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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:primary localized cutaneous amyloidosis 3
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Accession:DOID:0080932 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ACD;   PLCA3;   amyloidosis cutis dyschromica
 primary_id: OMIM:617920
 alt_id: DOID:9009134


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primary localized cutaneous amyloidosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPNMB glycoprotein nmb ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 OMIM
ClinVar		 PMID:19416385 PMID:25741868 PMID:25866143 PMID:28492532 PMID:29336782 NCBI chr14:36,919,184...36,947,023
Ensembl chr14:36,919,296...36,946,643 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6598
      skin disease 3758
        Genetic Skin Diseases 1819
          primary cutaneous amyloidosis 5
            primary localized cutaneous amyloidosis 3 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15149
      nervous system disease 13210
        Neurologic Manifestations 9577
          sensory system disease 6598
            skin disease 3758
              Genetic Skin Diseases 1819
                primary cutaneous amyloidosis 5
                  primary localized cutaneous amyloidosis 3 1
paths to the root