Search Ontology:
Human Disease

familial progressive hyperpigmentation with or without hypopigmentation

Term ID
DOID:0111373
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 the KITLG gene on chromosome 12q21.32. (2)
References
Ontology
Human Disease   ( DOID:0111373 )
Relationships
is a type of
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Genes Involved
Zebrafish Models