Class: GeneticCondition

A disease, or a set of one or more co-occurring phenotypes, typically controlled by a single locus with a defined inheritance pattern.

URI: SEPIO:0000219

Slots

Name	Range	Cardinality	Description	Info
associated_disease	Disease	0..*	A recognizible grouping of pathological observed phenotypes occuring from a common cause	.
has_phenotype	PhenotypicFeature	0..*	An expressed characteristic of an organism	.
has_gene	Gene	0..1	The gene associated with a genetic condition	.
inheritance_pattern	string	0..1	The manner in which a genetic condition is inherited	.
label	string	0..1	A name given to the resource	.
description	string	0..1	Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource.
.
comment	string	0..*	None	.

Usages

Identifier and Mapping Information

LinkML Specification

Direct

name: genetic condition
description: A disease, or a set of one or more co-occurring phenotypes, typically
  controlled by a single locus with a defined inheritance pattern.
from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
slots:
- associated disease
- has phenotype
- has gene
slot_usage:
  associated disease:
    name: associated disease
    multivalued: true
  has phenotype:
    name: has phenotype
    multivalued: true
  has gene:
    name: has gene
    description: The gene associated with a genetic condition
    slot_uri: SEPIO:0000278
attributes:
  inheritance_pattern:
    name: inheritance_pattern
    description: The manner in which a genetic condition is inherited
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: RO:0000091
  label:
    name: label
    description: A name given to the resource
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: rdfs:label
  description:
    name: description
    description: 'Description may include but is not limited to: an abstract, a table
      of contents, a graphical representation, or a free-text account of the resource.

      '
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: dc:description
  comment:
    name: comment
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    multivalued: true
class_uri: SEPIO:0000219

Induced

name: genetic condition
description: A disease, or a set of one or more co-occurring phenotypes, typically
  controlled by a single locus with a defined inheritance pattern.
from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
slot_usage:
  associated disease:
    name: associated disease
    multivalued: true
  has phenotype:
    name: has phenotype
    multivalued: true
  has gene:
    name: has gene
    description: The gene associated with a genetic condition
    slot_uri: SEPIO:0000278
attributes:
  inheritance_pattern:
    name: inheritance_pattern
    description: The manner in which a genetic condition is inherited
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: RO:0000091
    alias: inheritance_pattern
    owner: genetic condition
    range: string
  label:
    name: label
    description: A name given to the resource
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: rdfs:label
    alias: label
    owner: genetic condition
    range: string
  description:
    name: description
    description: 'Description may include but is not limited to: an abstract, a table
      of contents, a graphical representation, or a free-text account of the resource.

      '
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: dc:description
    alias: description
    owner: genetic condition
    range: string
  comment:
    name: comment
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    multivalued: true
    alias: comment
    owner: genetic condition
    range: string
  associated disease:
    name: associated disease
    description: A recognizible grouping of pathological observed phenotypes occuring
      from a common cause
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: sepio-cg:98901
    multivalued: true
    alias: associated_disease
    owner: genetic condition
    range: disease
  has phenotype:
    name: has phenotype
    description: An expressed characteristic of an organism
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: RO:0002200
    multivalued: true
    alias: has_phenotype
    owner: genetic condition
    range: phenotypic feature
  has gene:
    name: has gene
    description: The gene associated with a genetic condition
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    slot_uri: SEPIO:0000278
    alias: has_gene
    owner: genetic condition
    range: gene
class_uri: SEPIO:0000219