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Summary Literature (0)
DOID:0111373 - familial progressive hyperpigmentation with or without hypopigmentation


Disease Ontology 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.

Synonyms: FPHH, MUH, melanosis universalis hereditaria

Xenbase Genes : kitlg


OMIM:
OMIM:145250 - HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), skin disease (is_a)