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DO Term : primary localized cutaneous amyloidosis 3 [DOID:0080932] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions.
  • synonyms:
  • Amyloidosis cutis dyschromica,
  • OMIM:617920,
  • 617920
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents