| Metadata | |
|---|---|
| ID | DOID:0060656 |
| Name | autosomal recessive congenital ichthyosis 1 |
| Definition | An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/7824952 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI1 [EXACT] bathing suit ichthyosis [NARROW] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |