About: heart defect-tongue hamartoma-polysyndactyly syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

AttributesValues
rdf:type
description
  • human disease (en)
  • хвороба людини (uk)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0009008
Disease Ontology ID
  • DOID:0111591
rdfs:label
  • heart defect-tongue hamartoma-polysyndactyly syndrome (en)
skos:prefLabel
  • heart defect-tongue hamartoma-polysyndactyly syndrome (en)
name
  • heart defect-tongue hamartoma-polysyndactyly syndrome (en)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H02455
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-04320
Orphanet ID
  • 1338
genetic association
ICD-10-CM
  • Q87.8
GARD rare disease ID
  • 2612
OMIM ID
  • 217085
skos:altLabel
  • CHDTHP (en)
  • Ostravik-Lindemann-Solberg syndrome (en)
  • CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (en)
  • congenital heart defects, hamartomas of tongue, and polysyndactyly (en)
  • CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP (en)
UMLS CUI
MeSH descriptor ID
MeSH descriptor ID
UMLS CUI
  • C1857587
  • C2931046
MeSH descriptor ID
  • C535849
is owl:sameAs of
is about of
is genetic association of
is genetic association of
Faceted Search & Find service v1.16.117 as of May 05 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 172 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software