ichthyosis follicularis-alopecia-photophobia syndrome 1

Summary

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: ichthyosis follicularis-atrichia-photophobia syndrome, ichthyosis follicularis-atrichia-photophobia syndrome 1, IFAP syndrome, IFAP syndrome 1, IFAP syndrome 1 with or without BRESHECK syndrome, IFAP syndrome with or without BRESHECK syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mbtps2

MIM:

MIM:308205 - IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME; IFAP1

MIM:308205 - IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME; IFAP1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndrome (is_a), X-linked recessive disease (is_a)