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Add environmental health, oncology, and EDoH value sets #35
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -0,0 +1,66 @@ | ||
| 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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| Original file line number | Diff line number | Diff line change | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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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 | ||||||||||||||
|
||||||||||||||
| is_a: PSEUDOAUTOSOMAL | |
| is_a: PSEUDOAUTOSOMAL | |
| license: MIT | |
| see_also: | |
| - ../AGENTS.md |
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[nitpick] Missing
license: MITandsee_alsofields at the end of the file. Other schema files in the repository include these fields for consistency.