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66 changes: 66 additions & 0 deletions src/valuesets/schema/chemistry/roles.yaml
Original file line number Diff line number Diff line change
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name: roles
title: Chemical and Biological Roles
description: >-
Value sets for chemical and biological roles that molecular entities can play,
based on the ChEBI ontology role hierarchy.
id: https://w3id.org/linkml/valuesets/chemistry/roles
imports:
- linkml:types
prefixes:
linkml: https://w3id.org/linkml/
valuesets: https://w3id.org/valuesets/
CHEBI: http://purl.obolibrary.org/obo/CHEBI_
rdfs: http://www.w3.org/2000/01/rdf-schema#
orcid: https://orcid.org/
valuesets_meta: https://w3id.org/valuesets/meta/
default_prefix: valuesets
slots:
chemical_role:
description: A role played by a molecular entity within a chemical context
range: ChemicalRole
biological_role:
description: A role played by a molecular entity within a biological context
range: BiologicalRole
enums:
ChemicalRole:
title: Chemical Role
description: >-
Roles played by molecular entities within a chemical context, dynamically
populated from ChEBI. Includes roles such as catalyst, reagent, solvent,
indicator, buffer, and other chemical functions.
status: STANDARD
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
stewards: https://www.ebi.ac.uk/chebi
publishers: https://www.ebi.ac.uk/chebi
reachable_from:
source_nodes:
- CHEBI:51086
is_direct: false
relationship_types:
- rdfs:subClassOf
BiologicalRole:
title: Biological Role
description: >-
Roles played by molecular entities within a biological context, dynamically
populated from ChEBI. Includes biochemical roles, pharmacological roles,
physiological roles, and other biological functions.
status: STANDARD
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
stewards: https://www.ebi.ac.uk/chebi
publishers: https://www.ebi.ac.uk/chebi
reachable_from:
source_nodes:
- CHEBI:24432
is_direct: false
relationship_types:
- rdfs:subClassOf
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[nitpick] Missing license: MIT and see_also fields at the end of the file. Other schema files in the repository include these fields for consistency.

Suggested change
- rdfs:subClassOf
- rdfs:subClassOf
license: MIT
see_also: ../AGENTS.md

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134 changes: 134 additions & 0 deletions src/valuesets/schema/clinical/genetics.yaml
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name: genetics
title: Clinical Genetics Value Sets
description: Value sets for clinical genetics including modes of inheritance
id: https://w3id.org/linkml/valuesets/clinical/genetics
imports:
- linkml:types
prefixes:
linkml: https://w3id.org/linkml/
valuesets: https://w3id.org/valuesets/
HP: http://purl.obolibrary.org/obo/HP_
orcid: https://orcid.org/
valuesets_meta: https://w3id.org/valuesets/meta/
default_prefix: valuesets
slots:
mode_of_inheritance:
description: The mode of inheritance for a genetic condition
range: ModeOfInheritance
enums:
ModeOfInheritance:
title: Mode of Inheritance
description: >-
Patterns of genetic inheritance describing how traits or disorders are passed
between generations. Based on HP:0000005 (Mode of inheritance).
status: STANDARD
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
stewards: https://hpo.jax.org
publishers: https://hpo.jax.org
permissible_values:
AUTOSOMAL_DOMINANT:
title: Autosomal dominant inheritance
description: >-
A mode of inheritance that is observed for traits related to a gene
encoded on one of the autosomes in which a trait manifests in heterozygotes.
meaning: HP:0000006
AUTOSOMAL_RECESSIVE:
title: Autosomal recessive inheritance
description: >-
A mode of inheritance that is observed for traits related to a gene
encoded on one of the autosomes in which a trait manifests in individuals
with two pathogenic alleles.
meaning: HP:0000007
X_LINKED:
title: X-linked inheritance
description: >-
A mode of inheritance that is observed for traits related to a gene
encoded on the X chromosome.
meaning: HP:0001417
X_LINKED_DOMINANT:
title: X-linked dominant inheritance
description: >-
A mode of inheritance that is observed for dominant traits related to
a gene encoded on the X chromosome.
meaning: HP:0001423
is_a: X_LINKED
X_LINKED_RECESSIVE:
title: X-linked recessive inheritance
description: >-
A mode of inheritance that is observed for recessive traits related to
a gene encoded on the X chromosome.
meaning: HP:0001419
is_a: X_LINKED
Y_LINKED:
title: Y-linked inheritance
description: >-
A mode of inheritance that is observed for traits related to a gene
encoded on the Y chromosome.
meaning: HP:0001450
MITOCHONDRIAL:
title: Mitochondrial inheritance
description: >-
A mode of inheritance that is observed for traits related to a gene
encoded on the mitochondrial genome. Maternally inherited.
meaning: HP:0001427
MENDELIAN:
title: Mendelian inheritance
description: >-
A mode of inheritance of diseases whose pathophysiology can be traced
back to deleterious variants in a single gene.
meaning: HP:0034345
NON_MENDELIAN:
title: Non-Mendelian inheritance
description: >-
A mode of inheritance that depends on genetic determinants in more than one gene.
meaning: HP:0001426
DIGENIC:
title: Digenic inheritance
description: >-
A type of multifactorial inheritance governed by the simultaneous action
of two gene loci.
meaning: HP:0010984
is_a: NON_MENDELIAN
OLIGOGENIC:
title: Oligogenic inheritance
description: >-
A type of multifactorial inheritance governed by the simultaneous action
of a few gene loci (typically three).
meaning: HP:0010983
is_a: NON_MENDELIAN
POLYGENIC:
title: Polygenic inheritance
description: >-
A mode of inheritance that depends on a mixture of major and minor genetic
determinants possibly together with environmental factors.
meaning: HP:0010982
is_a: NON_MENDELIAN
SEMIDOMINANT:
title: Semidominant inheritance
description: >-
A mode of inheritance for traits that can manifest in both monoallelic
and biallelic states, with similar or differing phenotype severity.
meaning: HP:0032113
PSEUDOAUTOSOMAL:
title: Pseudoautosomal inheritance
description: >-
A pattern of inheritance observed for alleles in the X-Y identical regions,
resembling autosomal inheritance.
meaning: HP:0034339
PSEUDOAUTOSOMAL_DOMINANT:
title: Pseudoautosomal dominant inheritance
description: >-
A type of pseudoautosomal inheritance that is dominant.
meaning: HP:0034340
is_a: PSEUDOAUTOSOMAL
PSEUDOAUTOSOMAL_RECESSIVE:
title: Pseudoautosomal recessive inheritance
description: >-
A type of pseudoautosomal inheritance that is recessive.
meaning: HP:0034341
is_a: PSEUDOAUTOSOMAL
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[nitpick] Missing license: MIT and see_also fields at the end of the file. Other schema files in the repository include these fields for consistency.

Suggested change
is_a: PSEUDOAUTOSOMAL
is_a: PSEUDOAUTOSOMAL
license: MIT
see_also:
- ../AGENTS.md

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