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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Marshall syndrome
described by
id
  • DOID:0111510
database_cross_reference
  • GARD:6984
  • MESH:C536025
  • NCI:C128115
  • OMIM:154780
  • ORDO:560
  • SNOMEDCT_US_2021_09_01:33410002
  • UMLS_CUI:C0265235
has_exact_synonym
  • MRSHS (en)
  • deafness, myopia, cataract, saddle nose-Marshall type (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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 COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome.
is topic of
is annotatedSource of
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