autosomal recessive congenital ichthyosis 10

Go to external page http://purl.obolibrary.org/obo/MONDO_0014011


Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
ARCI10 [ https://omim.org/entry/615024 DOID:0060719 MONDO:Lexical ]

definition

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3554355

http://identifiers.org/omim/615024

http://purl.obolibrary.org/obo/DOID_0060719

has exact synonym

ARCI10

ichthyosis, congenital, autosomal recessive type 10

autosomal recessive congenital ichthyosis type 10

has related synonym

ichthyosis, congenital, autosomal recessive 10

id

MONDO:0014011