is_orphanet_disorder
URI: matrix_schema:is_orphanet_disorder
Applicable to: DiseaseListEntry
Description
Flag to denote this disease is manually curated to be a disease according to Orphanet (https://www.orpha.net/), one of the most important rare disease authorities in the world. A disorder according to Orphanet usually corresponds to a proper disease entity, not a grouping or a 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://www.orpha.net/
- https://www.orpha.net/pdfs/orphacom/cahiers/docs/GB/eproc_disease_inventory_R1_Nom_Dis_EP_04.pdf
- https://github.com/everycure-org/matrix-disease-list/blob/main/sparql/matrix-disease-list-filters.sparql
Schema developer documentation
LinkML source
name: is_orphanet_disorder
annotations:
attribute_type:
tag: attribute_type
value: filter
curation_type:
tag: curation_type
value: manual_mondo
description: 'Flag to denote this disease is manually curated to be a disease according
to Orphanet (https://www.orpha.net/), one of the most important rare disease authorities
in the world. A disorder according to Orphanet usually corresponds to a proper
disease entity, not a grouping or a subtype.
'
from_schema: https://w3id.org/everycure-org/matrix-schema
see_also:
- https://www.orpha.net/
- https://www.orpha.net/pdfs/orphacom/cahiers/docs/GB/eproc_disease_inventory_R1_Nom_Dis_EP_04.pdf
- https://github.com/everycure-org/matrix-disease-list/blob/main/sparql/matrix-disease-list-filters.sparql
rank: 1000
alias: is_orphanet_disorder
domain_of:
- DiseaseListEntry
range: boolean