Preferred Name |
SUPRAVALVULAR AORTIC STENOSIS |
Synonyms |
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE |
ID |
http://purl.bioontology.org/ontology/OMIM/185500 |
altLabel |
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE SVAS |
cui |
C0003499 C2936909 |
Gene Locus |
7q11.2 |
Gene Symbol |
ADCL1 SVAS ELN |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
185500 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
SUPRAVALVULAR AORTIC STENOSIS |
tui |
T047 |