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Namespace Prefixes

PrefixIRI
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rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n4:DOID_0060720
rdf:type
owl:Class
rdfs:subClassOf
n4:DOID_0060655 _:vb50939264
rdfs:label
autosomal recessive congenital ichthyosis 11
wdrs:describedby
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obo:id
DOID:0060720
obo:hasDbXref
OMIM:602400 ICD10CM:Q80.8
obo:hasExactSynonym
IHS IFAH syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis autosomal recessive ichthyosis with hypotrichosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome hypotrichosis-congenital ichthyosis syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim
n4:IAO_0000115
An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.
Subject Item
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n4:RO_0004019
owl:someValuesFrom
n4:HP_0001197
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n3:doid.owl