About: Birk-Barel syndrome     Goto   Sponge   NotDistinct   Permalink

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Human disease

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • Human disease (en)
  • maladie (fr)
  • մարդու հիվանդություն (hy)
  • хвороба людини (uk)
  • مرض يصيب الإنسان (ar)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0012856
Disease Ontology ID
  • DOID:0050675
rdfs:label
  • Birk-Barel syndrome (en)
  • Birk-Barelov sindrom (sl)
  • déficit intellectuel type Birk-Barel (fr)
skos:prefLabel
  • Birk-Barel syndrome (en)
  • Birk-Barelov sindrom (sl)
  • déficit intellectuel type Birk-Barel (fr)
name
  • Birk-Barel syndrome (en)
  • Birk-Barelov sindrom (sl)
  • déficit intellectuel type Birk-Barel (fr)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H00709
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-02513
Orphanet ID
  • 166108
genetic association
ICD-10-CM
  • Q87.8
GARD rare disease ID
  • 10358
OMIM ID
  • 612292
Genetics Home Reference Conditions ID
  • kcnk9-imprinting-syndrome
skos:altLabel
  • BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME (en)
  • Birk Barel mental retardation dysmorphism syndrome (en)
  • Birk-Barel Syndrome (en)
  • Intellectual disability, Birk-Barel type (en)
  • Mental Retardation With Hypotonia and Facial Dysmorphism (en)
  • Intellectual disability-hypotonia-facial dysmorphism syndrome (en)
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
MeSH descriptor ID
UMLS CUI
  • C2676770
MeSH descriptor ID
  • C567357
on focus list of Wikimedia project
is about of
is main subject of
is main subject of
is genetic association of
is genetic association of
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