DISEASES

Disease-gene associations mined from literature

Human genes for ichthyosis follicularis-alopecia-photophobia syndrome

Ichthyosis follicularis-alopecia-photophobia syndrome [DOID:0111821]

A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.

Synonyms:  ichthyosis follicularis-alopecia-photophobia syndrome,  DOID:0111821,  ichthyosis follicularisalopeciaphotophobia syndrome,  ichthyosis follicularis-alopecia-photophobia disease,  ichthyosis follicularis-alopecia-photophobia disorder ...