ichthyosis follicularis-alopecia-photophobia syndrome 1 Disease Ontology Browser

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Disease Ontology Browser

ichthyosis follicularis-alopecia-photophobia syndrome 1 (DOID:0111821)
Alliance: disease page
Synonyms: ichthyosis follicularis-atrichia-photophobia syndrome 1; IFAP syndrome 1; IFAP syndrome 1 with or without BRESHECK syndrome
Alt IDs: OMIM:308205, MESH:C536085, ORDO:2273, UMLS_CUI:C1839988
Definition: A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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