Search Ontology:
Human Disease

Marshall syndrome

Term ID
DOID:0111510
Synonyms
  • deafness, myopia, cataract, saddle nose-Marshall type
  • MRSHS
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. (3)
References
Ontology
Human Disease   ( DOID:0111510 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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