Not logged in : Login
(Sponging disallowed)

About: Charcot-Marie-Tooth disease type 4E     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
  • Charcot-Marie-Tooth disease type 4E
described by
id
  • DOID:0110195
database_cross_reference
  • ICD10CM:G60.0
  • OMIM:605253
  • ORDO:99951
has_exact_synonym
  • CMT4E (en)
  • Charcot-Marie-Tooth neuropathy type 4E (en)
  • Neuropathy, congenital hypomyelinating, 1 (en)
  • autosomal recessive congenital hypomyelinating or amyelinating neuropathy (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23.
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 08.03.3332 as of Jan 29 2025, on Linux (x86_64-generic-linux-glibc25), Single-Server Edition (378 GB total memory, 22 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software