autosomal dominant cutis laxa 3

Summary

DOID:0070131 - autosomal dominant cutis laxa 3

Disease Ontology Definition:An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Synonyms: ADCL3,

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

: aldh18a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014706 - cutis laxa, autosomal dominant 3

MONDO:0014706 - cutis laxa, autosomal dominant 3

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

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

Parent(s): autosomal dominant cutis laxa (is_a)