About: Barber-Say syndrome     Goto   Sponge   NotDistinct   Permalink

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rare genetic disorder

AttributesValues
rdf:type
description
  • Krankheit (de)
  • Condizione medica (it)
  • хвороба (uk)
  • rare genetic disorder (en)
  • مرض وراثي نادر (ar)
  • σπάνια γενετική διαταραχή (el)
exact match
exact match
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0008853
DiseasesDB
  • 33294
Disease Ontology ID
  • DOID:0060549
rdfs:label
  • Barber-Say syndrome (en)
  • Barber-Say-Syndrom (de)
  • Sindrome di Barber-Say (it)
  • syndrome de Barber-Say (fr)
  • Σύνδρομο Barber-Say (el)
  • متلازمة باربر-ساي (ar)
skos:prefLabel
  • Barber-Say syndrome (en)
  • Barber-Say-Syndrom (de)
  • Sindrome di Barber-Say (it)
  • syndrome de Barber-Say (fr)
  • Σύνδρομο Barber-Say (el)
  • متلازمة باربر-ساي (ar)
name
  • Barber-Say syndrome (en)
  • Barber-Say-Syndrom (de)
  • Sindrome di Barber-Say (it)
  • syndrome de Barber-Say (fr)
  • Σύνδρομο Barber-Say (el)
  • متلازمة باربر-ساي (ar)
instance of
instance of
subclass of
subclass of
Google Knowledge Graph ID
KEGG ID
Google Knowledge Graph ID
KEGG ID
Google Knowledge Graph ID
  • /g/11b6gspm6b
KEGG ID
  • H01934
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-04543
Orphanet ID
  • 1231
genetic association
ICD-10-CM
  • Q87.0
GARD rare disease ID
  • 819
OMIM ID
  • 209885
skos:altLabel
  • BBRSAY (en)
  • Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (en)
  • BARBER-SAY SYNDROME (en)
  • BARBER-SAY SYNDROME; BBRSAY (en)
  • Barber Say syndrome (en)
  • Bss (en)
  • Hypertrichosis atrophic skin ectropion macrostomia (en)
  • Σύνδρομο Μπάρμπερ-Σέι (el)
  • Hypertrichosis, atrophic skin, ectropion, and macrostomia (en)
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
ICD-11 (foundation)
MeSH descriptor ID
UMLS CUI
  • C1319466
MeSH descriptor ID
  • C537908
on focus list of Wikimedia project
ICD-11 (foundation)
  • 37248895
is owl:sameAs of
is about of
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