autosomal recessive cutis laxa type IIIA

Summary

DOID:0070132 - autosomal recessive cutis laxa type IIIA

Disease Ontology Definition:A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Synonyms: ARCL3A, De Barsy syndrome A

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:0009053 - ALDH18A1-related de Barsy syndrome

MONDO:0009053 - ALDH18A1-related de Barsy syndrome

MIM:

MIM:219150 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

MIM:219150 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

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 III (is_a)