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DOID:0111821 - ichthyosis follicularis-alopecia-photophobia syndrome 1
Disease Ontology 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.
Synonyms: IFAP syndrome, IFAP syndrome 1, IFAP syndrome 1 with or without BRESHECK syndrome, IFAP syndrome with or without BRESHECK syndrome, ichthyosis follicularis-atrichia-photophobia syndrome, ichthyosis follicularis-atrichia-photophobia syndrome 1,
Xenbase Genes
:
mbtps2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)