|OBO ID: DOID:0111821|
|Term Name:||ichthyosis follicularis-alopecia-photophobia syndrome 1||Search Ontology:|
|Definition:||A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12. (2)|
|Ontology:||Human Disease (DOID:0111821)|
|is a type of:||
OTHER ichthyosis follicularis-alopecia-photophobia syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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