monarch-initiative / monarch-disease-ontology-RETIRED

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familial isolated restrictive cardiomyopathy #416

Closed cmungall closed 6 years ago

cmungall commented 6 years ago

the arrows to 1kk and 26 don't seem right:

image

this happens as we assign prior weights according to orphanet BTNT/NTBT calls:

[Term]
id: Orphanet:75249
name: Familial isolated restrictive cardiomyopathy
synonym: "Familial or idiopathic restrictive cardiomyopathy" EXACT []
xref: ICD10:I42.5 {http://purl.obolibrary.org/obo/ECO_0000218="E (exact mapping (the terms and the concepts are equivalent))"}
xref: ICD10:I42.5 {http://purl.obolibrary.org/obo/ECO_0000218="Specific code (The term has its own code in the ICD10)"}
xref: OMIM:115210 {http://purl.obolibrary.org/obo/ECO_0000218="BTNT (broader term maps to a narrower term)"}
xref: OMIM:609578 {http://purl.obolibrary.org/obo/ECO_0000218="BTNT (broader term maps to a narrower term)"}
xref: OMIM:612422 {http://purl.obolibrary.org/obo/ECO_0000218="BTNT (broader term maps to a narrower term)"}
xref: OMIM:615248 {http://purl.obolibrary.org/obo/ECO_0000218="NTBT (narrower term maps to a broader term)"}
xref: OMIM:617047 {http://purl.obolibrary.org/obo/ECO_0000218="NTBT (narrower term maps to a broader term)"}
is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="Disease"} ! disease
relationship: has_AgeOfOnset Orphanet:409950 ! All ages
relationship: has_inheritance Orphanet:409929 ! autosomal dominant
relationship: has_inheritance Orphanet:409941 ! not inherited
relationship: part_of Orphanet:217635 ! Familial restrictive cardiomyopathy
nicolevasilevsky commented 6 years ago

This issue was moved to monarch-initiative/mondo#152