autosomal recessive congenital ichthyosis 10

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Summary

Literature (0)

DOID:0060719 - autosomal recessive congenital ichthyosis 10

Disease Ontology 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.

Synonyms: ARCI10,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:615024 - ichthyosis, congenital, autosomal recessive 10; arci10

MIM:615024 - ichthyosis, congenital, autosomal recessive 10; arci10

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive congenital ichthyosis (is_a)