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Disease Ontology Browser
Coffin-Siris syndrome (DOID:1925)
Alliance: disease page
Synonyms: Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Short Stature-Onychodysplasia.
Alt IDs: MESH:C536436, NCI:C35321, OMIM:PS135900, ORDO:1465, UMLS_CUI:C0265338
Definition: An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails.

Disease References using Mouse Models (2)
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