ZFIN Human Disease: autosomal recessive cutis laxa type IIA

OBO ID: DOID:0070134

Term Name:	autosomal recessive cutis laxa type IIA		Search Ontology:
Synonyms:	ARCL2A
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. (2)
References:	ICD10CM:Q82.8 OMIM:219200
Ontology:	Human Disease ( DOID:0070134 )

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP6V0A2	atp6v0a2a atp6v0a2b	Cutis laxa, autosomal recessive, type IIA	219200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None