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Metadata
ID DOID:0060719
Name autosomal recessive congenital ichthyosis 10
Definition An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21.
https://www.ncbi.nlm.nih.gov/pubmed/22246504
Xrefs

ICD10CM:Q80.2

OMIM:615024

Subsets

DO_rare_slim

Synonyms

ARCI10 [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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