Review hierarchy for dilated cardiomyopathy

[nicolevasilevsky]

From @pnrobinson on May 26, 2017 10:27

[Term]
id: DOID:12930
name: dilated cardiomyopathy

This term conflates idiopathic dilated cardiomyopathy with familial dilated cardiomyopathy (the latter is a Mendelian disease). Some of the synonyms appear to conflate these two concepts (synonym: "Familial Idiopathic Cardiomyopathy" RELATED []). Also, familial cardiomyopathy should be a superclass of familial dilated cardiomyopathy.

e.g.,

synonym: "Dilated Cardiomyopathy, Idiopathic" RELATED []
synonym: "Familial dilated cardiomyopathy" RELATED [MESH:C536231]
synonym: "Familial Idiopathic Cardiomyopathies" RELATED []
synonym: "Familial Idiopathic Cardiomyopathy" RELATED []
synonym: "Idiopathic Cardiomyopathies, Familial" RELATED []
synonym: "Idiopathic Cardiomyopathy, Familial" RELATED []
synonym: "Idiopathic Dilated Cardiomyopathies" RELATED []

Copied from original issue: monarch-initiative/monarch-disease-ontology-RETIRED#245

[nicolevasilevsky]

From @cmungall on May 26, 2017 16:21

These come is from MESH. The MESH concept is equivalent:

id: MESH:D002311
name: Cardiomyopathy, Dilated
def: "A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein." [MESH:D002311]

But the MESH synonyms are not appropriate. Technically there is a bit of wiggle-room with RELATED, but clearly the overall quality would be better if we use DO as source of synonyms.

[nicolevasilevsky]

Action items are here:

From @pnrobinson on May 26, 2017 16:29

The terminology in this area is horrible. Idiopathic is essentially used as a NOS category apparently
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402574/
We should have something like
cardiomyopathy
--hereditary cardiomyopathy
--toxic cardiomyopathy
----toxin 1
----toxin 2
--ischemic cardiomyopathy
--infectious
etc
The DO hierarchy is incomplete and inconsistent.

[nicolevasilevsky]

Looks like this has been somewhat addressed, but do we want to create a new hierarchy like @pnrobinson suggested above?