Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111821 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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