Metadata | |
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ID | DOID:0060715 |
Name | autosomal recessive congenital ichthyosis 6 |
Definition | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. https://www.ncbi.nlm.nih.gov/pubmed/17557927, https://www.ncbi.nlm.nih.gov/pubmed/16436457 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ARCI6 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |