Visualize Submit Comment

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 MIM:615024
Subsets	DO_rare_slim
Synonyms	ARCI10 [EXACT]
Parent Relationships	is_a autosomal recessive congenital ichthyosis
Subclass Logical Relationships	disease has basis in some Abnormality of prenatal development or birth