OBO ID: DOID:0111821
Term Name: ichthyosis follicularis-alopecia-photophobia syndrome 1 Search Ontology:
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 MBTPS2 on chromosome Xp22.12. (2)
References:
Ontology: Human Disease   (DOID:0111821)
OTHER ichthyosis follicularis-alopecia-photophobia syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MBTPS2 IFAP syndrome with or without BRESHECK syndrome 308205
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None