ZFIN Human Disease: autosomal recessive cutis laxa type IA

OBO ID: DOID:0070135

Term Name:	autosomal recessive cutis laxa type IA		Search Ontology:
Synonyms:	ARCL1A
Definition:	An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/12189163
References:	ICD10CM:Q82.8 OMIM:219100
Ontology:	Human Disease ( DOID:0070135 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FBLN5	fbln5	Cutis laxa, autosomal recessive, type IA	219100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None