta, Tetralogy of... OMIM:164210

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 Pepd

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 Pepd.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Defective extracellular matrix remodeling in brown adipose tissue is associated with fibro-inflammation and reduced diet-induced thermogenesis. Cell reports (June 2023) Pepdtm1a(KOMP)Wtsi 37318951
Prolidase Deficiency Causes Spontaneous T Cell Activation and Lupus-like Autoimmunity. Journal of immunology (Baltimore, Md. : 1950) (March 2023) Pepdtm1a(KOMP)Wtsi PMC9946897
Dysregulation of macrophage PEPD in obesity determines adipose tissue fibro-inflammation and insulin resistance. Nature metabolism (April 2022) Pepdtm1a(KOMP)Wtsi 35478031
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pepdtm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Pepdtm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pepdtm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pepdtm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pepdtm1a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Pepdtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pepdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pepdtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pepdtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pepdtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter