is_omimps_descendant
URI: matrix_schema:is_omimps_descendant
Applicable to: DiseaseListEntry
Description
Flag to denote this disease is a child/descendant of a disease that is manually curated to be a phenotypic series according to OMIM (https://www.omim.org/), one of the most important genetic disease authorities in the world. If it is a descendant of a phenotypic series, it most likely is a proper genetic disease entity (or subtype). __
Properties
-
Range: Boolean. The range of the element is the type of the value that can be assigned to it.
-
Required?: Optional
See Also
These are some relevant resources you might find useful to get additional information about the element, such as example implementations, external websites, issues and pull requests.
- https://github.com/everycure-org/matrix-disease-list/blob/main/sparql/matrix-disease-list-filters.sparql
- https://www.omim.org/
- https://www.omim.org/help/faq#1_14
- http://dev.everycure.org/schema/is_omimps
Schema developer documentation
LinkML source
name: is_omimps_descendant
annotations:
attribute_type:
tag: attribute_type
value: filter
curation_type:
tag: curation_type
value: ontology_hierarchy
description: 'Flag to denote this disease is a child/descendant of a disease that
is manually curated to be a phenotypic series according to OMIM (https://www.omim.org/),
one of the most important genetic disease authorities in the world. If it is a
descendant of a phenotypic series, it most likely is a proper genetic disease entity
(or subtype).
'
from_schema: https://w3id.org/everycure-org/matrix-schema
see_also:
- https://github.com/everycure-org/matrix-disease-list/blob/main/sparql/matrix-disease-list-filters.sparql
- https://www.omim.org/
- https://www.omim.org/help/faq#1_14
- http://dev.everycure.org/schema/is_omimps
rank: 1000
alias: is_omimps_descendant
domain_of:
- DiseaseListEntry
range: boolean