About: hypotonia, ataxia, developmental delay, and tooth enamel defect 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_0060666
rdfs:label
  • hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (en)
skos:prefLabel
  • hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (en)
name
  • hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (en)
instance of
instance of
UniProt disease ID
genetic association
OMIM ID
UniProt disease ID
  • DI-05219
genetic association
OMIM ID
  • 617915
skos:altLabel
  • HADDTS (en)
NCI Thesaurus ID
NCI Thesaurus ID
  • C192635
is about of
is main subject of
is main subject of
is genetic association of
is genetic association of
is established from medical condition of
is established from medical condition of
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