Subaortic stenosis

Symptom Information:

Symptom ID: HPO:0001682
Synonyms:
Subvalvular aortic stenosis [HPO:0001682]
Aortic supravalvular stenosis [Orphanet:34140]
Supravalvar aortic stenosis (disorder) [Orphanet:34140]
Congenital supravalvular aortic stenosis (disorder) [Orphanet:34140]
Congenital supravalvular aortic stenosis [Orphanet:34140]
Supravalvular aortic stenosis [Orphanet:34140]
Subaortic stenosis [OMIM:Subaortic stenosis]
Subvalvular aortic stenosis [OMIM:Subvalvular aortic stenosis]
Aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis [Orphanet:34140]
Supravalvular aortic stenosis [MedDRA:10042598]
Subvalvular aortic stenosis (1 patient) [OMIM:Subvalvular aortic stenosis (1 patient)]
Subvalvular aortic stenosis (rare) [OMIM:Subvalvular aortic stenosis (rare)]
Supravalvar aortic stenosis [OMIM:Supravalvar aortic stenosis]
Subvalvular aortic stenosis [MedDRA:10042431]
Quality:
Cross references:
HPO:0004381 "Supravalvular aortic stenosis" [Orphanet:34140]
Orphanet:34140 "Aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis" [Orphanet:34140]
OMIM: "Subaortic stenosis" [OMIM:Subaortic stenosis]
OMIM: "Subvalvular aortic stenosis" [OMIM:Subvalvular aortic stenosis]
OMIM: "Subvalvular aortic stenosis (1 patient)" [OMIM:Subvalvular aortic stenosis (1 patient)]
OMIM: "Subvalvular aortic stenosis (rare)" [OMIM:Subvalvular aortic stenosis (rare)]
OMIM: "Supravalvar aortic stenosis" [OMIM:Supravalvar aortic stenosis]
UMLS:C1305147 "Congenital supravalvular aortic stenosis" [Orphanet:34140]
UMLS:C0003499 "Supravalvular aortic stenosis" [Orphanet:34140]
Is a (Direct Parents):
Orphanet Aortic valve stenosis
Orphanet Abnormality of the heart valves
MedDRA Aortic valvular disorders
HPO         Abnormality of the left ventricular outflow tract
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 cardiac ventricle(HPO:0001713)
                   Abnormality of the left ventricle(HPO:0001711)
                      Abnormality of the left ventricular outflow tract(HPO:0011103)
                         Subaortic stenosis(HPO:0001682)
MedDRA:
Cardiac disorders(MedDRA:10007541)
    Cardiac valve disorders(MedDRA:10046973)
       Aortic valvular disorders(MedDRA:10002911)
          Subaortic stenosis(HPO:0001682)
Database Frequency: 17 / 7739
Resource:

All diseases associated with this symptom:

2q37 microdeletion syndrome (Orphanet:1001)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
Atrial septal defect - atrioventricular conduction defects syndrome (Orphanet:1479)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cardiomyopathy, familial hypertrophic, 1 (OMIM:192600)
Discrete fixed membranous subaortic stenosis (Orphanet:99051)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Familial isolated hypertrophic cardiomyopathy (Orphanet:155)
Fixed subaortic stenosis (Orphanet:3092)
Heart defect - tongue hamartoma - polysyndactyly (Orphanet:1338)
LEOPARD SYNDROME 1 (OMIM:151100)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Noonan syndrome with multiple lentigines (Orphanet:500)
Singleton-Merten dysplasia (Orphanet:85191)
Subaortic stenosis - short stature (Orphanet:3191)
Supravalvular aortic stenosis (Orphanet:3193)