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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:familial progressive hyperpigmentation with or without hypopigmentation
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Accession:DOID:0111373 term browser browse the term
Definition:A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: FPHH;   MUH;   familial progressive hyperpigmentation;   melanosis universalis hereditaria
 narrow_synonym: FPH2;   familial progressive hyperpigmentation, 2
 primary_id: MESH:C564163
 alt_id: OMIM:145250


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familial progressive hyperpigmentation with or without hypopigmentation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15040480 PMID:15551335 PMID:19375057 PMID:21368769 PMID:24033266 More... NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      skin disease 3969
        pigmentation disease 278
          Hyperpigmentation 50
            familial progressive hyperpigmentation with or without hypopigmentation 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              pigmentation disease 278
                Hyperpigmentation 50
                  familial progressive hyperpigmentation with or without hypopigmentation 1
paths to the root