OBO ID: DOID:0111510
Term Name: Marshall syndrome Search Ontology:
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 Marshall syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL11A1 Marshall syndrome 154780
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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