Search Ontology:
Human Disease
familial progressive hyperpigmentation with or without hypopigmentation
- Term ID
- DOID:0111373
- Synonyms
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- 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 )
- is a type of
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