autosomal recessive congenital ichthyosis 10

Summary

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

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

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

: pnpla1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014011 - autosomal recessive congenital ichthyosis 10

MONDO:0014011 - autosomal recessive congenital ichthyosis 10

MIM:

MIM:615024 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10

MIM:615024 - ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10

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

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

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