autosomal recessive cutis laxa type IB

Summary

DOID:0070133 - autosomal recessive cutis laxa type IB

Disease Ontology 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.

Synonyms: ARCL1B,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: efemp2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013754 - cutis laxa, autosomal recessive, type 1B

MONDO:0013754 - cutis laxa, autosomal recessive, type 1B

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cutis laxa type I (is_a)