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is_omimps

URI: matrix_schema:is_omimps

Applicable to: DiseaseListEntry

Description

Flag to denote this disease 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. A Phenotypic Series is a grouping of genetic heterogeneity of similar phenotypes across the genome. __

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.

Schema developer documentation

LinkML source 
name: is_omimps
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 phenotypic series
  according to OMIM (https://www.omim.org/),  one of the most important genetic disease
  authorities in the world.  A Phenotypic Series is a grouping of genetic heterogeneity
  of similar phenotypes across the genome.

  '
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
rank: 1000
alias: is_omimps
domain_of:
- DiseaseListEntry
range: boolean