| Metadata | |
|---|---|
| ID | DOID:0111373 |
| Name | familial progressive hyperpigmentation with or without hypopigmentation |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/21368769, https://www.ncbi.nlm.nih.gov/pubmed/19375057 |
| Xrefs | |
| Synonyms |
FPHH [EXACT] melanosis universalis hereditaria [EXACT] MUH [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a skin disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |