ZFIN Human Disease: autosomal recessive cutis laxa type IID

OBO ID: DOID:0070129

Term Name:	autosomal recessive cutis laxa type IID		Search Ontology:
Synonyms:	ARCL2D
Definition:	An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. https://www.ncbi.nlm.nih.gov/pubmed/28065471
References:	ICD10CM:Q82.8 OMIM:617403
Ontology:	Human Disease ( DOID:0070129 )

Relationships

is a type of:	autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type II classic type Show first 5 Terms

OTHER autosomal recessive cutis laxa type IID PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP6V1A	atp6v1aa atp6v1ab	Cutis laxa, autosomal recessive, type IID	617403

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None