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Disease Ontology Browser
Marshall syndrome (DOID:0111510)
Alliance: disease page
Synonyms: deafness, myopia, cataract, saddle nose-Marshall type; MRSHS
Alt IDs: OMIM:154780, MESH:C536025, NCI:C128115, ORDO:560, UMLS_CUI:C0265235
Definition: An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.

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
12/10/2024
MGI 6.24 		The Jackson Laboratory