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Human Disease
autosomal recessive congenital ichthyosis 6
- Term ID
- DOID:0060715
- Synonyms
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- ARCI6
- 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. (2)
- References
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- ICD10CM:Q80.2
- MIM:612281
- Ontology
- Human Disease ( DOID:0060715 )
- is a type of
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