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

NT MGI.

AttributesValues
type
subClassOf
label
  • pontocerebellar hypoplasia type 8
comment
  • NT MGI.
described by
id
  • DOID:0060277
created_by
  • emitraka
creation_date
  • 2015-02-04T14:28:28Z
database_cross_reference
  • ICD10CM:Q04.3
  • OMIM:614961
  • ORDO:324569
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.
is topic of
is annotatedSource of
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