| Metadata | |
|---|---|
| ID | DOID:0080258 |
| Name | autosomal recessive congenital ichthyosis 14 |
| 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 SULT2B1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/28575648/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |