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palmoplantar keratoderma, punctate type 1A

Go to external page http://purl.obolibrary.org/obo/MONDO_0007858

Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: keratoderma, palmoplantar, punctate type IA palmoplantar keratoderma, punctate type 1A AAGAB punctate palmoplantar keratoderma punctate palmoplantar keratoderma caused by mutation in AAGAB

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/148600

http://purl.obolibrary.org/obo/DOID_0080214

has related synonym

keratosis palmoplantaris papulosa

palmoplantar keratoderma, punctate type IA

keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type

palmoplantar keratoderma, punctate type 1

Kppp1

PPKP1A

punctate palmoplantar keratoderma type 1A

id

MONDO:0007858