Gene Summary

Name:
HECT domain E3 ubiquitin protein ligase 1
Synonyms:
b2b327Clo,  A630086P08Rik,  opm

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased basophil cell number Hectd1tm1b(EUCOMM)Hmgu HET Early adult 3.21×10-40
increased circulating calcium level Hectd1tm1b(EUCOMM)Hmgu HET Early adult 5.15×10-10
abnormal coat/hair pigmentation Hectd1tm1b(EUCOMM)Hmgu HET Early adult 8.76×10-05
decreased circulating alkaline phosphatase level Hectd1tm1b(EUCOMM)Hmgu HET Early adult 5.75×10-05
increased eosinophil cell number Hectd1tm1b(EUCOMM)Hmgu HET Early adult 8.38×10-21

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hectd1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hectd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia, Hyperpigmented streaks OMIM:614323
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic... ORPHA:1457
Immunodeficiency 88
Eosinophilia OMIM:619630
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Atrial Septal Defect 4
Atrial septal defect, Coarctation of aorta, Patent foramen ovale OMIM:611363
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... OMIM:619343
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis, Spotty hyperpigmentation ORPHA:157991
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm,... OMIM:132900
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Pulmonic stenosis, Peripheral arterial stenosis OMIM:185500
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Arteria lusoria, Hypoplasia of right ventricle, Left aortic arch with ce... OMIM:212093
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle,... OMIM:617912
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Aortic aneurysm, Patent foramen ovale, Abnormal heart morphology, Persiste... ORPHA:477817
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio... OMIM:610338
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Ventricular septal defect, Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Peeling Skin Syndrome 1
Eosinophilia, Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Griscelli Syndrome, Type 2
Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ... OMIM:607624
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Abnormal aortic arch morpholog... ORPHA:860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620024
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Mitral valve prolapse, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Kimura Disease
Eosinophilia ORPHA:482
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop... OMIM:115197
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Immunodeficiency 7
Autoimmune hemolytic anemia, Patchy alopecia, Splenomegaly, Vitiligo, Hypereosinophilia, Neutropenia OMIM:615387
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:2123
Aortic Valve Disease 1
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral... OMIM:109730
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ascending aortic d... OMIM:619825
Grange Syndrome
Carotid artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis OMIM:602531
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Cinca Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenomegaly, ... OMIM:607115
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Atrial septal defect, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly, Alopecia ORPHA:100025
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Wells Syndrome
Eosinophilia ORPHA:901
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Thin eyebrow OMIM:618092
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Ventricular septal defect, Abnormal aortic morphology, Tetra... ORPHA:1166
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology ORPHA:1923
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,... ORPHA:216694
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T... ORPHA:169154
Pyknoachondrogenesis
Stillbirth OMIM:265880
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Transketolase Deficiency
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... ORPHA:488618
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Abnormal heart morp... ORPHA:363444
Mass Syndrome
Ascending aortic dissection, Mitral valve prolapse, Aortic aneurysm OMIM:604308
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
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
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Transient isc... ORPHA:1330
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:69077
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
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
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Ascending tubular aorta aneu... ORPHA:3092
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic root aneurysm, Pulmonic stenosis, Mitral valve prolapse, Persisten... OMIM:609008
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... ORPHA:402075
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo... ORPHA:210122
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hirsutism, Hepatosplenomegaly, Splenomegaly, Hypercholesterol... OMIM:612526
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Transaldolase Deficiency
Atrial septal defect, Coarctation of aorta, Biventricular hypertrophy ORPHA:101028
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Alopecia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemo... OMIM:304790
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, T lymphocytopenia, Decreas... OMIM:617237
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, Pa... OMIM:615382
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Omenn Syndrome
Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Aplasia/Hypoplasia of the eye... ORPHA:39041
Griscelli Syndrome Type 2
Premature graying of hair, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Hyperlipidem... ORPHA:79477
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Car... ORPHA:91387
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Abnormality of the frontal hairline ORPHA:557003
Pheochromocytoma--Islet Cell Tumor Syndrome
Cafe-au-lait spot, Hypercalcemia, Axillary freckling OMIM:171420
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Netherton Syndrome
Brittle hair, Sparse scalp hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia OMIM:256500
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Restrictive cardiomyopathy, Right atrial enlargement, Aortic aneu... OMIM:612422
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Infantile Myofibromatosis
Irregular hyperpigmentation, Hypercalcemia, Abnormal hair morphology ORPHA:2591
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Hepatosplenomegaly, Hyperconvex nail ORPHA:353298
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic val... OMIM:620067
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:2868
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... ORPHA:391641
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess, Alopecia OMIM:618282
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis OMIM:615812
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Ventricular septal defect, Patent duct... ORPHA:392
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Splenomegaly OMIM:616651
Oculoskeletodental Syndrome
Hypocalcemia, Low posterior hairline, Hypercalcemia, Low anterior hairline, Splenomegaly OMIM:618440
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Hypotelorism, Optic nerve hypoplasia OMIM:218670
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Vitiligo, Eosin... ORPHA:199299
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Gombo Syndrome
Microphthalmia OMIM:233270
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... OMIM:117550
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... ORPHA:3426
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Patent... OMIM:158170
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Joubert Syndrome 15
Exencephaly OMIM:614464
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Coarctation of aorta, Patent duc... ORPHA:1120
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Alopecia of scalp, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormall... OMIM:602450
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Elevated circulating C-reactive pro... OMIM:617388
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality... ORPHA:1926
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Anemia, Hypokalemia, Hyperpigmentation of the skin, Hypocalcemia,... OMIM:175500
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... ORPHA:2306
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Dysplastic pulmonary valve, Mitral valve prolapse... OMIM:612863
Hypophosphatasia, Infantile
Hypercalcemia, Anemia, Elevated plasma pyrophosphate OMIM:241500
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Sparse hair, Eosinophilia, Coars... OMIM:158310
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology ORPHA:1164
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Acute Generalized Exanthematous Pustulosis
Hyperpigmentation of the skin, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Meacham Syndrome
Bicuspid aortic valve, Transposition of the great arteries, Partial anomalous pulmonary venous re... OMIM:608978
Hyperparathyroidism, Neonatal Severe
Calcinosis, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Chromosome 18Q Deletion Syndrome
Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Dys... OMIM:601808
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Acute Adrenal Insufficiency
Hyperkalemia, Normocytic anemia, Hyperpigmentation of the skin, Hyperuricemia, Increased circulat... ORPHA:95409
Coronary Arterial Fistula
Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o... ORPHA:2041
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Monosomy 18Q
Pulmonary valve defects, Aortic aneurysm, Dysplastic pulmonary valve, Absence of the pulmonary va... ORPHA:1600
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia OMIM:616570
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
2P21 Microdeletion Syndrome
Hypocalcemia, Long eyelashes ORPHA:163693
Phaver Syndrome
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic aortic arch ORPHA:2876
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Ectopia Lentis 1, Isolated, Autosomal Dominant
Aortic root aneurysm, Mitral valve prolapse OMIM:129600
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor... ORPHA:289601
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Coar... ORPHA:508498
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Griscelli Syndrome Type 1
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Partial albinism ORPHA:79476
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia, Dystrophic fingernails, Paronychia, Abnormal hair morphology ORPHA:2314
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Sarcosinemia
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Bicuspid aortic valve, Pulmonic stenosis OMIM:616201
Alagille Syndrome 2
Pulmonic stenosis, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:610205
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microphthalmia, Proptosis OMIM:616171
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Anemia, Hypocalcemia, Alopecia, Thrombocytopenia, Recurrent cutaneous... ORPHA:47
Tangier Disease
Carotid artery stenosis, Coronary artery stenosis, Left ventricular hypertrophy, Accelerated athe... ORPHA:31150
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery atherosclerosis, Renal artery atherosclerosis, Cardiomyopathy, Coronary artery st... ORPHA:565612
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect OMIM:614300
Hoxha-Aliu Syndrome
Atrial septal defect, Perimembranous ventricular septal defect OMIM:620662
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Episodic hemolytic anemia ORPHA:251004
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Patent fo... OMIM:265380
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Micrognathia, Microphthalmia OMIM:619339
Noonan Syndrome 8
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypert... OMIM:615355
Hartsfield Syndrome
Lobar holoprosencephaly, Microphthalmia, Hypertelorism, Encephalocele ORPHA:2117
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventr... OMIM:616652
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microphthalmia ORPHA:2528
Alg12-Cdg
Biventricular hypertrophy, Patent foramen ovale, Muscular ventricular septal defect, Patent ductu... ORPHA:79324
Metachondromatosis
Pulmonic stenosis OMIM:156250
Polyvalvular Heart Disease Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Aortic valve stenosis, Mitral valve prolapse ORPHA:228410
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Abnormality of the nail, Hypocalcemia, Leu... ORPHA:247353
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Dysplastic tri... OMIM:157800
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Hypocalcemia ORPHA:89937
Tetrasomy 15Q26
Atrial septal defect, Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Incontinentia Pigmenti
Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplastic fingernail, Abnormal hair mo... ORPHA:464
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Microphthalmia ORPHA:324416
Cap Myopathy
Aortic root aneurysm, Mitral valve prolapse ORPHA:171881
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Atrioventricular canal defect, Double inlet left ventr... OMIM:270100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Addison Disease
Hyperkalemia, Normocytic anemia, Hyperpigmentation of the skin, Hyperuricemia, Increased circulat... ORPHA:85138
Mmep Syndrome
Mandibular prognathia, Microphthalmia ORPHA:3434
Mullegama-Klein-Martinez Syndrome
Apical muscular ventricular septal defect, Coarctation of aorta, Hypoplastic left heart OMIM:301022
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Restrictive cardiomyopathy OMIM:619433
Nanophthalmos
Microphthalmia ORPHA:35612
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules OMIM:614072
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Abnormal circulating lipid concentration, ... ORPHA:381
Frontonasal Dysplasia 1
Microphthalmia, Anterior basal encephalocele, Hypoplasia of the maxilla, Cranium bifidum occultum... OMIM:136760
Cystic Echinococcosis
Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Eosinophilia, Abscess ORPHA:400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch OMIM:620511
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Aortic Arch Interruption
Bicuspid aortic valve, Transposition of the great arteries, Aortic valve atresia, Aortopulmonary ... ORPHA:2299
Lmna-Related Cardiocutaneous Progeria Syndrome
Coronary artery atherosclerosis, Aortic root aneurysm, Ventricular hypertrophy, Mitral valve calc... ORPHA:363618
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
8P23.1 Microdeletion Syndrome
Transposition of the great arteries, Atrioventricular canal defect, Abnormal aortic morphology, H... ORPHA:251071
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... OMIM:600460
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:608779
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Arterial Calcification, Generalized, Of Infancy, 1
Renal artery stenosis, Generalized arterial calcification, Carotid artery calcification, Arterial... OMIM:208000
2Q24 Microdeletion Syndrome
Microphthalmia, Hypertelorism ORPHA:1617
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Methionine Malabsorption Syndrome
Blue irides, Positive ferric chloride test, White hair OMIM:250900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Otosclerosis 8
Otosclerosis OMIM:612096
Multiple Myeloma
Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration ORPHA:29073
Otosclerosis 3
Otosclerosis OMIM:608244
Monosomy 13Q34
Horizontal eyebrow, Hypercalcemia ORPHA:96168
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v... OMIM:618494
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Noonan Syndrome 10
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, M... OMIM:616564
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... OMIM:243700
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Microphthalmia, Anophthalmia OMIM:615524
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Micrognathia, Hypertelorism, Microphthalmia OMIM:619135
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosity, A... OMIM:614816
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr... OMIM:121050
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect ORPHA:96129
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Pheochromocytoma
Cafe-au-lait spot, Hypercalcemia OMIM:171300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Micrognathia, Hypertelorism, Microphthalmia ORPHA:163649
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Congenital Aortic Valve Stenosis
Aortic valve atresia, Dysplastic aortic valve, Aortic valve stenosis, Left ventricular hypertroph... ORPHA:3093
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hydrolethalus
Retrognathia, Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Micrognathia, Deeply set eye ORPHA:2189
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Cardiomegaly, Abnormal hea... ORPHA:363705
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
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Nanophthalmos 4
Microphthalmia OMIM:615972
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Holt-Oram Syndrome
Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal... OMIM:142900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Mitral valve prol... OMIM:175050
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aorti... OMIM:615415
Autosomal Recessive Kenny-Caffey Syndrome