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Summary Literature (0)
DOID:0080932 - primary localized cutaneous amyloidosis 3

Disease Ontology Definition: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

Xenbase Genes : gpnmb


MIM:
MIM:617920 - AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3; PLCA3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): primary cutaneous amyloidosis (is_a)