Not logged in : Login
(Sponging disallowed)

About: torsion dystonia 4     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • torsion dystonia 4
described by
id
  • DOID:0090041
database_cross_reference
  • ICD10CM:G24.1
  • OMIM:128101
  • ORDO:98805
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.
is topic of
is annotatedSource of
Faceted Search & Find service v1.17_git149 as of Dec 03 2024


Alternative Linked Data Documents: iSPARQL | 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 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 34 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software