About: autosomal recessive nonsyndromic deafness 74     Goto   Sponge   NotDistinct   Permalink

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autosomal recessive nonsyndromic deafness that has material basis in mutation in the MSRB3 gene on chromosome 12q14

AttributesValues
rdf:type
description
  • Krankheit (de)
  • مرض يصيب الإنسان (ar)
  • хвороба (uk)
  • autosomal recessive nonsyndromic deafness that has material basis in mutation in the MSRB3 gene on chromosome 12q14 (en)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0013386
Disease Ontology ID
  • DOID:0110523
rdfs:label
  • autosomal recessive nonsyndromic deafness 74 (en)
skos:prefLabel
  • autosomal recessive nonsyndromic deafness 74 (en)
name
  • autosomal recessive nonsyndromic deafness 74 (en)
instance of
instance of
subclass of
subclass of
UniProt disease ID
genetic association
ICD-10-CM
OMIM ID
UniProt disease ID
  • DI-02958
genetic association
ICD-10-CM
  • H90.3
OMIM ID
  • 613718
skos:altLabel
  • DEAFNESS, AUTOSOMAL RECESSIVE 74 (en)
  • DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74 (en)
  • DFNB74 (en)
  • Deafness, Autosomal Recessive type 74 (en)
  • autosomal recessive deafness 74 (en)
  • autosomal recessive nonsyndromic deafness type 74 (en)
UMLS CUI
on focus list of Wikimedia project
UMLS CUI
  • C2239351
on focus list of Wikimedia project
is about of
is genetic association of
is genetic association of
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