OBO ID: DOID:0111373
Term Name: familial progressive hyperpigmentation with or without hypopigmentation Search Ontology:
Synonyms:
  • FPHH
  • melanosis universalis hereditaria
  • MUH
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 KITLG on chromosome 12q21.32. (2)
References:
Ontology: Human Disease   (DOID:0111373)
OTHER familial progressive hyperpigmentation with or without hypopigmentation PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KITLG Hyperpigmentation with or without hypopigmentation 145250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None