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| Term | primary localized cutaneous amyloidosis 3 | ID (Ontology) | DOID:0080932 (Human Disease) |
| 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. | ||
| Also Known As | "Amyloidosis cutis dyschromica" | ||
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| DO.org | |||
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skin disease__________________ inherited metabolic disorder__| amyloidosis___________________| primary cutaneous amyloidosis |__primary localized cutaneous amyloidosis 3 |
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| Is a | primary cutaneous amyloidosis | ||
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| MIM:617920 | |||