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Disease Ontology Browser
autosomal recessive cutis laxa type III (DOID:0070143)
Alliance: disease page
Synonyms: cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome
Alt IDs: MESH:C535990, ORDO:2962, UMLS_CUI:C0268354
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory