ZFIN Human Disease: autosomal recessive cutis laxa type IIC

OBO ID: DOID:0070140

Term Name:	autosomal recessive cutis laxa type IIC		Search Ontology:
Synonyms:
Definition:	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. https://www.ncbi.nlm.nih.gov/pubmed/28065471
References:	ICD10CM:Q82.8 OMIM:617402
Ontology:	Human Disease ( DOID:0070140 )

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 IIC PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP6V1E1	atp6v1e1b atp6v1e1a	Cutis laxa, autosomal recessive, type IIC	617402

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None