JSON

hypercholesterolemia, autosomal dominant, 3

Go to external page http://purl.obolibrary.org/obo/MONDO_0011369

Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: hypercholesterolemia, familial, 3 hypercholesterolemia, autosomal dominant, type 3 familial hypercholesterolemia caused by mutation in PCSK9 hypercholesterolemia, autosomal dominant, 3 low density lipoprotein cholesterol level QTL 1 PCSK9 familial hypercholesterolemia

This is just here as a test because I lose it

Term information

database cross reference
Subsets

rare, inferred_rare, clingen

IAO 0000233

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

exactMatch

https://omim.org/entry/603776

http://linkedlifedata.com/resource/umls/id/C1863551

http://identifiers.org/mesh/C566337

has related synonym

Fh3

low density lipoprotein cholesterol level quantitative trait locus 1

HCHOLA3

id

MONDO:0011369

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011369

Term relations