JSON

autosomal recessive cutis laxa type 2A

^ http://purl.obolibrary.org/obo/MONDO_0018163

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. [ DOID:0070134 ]

Term info

database cross reference
  • DOID:0070134 (MONDO:equivalentTo)
  • OMIM:219200 (Orphanet:357058/btnt)
  • GARD:0001638 (MONDO:equivalentTo)
  • Orphanet:357058 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
ARCL2A [ OMIM:219200 DOID:0070134 Orphanet:357058 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5048, https://github.com/monarch-initiative/mondo/issues/4948

definition

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

exactMatch

http://purl.obolibrary.org/obo/DOID_0070134, http://purl.obolibrary.org/obo/Orphanet_357058, https://omim.org/entry/219200

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0018292, http://purl.obolibrary.org/obo/MONDO_0017752, http://purl.obolibrary.org/obo/MONDO_0019058, http://purl.obolibrary.org/obo/MONDO_0005066, http://purl.obolibrary.org/obo/MONDO_0015286

has exact synonym

cutis laxa with Joint laxity and retarded development, autosomal recessive cutis laxa type IIA, cutis laxa, debre type, cutis laxa with growth and developmental delay, cutis laxa, autosomal recessive, type 2A, cutis laxa, autosomal recessive type 2A, autosomal recessive cutis laxa type 2A, ARCL2A, cutis laxa with bone dystrophy, cutis laxa with congenital disorder of glycosylation, cutis laxa, autosomal recessive, type IIA

id

MONDO:0018163