About: van Bogaert-Hozay syndrome     Goto   Sponge   NotDistinct   Permalink

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human disease

AttributesValues
rdf:type
description
  • human disease (en)
  • хвороба людини (uk)
Mondo ID
Mondo ID
Mondo ID
  • MONDO_0010175
rdfs:label
  • Van-Bogaert-Hozay-Syndrom (de)
  • syndrome de van Bogaert-Hozay (fr)
  • van Bogaert-Hozay syndrome (en)
skos:prefLabel
  • Van-Bogaert-Hozay-Syndrom (de)
  • syndrome de van Bogaert-Hozay (fr)
  • van Bogaert-Hozay syndrome (en)
name
  • Van-Bogaert-Hozay-Syndrom (de)
  • syndrome de van Bogaert-Hozay (fr)
  • van Bogaert-Hozay syndrome (en)
subclass of
subclass of
GARD rare disease ID
OMIM ID
GARD rare disease ID
  • 8415
OMIM ID
  • 277150
skos:altLabel
  • Acro-osteolysis-facial dysplasia syndrome (en)
  • Hozay's syndrome (en)
  • Hozay’s syndrome (en)
  • VAN BOGAERT-HOZAY SYNDROME (en)
  • A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects (en)
UMLS CUI
MeSH descriptor ID
MeSH descriptor ID
UMLS CUI
  • C1848598
MeSH descriptor ID
  • C536526
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