OBO ID: DOID:0111373 |
Term Name: | familial progressive hyperpigmentation with or without hypopigmentation | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111373 ) |
OTHER familial progressive hyperpigmentation with or without hypopigmentation PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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