Not logged in : Login
(Sponging disallowed)

About: Charcot-Marie-Tooth disease type 2A2B     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 2A2B
described by
id
  • DOID:0111557
database_cross_reference
  • OMIM:617087
  • ORDO:90118
has_exact_synonym
  • AR-CMT2, Ouvrier type (en)
  • autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type (en)
  • CMT2A2B (en)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (en)
  • SEOAN due to MFN2 deficiency (en)
  • severe early-onset axonal neuropathy due to MFN2 deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22.
is topic of
is annotatedSource of
Faceted Search & Find service v1.17_git151 as of Feb 20 2025


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 Mar 17 2025, on Linux (x86_64-generic-linux-glibc25), Single-Server Edition (378 GB total memory, 13 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software