autosomal recessive cutis laxa type IA

Summary

DOID:0070135 - autosomal recessive cutis laxa type IA

Disease Ontology 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.

Synonyms: ARCL1A

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

: lox, fbln5, efemp2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009052 - cutis laxa, autosomal recessive, type 1A

MONDO:0009052 - cutis laxa, autosomal recessive, type 1A

MIM:

MIM:219100 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A

MIM:219100 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A

Other Model Organisms: Alliance, 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)