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About: Griscelli syndrome type 1     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
  • Griscelli syndrome type 1
described by
id
  • DOID:0060832
database_cross_reference
  • GARD:2566
  • MESH:C537301
  • OMIM:214450
  • ORDO:79476
  • UMLS_CUI:C1859194
has_exact_synonym
  • GS1 (en)
  • Griscelli syndrome with neurological impairment (en)
  • Griscelli-Prunieras syndrome type 1 (en)
  • Griscelli syndrome, cutaneous and neurological type (en)
  • hypopigmentation-neurologic impairment syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.
is topic of
is annotatedSource of
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