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Namespace Prefixes

PrefixIRI
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owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0111510
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2121
rdfs:label
Marshall syndrome
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111510
obo:hasDbXref
SNOMEDCT_US_2021_09_01:33410002 GARD:6984 NCI:C128115 MESH:C536025 ORDO:560 OMIM:154780 UMLS_CUI:C0265235
obo:hasExactSynonym
MRSHS deafness, myopia, cataract, saddle nose-Marshall type
obo:hasOBONamespace
disease_ontology
n2: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.