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About: hypomyelinating leukodystrophy 11     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
  • hypomyelinating leukodystrophy 11
described by
id
  • DOID:0060792
database_cross_reference
  • ICD10CM:G11.1
  • OMIM:616494
has_exact_synonym
  • HLD11 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
is topic of
is annotatedSource of
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