| Metadata | |
|---|---|
| ID | DOID:0111821 |
| Name | ichthyosis follicularis-alopecia-photophobia syndrome 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/22105905, https://www.ncbi.nlm.nih.gov/pubmed/4037843 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ichthyosis follicularis-atrichia-photophobia syndrome 1 [EXACT] IFAP syndrome 1 [EXACT] IFAP syndrome 1 with or without BRESHECK syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has phenotype some Epidermal thickening has material basis in some X-linked recessive inheritance |