| Metadata | |
|---|---|
| ID | DOID:0060711 |
| Name | autosomal recessive congenital ichthyosis 3 |
| Definition | An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11398099, https://www.ncbi.nlm.nih.gov/pubmed/11773004 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI3 [EXACT] lamellar ichthyosis 5 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |