Metadata | |
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ID | DOID:0060718 |
Name | autosomal recessive congenital ichthyosis 9 |
Definition | An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. https://www.ncbi.nlm.nih.gov/pubmed/23754960, https://www.ncbi.nlm.nih.gov/pubmed/21093221 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ARCI9 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |