Not logged in : Login
(Sponging disallowed)

About: Behr syndrome     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
  • Behr syndrome
described by
id
  • DOID:0111580
database_cross_reference
  • GARD:849
  • MESH:C537669
  • NCI:C177251
  • OMIM:210000
  • SNOMEDCT_US_2021_09_01:66988006
  • UMLS_CUI:C0221061
has_exact_synonym
  • Abortive cerebellar ataxia (BEHRS) (en)
  • BEHRS (en)
  • optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss (en)
  • optic atrophy, infantile hereditary, Behr complicated form of (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29.
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