Preferred Name |
ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2 |
Synonyms |
WRINKLY SKIN SYNDROME |
ID |
http://purl.bioontology.org/ontology/OMIM/611716 |
altLabel |
WRINKLY SKIN SYNDROME CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA ATP6V0A2 A2V-ATPase |
cui |
C1425544 C0406587 C0268355 |
Gene Locus |
12q24.3 |
Gene Symbol |
WSS ATP6V0A2 ARCL2A |
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/611716.0005 http://purl.bioontology.org/ontology/OMIM/611716.0003 http://purl.bioontology.org/ontology/OMIM/611716.0001 |
MIMTYPEMEANING |
Gene with known sequence |
notation |
611716 |
OMIM Entry Type |
1 |
OMIM MimType Value |
star |
prefLabel |
ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2 |
tui |
T028 T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C562632 | Medical Subject Headings / 医学主题词表 | CUI | |
http://purl.bioontology.org/ontology/MESH/C536750 | Medical Subject Headings / 医学主题词表 | CUI |