OBO ID: DOID:0080932
Term Name: primary localized cutaneous amyloidosis 3 Search Ontology:
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
is a type of:
OTHER primary localized cutaneous amyloidosis 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPNMB Amyloidosis, primary localized cutaneous, 3 617920
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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