FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial progressive hyperpigmentation with or without hypopigmentation ID (Ontology) DOID:0111373 (Human Disease)
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.
Also Known As "FPHH" ; "melanosis universalis hereditaria" ; "MUH"
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autosomal genetic disease
 |__autosomal dominant disease__
integumentary system disease    |
 |__skin disease________________|
                                familial progressive hyperpigmentation with or without hypopigmentation
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Is a autosomal dominant disease
skin disease
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Synonyms
  • "FPHH" EXACT OMO:0003012
    "melanosis universalis hereditaria" EXACT
    "MUH" EXACT OMO:0003012
Secondary IDs
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MIM:145250