About: Helsmoortel-Van Der Aa syndrome     Goto   Sponge   NotDistinct   Permalink

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

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

AttributesValues
rdf:type
description
  • An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. (en)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0014379
Disease Ontology ID
  • DOID:0070058
rdfs:label
  • Helsmoortel-Van Der Aa syndrome (en)
  • syndrome ADNP (fr)
  • Синдром Хельсмуртел-ван дер Аа (ru)
  • Хелсмуртел-Ван дер Аа синдром (mk)
skos:prefLabel
  • Helsmoortel-Van Der Aa syndrome (en)
  • syndrome ADNP (fr)
  • Синдром Хельсмуртел-ван дер Аа (ru)
  • Хелсмуртел-Ван дер Аа синдром (mk)
name
  • Helsmoortel-Van Der Aa syndrome (en)
  • syndrome ADNP (fr)
  • Синдром Хельсмуртел-ван дер Аа (ru)
  • Хелсмуртел-Ван дер Аа синдром (mk)
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/11gl62w_37
KEGG ID
  • H02365
UniProt disease ID
Orphanet ID
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
UniProt disease ID
  • DI-04149
Orphanet ID
  • 404448
genetic association
ICD-10-CM
  • Q87.0
GARD rare disease ID
  • 12931
OMIM ID
  • 615873
skos:altLabel
  • ADNP syndrome (en)
  • HELSMOORTEL-VAN DER AA SYNDROME (en)
  • HELSMOORTEL-VAN DER AA SYNDROME; HVDAS (en)
  • HVDAS (en)
  • Helsmoortel-Van der Aa syndrome (en)
  • MRD28 (en)
  • Mental Retardation, Autosomal Dominant 28 (en)
  • autosomal dominant mental retardation 28 (en)
  • syndrome de Helsmoortel-Van Der Aa (fr)
NCI Thesaurus ID
UMLS CUI
on focus list of Wikimedia project
NCI Thesaurus ID
  • C160662
UMLS CUI
  • C4014538
on focus list of Wikimedia project
is owl:sameAs of
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
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, 194 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software