autosomal recessive cutis laxa type III

Summary

DOID:0070143 - autosomal recessive cutis laxa type III

Disease Ontology Definition:A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract.

Synonyms: cutis laxa-corneal clouding-intellectual disability syndrome, De Barsy syndrome

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

: pycr1, aldh18a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0017569 - de Barsy syndrome

MONDO:0017569 - de Barsy syndrome

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

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

Parent(s): autosomal recessive disease (is_a), cutis laxa (is_a)