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Summary Literature (0)
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

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

In Mondo Disease Ontology:
MONDO:0009052 - cutis laxa, autosomal recessive, type 1A

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : lox, fbln5, efemp2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive cutis laxa type I (is_a)