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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 the KITLG gene on chromosome 12q21.32.
Synonyms: FPHH, MUH, melanosis universalis hereditaria,
Xenbase Genes
:
kitlg
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)