Familial Progressive Hyperpigmentation With Or Without Hypopigmentation
Disease ID: disease_node_20036
Connections displayed (default: 10).
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| Dbxref | MIM:145250 |
|---|---|
| Subclassof | DOID_0050736, DOID_37 |
| Data Source | DOID |
| Synonyms | FPHH, MUH, melanosis universalis hereditaria |
| Doid Label | familial progressive hyperpigmentation with or without hypopigmentation |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20036 |
| Doid Id | DOID_0111373 |
| Label | Familial Progressive Hyperpigmentation With Or Without Hypopigmentation |
- Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)