| Metadata | |
|---|---|
| ID | DOID:0060720 |
| Name | autosomal recessive congenital ichthyosis 11 |
| Definition | An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/17273967, https://www.ncbi.nlm.nih.gov/pubmed/18843291, https://www.ncbi.nlm.nih.gov/pubmed/9450882 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive ichthyosis with hypotrichosis [EXACT] hypotrichosis-congenital ichthyosis syndrome [EXACT] ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis [EXACT] ichthyosis-follicular atrophoderma-hypotrichosis syndrome [EXACT] ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome [EXACT] ichthyosis-hypotrichosis syndrome [EXACT] IFAH syndrome [EXACT] IHS [EXACT] |
| Parent Relationships |