Abnormality of the aortic valve

Symptom Information:

Symptom ID: HPO:0001646
Aortic valve anomaly [Orphanet:34120]
Congenital anomaly of aortic valve (disorder) [Orphanet:34120]
Congenital anomaly of aortic valve [Orphanet:34120]
Aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid [Orphanet:34120]
Cross references:
Orphanet:34120 "Aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid" [Orphanet:34120]
UMLS:C0265841 "Congenital anomaly of aortic valve" [Orphanet:34120]
Is a (Direct Parents):
Orphanet Abnormality of the heart valves
HPO         Abnormality of the heart valves
Is a (Whole tree): HPO:
    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)
Database Frequency: 55 / 7739

All diseases associated with this symptom:

19p13.12 microdeletion syndrome (Orphanet:254346)
22q11.2 deletion syndrome (Orphanet:567)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
Acroosteolysis, dominant type (Orphanet:955)
Alkaptonuria (Orphanet:56)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Antisynthetase syndrome (Orphanet:81)
Autosomal dominant cutis laxa (Orphanet:90348)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Beh├žet disease (Orphanet:117)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Chronic atrial and intestinal dysrhythmia syndrome (Orphanet:435988)
Coffin-Lowry syndrome (Orphanet:192)
Cogan syndrome (Orphanet:1467)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Criss-cross heart (Orphanet:1461)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Ehlers-Danlos syndrome with periventricular heterotopia (Orphanet:82004)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Erdheim-Chester disease (Orphanet:35687)
Fabry disease (Orphanet:324)
Fanconi anemia (Orphanet:84)
Gaucher disease (Orphanet:355)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Gaucher disease type 3 (Orphanet:77261)
Geleophysic dysplasia (Orphanet:2623)
Grange syndrome (Orphanet:79094)
Hurler syndrome (Orphanet:93473)
Jacobsen syndrome (Orphanet:2308)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Koolen-De Vries syndrome (Orphanet:96169)
Linear verrucous nevus syndrome (Orphanet:2611)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Marfan syndrome (Orphanet:558)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mucolipidosis type 3 (Orphanet:577)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Neutral lipid storage disease (Orphanet:165)
Okamoto syndrome (Orphanet:2729)
Polyvalvular heart disease syndrome (Orphanet:228410)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Reactive arthritis (Orphanet:29207)
Relapsing polychondritis (Orphanet:728)
Rheumatic fever (Orphanet:3099)
Scheie syndrome (Orphanet:93474)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Syndactyly - telecanthus - anogenital and renal malformations (Orphanet:140952)
Takayasu arteritis (Orphanet:3287)
Weill-Marchesani syndrome (Orphanet:3449)
Williams syndrome (Orphanet:904)