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familial progressive hyperpigmentation with or without hypopigmentation (DOID:0111373)
Alliance: disease page
Synonyms: FPHH; melanosis universalis hereditaria; MUH
Alt IDs: OMIM:145250
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
07/29/2020
MGI 6.15
The Jackson Laboratory