About: PMP22-RAI1 contiguous gene duplication syndrome     Goto   Sponge   NotDistinct   Permalink

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human disease

AttributesValues
rdf:type
description
  • human disease (en)
  • хвороба людини (uk)
exact match
exact match
Mondo ID
Mondo ID
Mondo ID
  • MONDO_0014723
rdfs:label
  • PMP22-RAI1 contiguous gene duplication syndrome (en)
  • Yuan-Harel-Lupski-Syndrom (de)
skos:prefLabel
  • PMP22-RAI1 contiguous gene duplication syndrome (en)
  • Yuan-Harel-Lupski-Syndrom (de)
name
  • PMP22-RAI1 contiguous gene duplication syndrome (en)
  • Yuan-Harel-Lupski-Syndrom (de)
instance of
instance of
subclass of
subclass of
Orphanet ID
OMIM ID
Orphanet ID
  • 477817
OMIM ID
  • 616652
skos:altLabel
  • YUHAL (en)
  • Yuan-Harel-Lupski syndrome (en)
  • 17p11.2p12 microduplication syndrome (en)
  • Dup(17)(p11.2p12) (en)
  • Trisomy 17p11.2-p12 (en)
  • Trisomy 17p11.2p12 (en)
UMLS CUI
UMLS CUI
  • C4225255
is about of
is main subject of
is main subject of
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