ichthyosis follicularis-alopecia-photophobia syndrome 1

Term ID

DOID:0111821

Synonyms

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

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. (2)

References

• GARD:2952
• MESH:C536085
• MIM:308205
• ORDO:2273
• UMLS_CUI:C1839988

Ontology

Human Disease   ( DOID:0111821 )