Bicuspid aortic valve
Symptom Information:
Symptom ID: | HPO:0001647 | |||||||||
Synonyms: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the cardiovascular system(HPO:0001626) Abnormal heart morphology(HPO:0001627) obsolete Malformation of the heart and great vessels(HPO:0002564) Abnormality of the heart valves(HPO:0001654) Abnormality of the aortic valve(HPO:0001646) Bicuspid aortic valve(HPO:0001647) MedDRA: Congenital, familial and genetic disorders(MedDRA:10010331) Cardiac and vascular disorders congenital(MedDRA:10007510) Cardiac valve disorders congenital(MedDRA:10007614) Bicuspid aortic valve(HPO:0001647) |
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Database Frequency: | 34 / 7739 | |||||||||
Resource: |
All diseases associated with this symptom:
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
1p36 deletion syndrome | (Orphanet:1606) |
AORTIC ANEURYSM, FAMILIAL THORACIC 4 | (OMIM:132900) |
AORTIC VALVE DISEASE 1 | (OMIM:109730) |
AORTIC VALVE DISEASE 2 | (OMIM:614823) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
Baraitser-Winter syndrome | (Orphanet:2995) |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 | (OMIM:614980) |
Cardiomyopathy, dilated, 1S | (OMIM:613426) |
Chronic atrial and intestinal dysrhythmia syndrome | (Orphanet:435988) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
DIAMOND-BLACKFAN ANEMIA 11 | (OMIM:614900) |
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT | (OMIM:300049) |
HUNTER-MACDONALD SYNDROME | (OMIM:611962) |
Hypertrichotic osteochondrodysplasia, Cantu type | (Orphanet:1517) |
Joubert syndrome 28 | (OMIM:617121) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LOEYS-DIETZ SYNDROME 1 | (OMIM:609192) |
LOEYS-DIETZ SYNDROME 2 | (OMIM:610168) |
LOEYS-DIETZ SYNDROME 4 | (OMIM:614816) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | (OMIM:615599) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Nodular neuronal heterotopia | (Orphanet:2149) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM | (OMIM:614501) |
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies | (Orphanet:228190) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Williams syndrome | (Orphanet:904) |