'disease' caused by variation in 'gene'

'disease' caused by variation in 'gene'

http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gene.yaml

Any 'disease' in which the cause of the disease is a variation in the 'gene' gene.

Any 'disease' in which the cause of the disease is a mutation in the 'gene' gene, and has 'mode of inheritance'.

Synonyms: 'gene' related 'disease' 'gene' 'disease', 'mode of inheritance' 'gene' 'disease' 'gene' related 'disease', 'mode of inheritance' 'disease' caused by mutation in 'gene'

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Term mappings

This is just here as a test because I lose it

Term information

title

OMIM_disease_series_by_gene

disease_series_by_gene

disease_series_by_gene_and_inheritance

Term relations

Equivalent to:

MONDO_0000001 and has characteristic some HP_0000005 and has material basis in germline mutation in some SO_0000704
MONDO_0000001 and has material basis in germline mutation in some SO_0000704
MONDO_0000001 and has material basis in germline mutation in some SO_0001217

Subclass of:

BFO_0000017
'disease' or 'disease'
MONDO_0000001