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DO Term : ichthyosis follicularis-alopecia-photophobia syndrome 1 [DOID:0111821] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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 1,
IFAP syndrome 1 with or without BRESHECK syndrome,
GARD:2952,
308205,
MESH:C536085,
OMIM:308205,
UMLS_CUI:C1839988,
ORDO:2273,
ichthyosis follicularis-atrichia-photophobia syndrome 1

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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