ZFIN Human Disease: autosomal recessive cutis laxa type IB

OBO ID: DOID:0070133

Term Name:	autosomal recessive cutis laxa type IB		Search Ontology:
Synonyms:	ARCL1B
Definition:	An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. (2)
References:	ICD10CM:Q82.8 OMIM:614437
Ontology:	Human Disease ( DOID:0070133 )

Relationships

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

OTHER autosomal recessive cutis laxa type IB PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EFEMP2	efemp2a efemp2b	Cutis laxa, autosomal recessive, type IB	614437

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None