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Human Disease

primary localized cutaneous amyloidosis 3

Term ID
DOID:0080932
Synonyms
  • Amyloidosis cutis dyschromica
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. https://pubmed.ncbi.nlm.nih.gov/25866143/
References
Ontology
Human Disease   ( DOID:0080932 )
Relationships
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Genes Involved
Zebrafish Models