name: BiolinkSubset
id: biolink-subset
imports:
- linkml:types
prefixes:
AGRKB:
prefix_prefix: AGRKB
prefix_reference: https://www.alliancegenome.org/
apollo:
prefix_prefix: apollo
prefix_reference: https://github.com/GMOD/Apollo
AspGD:
prefix_prefix: AspGD
prefix_reference: http://www.aspergillusgenome.org/cgi-bin/locus.pl?dbid=
biolink:
prefix_prefix: biolink
prefix_reference: https://w3id.org/biolink/vocab/
bioschemas:
prefix_prefix: bioschemas
prefix_reference: https://bioschemas.org/
linkml:
prefix_prefix: linkml
prefix_reference: https://w3id.org/linkml/
CAID:
prefix_prefix: CAID
prefix_reference: http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=
CHADO:
prefix_prefix: CHADO
prefix_reference: http://gmod.org/wiki/Chado/
ChemBank:
prefix_prefix: ChemBank
prefix_reference: http://chembank.broadinstitute.org/chemistry/viewMolecule.htm?cbid=
CHEMBL.MECHANISM:
prefix_prefix: CHEMBL.MECHANISM
prefix_reference: https://www.ebi.ac.uk/chembl/mechanism/inspect/
CID:
prefix_prefix: CID
prefix_reference: http://pubchem.ncbi.nlm.nih.gov/compound/
CLINVAR:
prefix_prefix: CLINVAR
prefix_reference: http://identifiers.org/clinvar
COAR_RESOURCE:
prefix_prefix: COAR_RESOURCE
prefix_reference: http://purl.org/coar/resource_type/
COG:
prefix_prefix: COG
prefix_reference: https://www.ncbi.nlm.nih.gov/research/cog-project/
ComplexPortal:
prefix_prefix: ComplexPortal
prefix_reference: https://www.ebi.ac.uk/complexportal/complex/
CPT:
prefix_prefix: CPT
prefix_reference: https://www.ama-assn.org/practice-management/cpt/
CTD.CHEMICAL:
prefix_prefix: CTD.CHEMICAL
prefix_reference: http://ctdbase.org/detail.go?type=chem&acc=
CTD.DISEASE:
prefix_prefix: CTD.DISEASE
prefix_reference: http://ctdbase.org/detail.go?type=disease&db=MESH&acc=
CTD.GENE:
prefix_prefix: CTD.GENE
prefix_reference: http://ctdbase.org/detail.go?type=gene&acc=
CTD:
prefix_prefix: CTD
prefix_reference: http://ctdbase.org/
DGIdb:
prefix_prefix: DGIdb
prefix_reference: https://www.dgidb.org/interaction_types
dcat:
prefix_prefix: dcat
prefix_reference: http://www.w3.org/ns/dcat#
dct:
prefix_prefix: dct
prefix_reference: http://purl.org/dc/terms/
dcid:
prefix_prefix: dcid
prefix_reference: https://datacommons.org/browser/
doi:
prefix_prefix: doi
prefix_reference: https://doi.org/
DOID-PROPERTY:
prefix_prefix: DOID-PROPERTY
prefix_reference: http://purl.obolibrary.org/obo/doid#
DrugCentral:
prefix_prefix: DrugCentral
prefix_reference: http://drugcentral.org/drugcard/
ECTO:
prefix_prefix: ECTO
prefix_reference: http://purl.obolibrary.org/obo/ECTO_
EDAM-DATA:
prefix_prefix: EDAM-DATA
prefix_reference: http://edamontology.org/data_
EDAM-FORMAT:
prefix_prefix: EDAM-FORMAT
prefix_reference: http://edamontology.org/format_
EDAM-OPERATION:
prefix_prefix: EDAM-OPERATION
prefix_reference: http://edamontology.org/operation_
EDAM-TOPIC:
prefix_prefix: EDAM-TOPIC
prefix_reference: http://edamontology.org/topic_
EFO:
prefix_prefix: EFO
prefix_reference: http://www.ebi.ac.uk/efo/EFO_
ExO:
prefix_prefix: ExO
prefix_reference: http://purl.obolibrary.org/obo/ExO_
fabio:
prefix_prefix: fabio
prefix_reference: http://purl.org/spar/fabio/
foaf:
prefix_prefix: foaf
prefix_reference: http://xmlns.com/foaf/0.1/
foodb.compound:
prefix_prefix: foodb.compound
prefix_reference: http://foodb.ca/compounds/
foodb.food:
prefix_prefix: foodb.food
prefix_reference: http://foodb.ca/foods/
FYECO:
prefix_prefix: FYECO
prefix_reference: https://www.pombase.org/term/
FYPO:
prefix_prefix: FYPO
prefix_reference: http://purl.obolibrary.org/obo/FYPO_
gff3:
prefix_prefix: gff3
prefix_reference: https://github.com/The-Sequence-Ontology/Specifications/blob/master/gff3.md#
GOREL:
prefix_prefix: GOREL
prefix_reference: http://purl.obolibrary.org/obo/GOREL_
GOP:
prefix_prefix: GOP
prefix_reference: http://purl.obolibrary.org/obo/go#
gpi:
prefix_prefix: gpi
prefix_reference: https://github.com/geneontology/go-annotation/blob/master/specs/gpad-gpi-2-0.md#
GSID:
prefix_prefix: GSID
prefix_reference: https://scholar.google.com/citations?user=
GTEx:
prefix_prefix: GTEx
prefix_reference: https://www.gtexportal.org/home/gene/
GTOPDB:
prefix_prefix: GTOPDB
prefix_reference: https://www.guidetopharmacology.org/GRAC/LigandDisplayForward?ligandId=
gtpo:
prefix_prefix: gtpo
prefix_reference: https://rdf.guidetopharmacology.org/ns/gtpo#
HANCESTRO:
prefix_prefix: HANCESTRO
prefix_reference: http://www.ebi.ac.uk/ancestro/ancestro_
HCPCS:
prefix_prefix: HCPCS
prefix_reference: http://purl.bioontology.org/ontology/HCPCS/
HsapDv:
prefix_prefix: HsapDv
prefix_reference: http://purl.obolibrary.org/obo/HsapDv_
ICD10:
prefix_prefix: ICD10
prefix_reference: https://icd.codes/icd9cm/
ICD9:
prefix_prefix: ICD9
prefix_reference: http://translator.ncats.nih.gov/ICD9_
interpro:
prefix_prefix: interpro
prefix_reference: https://www.ebi.ac.uk/interpro/entry/
INO:
prefix_prefix: INO
prefix_reference: http://purl.obolibrary.org/obo/INO_
isbn:
prefix_prefix: isbn
prefix_reference: https://www.isbn-international.org/identifier/
isni:
prefix_prefix: isni
prefix_reference: https://isni.org/isni/
issn:
prefix_prefix: issn
prefix_reference: https://portal.issn.org/resource/ISSN/
ncats.drug:
prefix_prefix: ncats.drug
prefix_reference: https://drugs.ncats.io/drug/
KEGG.BRITE:
prefix_prefix: KEGG.BRITE
prefix_reference: 'https://bioregistry.io/kegg.brite:'
KEGG:
prefix_prefix: KEGG
prefix_reference: http://www.kegg.jp/entry/
KEGG.GENES:
prefix_prefix: KEGG.GENES
prefix_reference: 'https://bioregistry.io/kegg.genes:bsu:'
KEGG.PATHWAY:
prefix_prefix: KEGG.PATHWAY
prefix_reference: 'https://bioregistry.io/kegg.pathway:'
KEGG.RCLASS:
prefix_prefix: KEGG.RCLASS
prefix_reference: 'https://www.genome.jp/dbget-bin/www_bget?rc:'
LOINC:
prefix_prefix: LOINC
prefix_reference: http://loinc.org/rdf/
MAXO:
prefix_prefix: MAXO
prefix_reference: http://purl.obolibrary.org/obo/MAXO_
medgen:
prefix_prefix: medgen
prefix_reference: https://www.ncbi.nlm.nih.gov/medgen/
metacyc.reaction:
prefix_prefix: metacyc.reaction
prefix_reference: 'http://identifiers.org/metacyc.reaction:'
METANETX.REACTION:
prefix_prefix: METANETX.REACTION
prefix_reference: https://www.metanetx.org/equa_info/
MESH:
prefix_prefix: MESH
prefix_reference: http://id.nlm.nih.gov/mesh/
MI:
prefix_prefix: MI
prefix_reference: http://purl.obolibrary.org/obo/MI_
mirbase:
prefix_prefix: mirbase
prefix_reference: http://identifiers.org/mirbase
mmmp.biomaps:
prefix_prefix: mmmp.biomaps
prefix_reference: 'https://bioregistry.io/mmmp.biomaps:'
MmusDv:
prefix_prefix: MmusDv
prefix_reference: http://purl.obolibrary.org/obo/MMUSDV_
MSigDB:
prefix_prefix: MSigDB
prefix_reference: https://www.gsea-msigdb.org/gsea/msigdb/
NBO-PROPERTY:
prefix_prefix: NBO-PROPERTY
prefix_reference: http://purl.obolibrary.org/obo/nbo#
ncats.bioplanet:
prefix_prefix: ncats.bioplanet
prefix_reference: https://tripod.nih.gov/bioplanet/detail.jsp?pid=
NCBIGene:
prefix_prefix: NCBIGene
prefix_reference: http://identifiers.org/ncbigene/
NCIT-OBO:
prefix_prefix: NCIT-OBO
prefix_reference: http://purl.obolibrary.org/obo/ncit#
NDDF:
prefix_prefix: NDDF
prefix_reference: http://purl.bioontology.org/ontology/NDDF/
NLMID:
prefix_prefix: NLMID
prefix_reference: https://www.ncbi.nlm.nih.gov/nlmcatalog/?term=
OBAN:
prefix_prefix: OBAN
prefix_reference: http://purl.org/oban/
OMIM.PS:
prefix_prefix: OMIM.PS
prefix_reference: https://www.omim.org/phenotypicSeries/
ORCID:
prefix_prefix: ORCID
prefix_reference: https://orcid.org/
orphanet:
prefix_prefix: orphanet
prefix_reference: http://www.orpha.net/ORDO/Orphanet_
os:
prefix_prefix: os
prefix_reference: https://github.com/cmungall/owlstar/blob/master/owlstar.ttl
PANTHER.FAMILY:
prefix_prefix: PANTHER.FAMILY
prefix_reference: http://www.pantherdb.org/panther/family.do?clsAccession=
PathWhiz:
prefix_prefix: PathWhiz
prefix_reference: http://smpdb.ca/pathways/#
pav:
prefix_prefix: pav
prefix_reference: http://purl.org/pav/
PHARMGKB.DRUG:
prefix_prefix: PHARMGKB.DRUG
prefix_reference: https://www.pharmgkb.org/chemical/
PHARMGKB.DISEASE:
prefix_prefix: PHARMGKB.DISEASE
prefix_reference: https://www.pharmgkb.org/disease/
PHARMGKB.GENE:
prefix_prefix: PHARMGKB.GENE
prefix_reference: https://www.pharmgkb.org/gene/
PHARMGKB.PATHWAYS:
prefix_prefix: PHARMGKB.PATHWAYS
prefix_reference: https://www.pharmgkb.org/pathway/
PHARMGKB.VARIANT:
prefix_prefix: PHARMGKB.VARIANT
prefix_reference: https://www.pharmgkb.org/variant/
PHAROS:
prefix_prefix: PHAROS
prefix_reference: http://pharos.nih.gov
PomBase:
prefix_prefix: PomBase
prefix_reference: https://www.pombase.org/gene/
prov:
prefix_prefix: prov
prefix_reference: http://www.w3.org/ns/prov#
qud:
prefix_prefix: qud
prefix_reference: http://qudt.org/1.1/schema/qudt#
REPODB:
prefix_prefix: REPODB
prefix_reference: http://apps.chiragjpgroup.org/repoDB/
ResearchID:
prefix_prefix: ResearchID
prefix_reference: https://publons.com/researcher/
RO:
prefix_prefix: RO
prefix_reference: http://purl.obolibrary.org/obo/RO_
RXNORM:
prefix_prefix: RXNORM
prefix_reference: http://purl.bioontology.org/ontology/RXNORM/
RXCUI:
prefix_prefix: RXCUI
prefix_reference: https://mor.nlm.nih.gov/RxNav/search?searchBy=RXCUI&searchTerm=
schema:
prefix_prefix: schema
prefix_reference: http://schema.org/
ScopusID:
prefix_prefix: ScopusID
prefix_reference: https://www.scopus.com/authid/detail.uri?authorId=
SEED.REACTION:
prefix_prefix: SEED.REACTION
prefix_reference: https://modelseed.org/biochem/reactions/
SEMMEDDB:
prefix_prefix: SEMMEDDB
prefix_reference: https://skr3.nlm.nih.gov/SemMedDB
SIO:
prefix_prefix: SIO
prefix_reference: http://semanticscience.org/resource/SIO_
SNOMEDCT:
prefix_prefix: SNOMEDCT
prefix_reference: http://snomed.info/id/
SPDI:
prefix_prefix: SPDI
prefix_reference: https://api.ncbi.nlm.nih.gov/variation/v0/spdi/
UBERGRAPH:
prefix_prefix: UBERGRAPH
prefix_reference: http://translator.renci.org/ubergraph-axioms.ofn#
UBERON_CORE:
prefix_prefix: UBERON_CORE
prefix_reference: http://purl.obolibrary.org/obo/uberon/core#
UBERON_NONAMESPACE:
prefix_prefix: UBERON_NONAMESPACE
prefix_reference: http://purl.obolibrary.org/obo/core#
STY:
prefix_prefix: STY
prefix_reference: http://purl.bioontology.org/ontology/STY/
UMLSSG:
prefix_prefix: UMLSSG
prefix_reference: https://lhncbc.nlm.nih.gov/semanticnetwork/download/sg_archive/SemGroups-v04.txt
UniProtKB:
prefix_prefix: UniProtKB
prefix_reference: http://purl.uniprot.org/uniprot/
UNIPROT.ISOFORM:
prefix_prefix: UNIPROT.ISOFORM
prefix_reference: http://purl.uniprot.org/isoforms/
VANDF:
prefix_prefix: VANDF
prefix_reference: https://www.nlm.nih.gov/research/umls/sourcereleasedocs/current/VANDF/
UO-PROPERTY:
prefix_prefix: UO-PROPERTY
prefix_reference: http://purl.obolibrary.org/obo/uo#
VMC:
prefix_prefix: VMC
prefix_reference: https://github.com/ga4gh/vr-spec/
WBls:
prefix_prefix: WBls
prefix_reference: http://purl.obolibrary.org/obo/WBls_
WBbt:
prefix_prefix: WBbt
prefix_reference: http://purl.obolibrary.org/obo/WBbt_
WBVocab:
prefix_prefix: WBVocab
prefix_reference: http://bio2rdf.org/wormbase_vocabulary
WIKIDATA:
prefix_prefix: WIKIDATA
prefix_reference: https://www.wikidata.org/entity/
WIKIDATA_PROPERTY:
prefix_prefix: WIKIDATA_PROPERTY
prefix_reference: https://www.wikidata.org/prop/
wgs:
prefix_prefix: wgs
prefix_reference: http://www.w3.org/2003/01/geo/wgs84_pos
XPO:
prefix_prefix: XPO
prefix_reference: http://purl.obolibrary.org/obo/XPO_
Xenbase:
prefix_prefix: Xenbase
prefix_reference: http://www.xenbase.org/gene/showgene.do?method=display&geneId=
PMC:
prefix_prefix: PMC
prefix_reference: http://europepmc.org/articles/PMC
default_prefix: biolink-subset/
default_range: string
types:
string:
name: string
description: A character string
notes:
- In RDF serializations, a slot with range of string is treated as a literal or
type xsd:string. If you are authoring schemas in LinkML YAML, the type is referenced
with the lower case "string".
from_schema: https://w3id.org/linkml/types
exact_mappings:
- schema:Text
base: str
uri: xsd:string
integer:
name: integer
description: An integer
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "integer".
from_schema: https://w3id.org/linkml/types
exact_mappings:
- schema:Integer
base: int
uri: xsd:integer
boolean:
name: boolean
description: A binary (true or false) value
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "boolean".
from_schema: https://w3id.org/linkml/types
exact_mappings:
- schema:Boolean
base: Bool
uri: xsd:boolean
repr: bool
float:
name: float
description: A real number that conforms to the xsd:float specification
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "float".
from_schema: https://w3id.org/linkml/types
exact_mappings:
- schema:Float
base: float
uri: xsd:float
double:
name: double
description: A real number that conforms to the xsd:double specification
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "double".
from_schema: https://w3id.org/linkml/types
close_mappings:
- schema:Float
base: float
uri: xsd:double
decimal:
name: decimal
description: A real number with arbitrary precision that conforms to the xsd:decimal
specification
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "decimal".
from_schema: https://w3id.org/linkml/types
broad_mappings:
- schema:Number
base: Decimal
uri: xsd:decimal
time:
name: time
description: A time object represents a (local) time of day, independent of any
particular day
notes:
- URI is dateTime because OWL reasoners do not work with straight date or time
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "time".
from_schema: https://w3id.org/linkml/types
exact_mappings:
- schema:Time
base: XSDTime
uri: xsd:time
repr: str
date:
name: date
description: a date (year, month and day) in an idealized calendar
notes:
- URI is dateTime because OWL reasoners don't work with straight date or time
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "date".
from_schema: https://w3id.org/linkml/types
exact_mappings:
- schema:Date
base: XSDDate
uri: xsd:date
repr: str
datetime:
name: datetime
description: The combination of a date and time
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "datetime".
from_schema: https://w3id.org/linkml/types
exact_mappings:
- schema:DateTime
base: XSDDateTime
uri: xsd:dateTime
repr: str
date_or_datetime:
name: date_or_datetime
description: Either a date or a datetime
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "date_or_datetime".
from_schema: https://w3id.org/linkml/types
base: str
uri: linkml:DateOrDatetime
repr: str
uriorcurie:
name: uriorcurie
description: a URI or a CURIE
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "uriorcurie".
from_schema: https://w3id.org/linkml/types
base: URIorCURIE
uri: xsd:anyURI
repr: str
curie:
name: curie
conforms_to: https://www.w3.org/TR/curie/
description: a compact URI
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "curie".
comments:
- in RDF serializations this MUST be expanded to a URI
- in non-RDF serializations MAY be serialized as the compact representation
from_schema: https://w3id.org/linkml/types
base: Curie
uri: xsd:string
repr: str
uri:
name: uri
conforms_to: https://www.ietf.org/rfc/rfc3987.txt
description: a complete URI
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "uri".
comments:
- in RDF serializations a slot with range of uri is treated as a literal or type
xsd:anyURI unless it is an identifier or a reference to an identifier, in which
case it is translated directly to a node
from_schema: https://w3id.org/linkml/types
close_mappings:
- schema:URL
base: URI
uri: xsd:anyURI
repr: str
ncname:
name: ncname
description: Prefix part of CURIE
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "ncname".
from_schema: https://w3id.org/linkml/types
base: NCName
uri: xsd:string
repr: str
objectidentifier:
name: objectidentifier
description: A URI or CURIE that represents an object in the model.
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "objectidentifier".
comments:
- Used for inheritance and type checking
from_schema: https://w3id.org/linkml/types
base: ElementIdentifier
uri: shex:iri
repr: str
nodeidentifier:
name: nodeidentifier
description: A URI, CURIE or BNODE that represents a node in a model.
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "nodeidentifier".
from_schema: https://w3id.org/linkml/types
base: NodeIdentifier
uri: shex:nonLiteral
repr: str
jsonpointer:
name: jsonpointer
conforms_to: https://datatracker.ietf.org/doc/html/rfc6901
description: A string encoding a JSON Pointer. The value of the string MUST conform
to JSON Point syntax and SHOULD dereference to a valid object within the current
instance document when encoded in tree form.
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "jsonpointer".
from_schema: https://w3id.org/linkml/types
base: str
uri: xsd:string
repr: str
jsonpath:
name: jsonpath
conforms_to: https://www.ietf.org/archive/id/draft-goessner-dispatch-jsonpath-00.html
description: A string encoding a JSON Path. The value of the string MUST conform
to JSON Point syntax and SHOULD dereference to zero or more valid objects within
the current instance document when encoded in tree form.
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "jsonpath".
from_schema: https://w3id.org/linkml/types
base: str
uri: xsd:string
repr: str
sparqlpath:
name: sparqlpath
conforms_to: https://www.w3.org/TR/sparql11-query/#propertypaths
description: A string encoding a SPARQL Property Path. The value of the string
MUST conform to SPARQL syntax and SHOULD dereference to zero or more valid objects
within the current instance document when encoded as RDF.
notes:
- If you are authoring schemas in LinkML YAML, the type is referenced with the
lower case "sparqlpath".
from_schema: https://w3id.org/linkml/types
base: str
uri: xsd:string
repr: str
chemical formula value:
name: chemical formula value
description: A chemical formula
notes:
- Should be implemented as a stronger type
from_schema: https://w3id.org/biolink/biolink-model
base: str
uri: xsd:string
iri type:
name: iri type
description: An IRI
from_schema: https://w3id.org/biolink/biolink-model
typeof: uriorcurie
uri: xsd:string
label type:
name: label type
description: A string that provides a human-readable name for an entity
from_schema: https://w3id.org/biolink/biolink-model
typeof: string
uri: xsd:string
predicate type:
name: predicate type
description: A CURIE from the biolink related_to hierarchy. For example, biolink:related_to,
biolink:causes, biolink:treats.
from_schema: https://w3id.org/biolink/biolink-model
typeof: uriorcurie
uri: xsd:string
narrative text:
name: narrative text
description: A string that provides a human-readable description of something
from_schema: https://w3id.org/biolink/biolink-model
typeof: string
uri: xsd:string
symbol type:
name: symbol type
from_schema: https://w3id.org/biolink/biolink-model
typeof: string
uri: xsd:string
frequency value:
name: frequency value
from_schema: https://w3id.org/biolink/biolink-model
typeof: string
uri: UO:0000105
percentage frequency value:
name: percentage frequency value
from_schema: https://w3id.org/biolink/biolink-model
typeof: double
uri: UO:0000187
quotient:
name: quotient
from_schema: https://w3id.org/biolink/biolink-model
aliases:
- ratio
typeof: double
uri: UO:0010006
unit:
name: unit
id_prefixes:
- UO
from_schema: https://w3id.org/biolink/biolink-model
exact_mappings:
- qud:Unit
typeof: string
uri: UO:0000000
time type:
name: time type
from_schema: https://w3id.org/biolink/biolink-model
typeof: time
uri: xsd:time
biological sequence:
name: biological sequence
from_schema: https://w3id.org/biolink/biolink-model
typeof: string
uri: xsd:string
classes:
Gene:
name: Gene
id_prefixes:
- NCBIGene
- ENSEMBL
- HGNC
- MGI
- ZFIN
- dictyBase
- WB
- WormBase
- FB
- RGD
- SGD
- PomBase
- OMIM
- KEGG.GENES
- UMLS
- Xenbase
- AspGD
- PHARMGKB.GENE
description: A region (or regions) that includes all of the sequence elements
necessary to encode a functional transcript. A gene locus may include regulatory
regions, transcribed regions and/or other functional sequence regions.
in_subset:
- translator_minimal
- model_organism_database
exact_mappings:
- SO:0000704
- SIO:010035
- WIKIDATA:Q7187
- dcid:Gene
narrow_mappings:
- bioschemas:gene
broad_mappings:
- NCIT:C45822
attributes:
symbol:
name: symbol
description: Symbol for a particular thing
exact_mappings:
- AGRKB:symbol
- gpi:DB_Object_Symbol
is_a: node property
domain: named thing
xref:
name: xref
description: A database cross reference or alternative identifier for a NamedThing
or edge between two NamedThings. This property should point to a database
record or webpage that supports the existence of the edge, or gives more
detail about the edge. This property can be used on a node or edge to provide
multiple URIs or CURIE cross references.
in_subset:
- translator_minimal
aliases:
- dbxref
- Dbxref
- DbXref
- record_url
- source_record_urls
narrow_mappings:
- gff3:Dbxref
- gpi:DB_Xrefs
domain: named thing
range: uriorcurie
multivalued: true
Disease:
name: Disease
id_prefixes:
- MONDO
- DOID
- OMIM
- OMIM.PS
- orphanet
- EFO
- UMLS
- MESH
- MEDDRA
- NCIT
- SNOMEDCT
- medgen
- ICD10
- ICD9
- KEGG.DISEASE
- HP
- MP
- PHARMGKB.DISEASE
description: A disorder of structure or function, especially one that produces
specific signs, phenotypes or symptoms or that affects a specific location and
is not simply a direct result of physical injury. A disposition to undergo
pathological processes that exists in an organism because of one or more disorders
in that organism.
in_subset:
- model_organism_database
- translator_minimal
aliases:
- condition
- disorder
- medical condition
exact_mappings:
- MONDO:0000001
- DOID:4
- NCIT:C2991
- WIKIDATA:Q12136
- SIO:010299
- UMLSSG:DISO
- STY:T047
- dcid:Disease
narrow_mappings:
- STY:T019
- STY:T020
- STY:T048
- STY:T049
- STY:T191
- MONDO:0042489
CaseToPhenotypicFeatureAssociation:
name: CaseToPhenotypicFeatureAssociation
description: An association between a case (e.g. individual patient) and a phenotypic
feature in which the individual has or has had the phenotype.
defining_slots:
- subject
- object
GeneToDiseaseAssociation:
name: GeneToDiseaseAssociation
comments:
- NCIT:R176 refers to the inverse relationship
exact_mappings:
- SIO:000983
close_mappings:
- dcid:DiseaseGeneAssociation
defining_slots:
- subject
- object
GeneToPhenotypicFeatureAssociation:
name: GeneToPhenotypicFeatureAssociation
exact_mappings:
- WBVocab:Gene-Phenotype-Association
defining_slots:
- subject
- object
Case:
name: Case
description: An individual (human) organism that has a patient role in some clinical
context.
aliases:
- patient
- proband
PhenotypicFeature:
name: PhenotypicFeature
id_prefixes:
- HP
- EFO
- NCIT
- UMLS
- MEDDRA
- MP
- ZP
- UPHENO
- APO
- FBcv
- WBPhenotype
- SNOMEDCT
- MESH
- XPO
- FYPO
- TO
description: A combination of entity and quality that makes up a phenotyping statement.
An observable characteristic of an individual resulting from the interaction
of its genotype with its molecular and physical environment.
examples:
- value: MP:0001262
description: decreased body weight
in_subset:
- model_organism_database
aliases:
- sign
- symptom
- phenotype
- trait
- endophenotype
exact_mappings:
- UPHENO:0001001
- SIO:010056
- WIKIDATA:Q104053
- UMLS:C4021819
- NCIT:C16977
- SNOMEDCT:8116006
- MESH:D010641
narrow_mappings:
- STY:T184
- WIKIDATA:Q169872
- WIKIDATA:Q25203551
- ZP:00000000
- FBcv:0001347
- HP:0000118
- MP:0000001
- WBPhenotype:0000886
- XPO:00000000
- FYPO:0000001
- APO:0000017
- TO:0000387
- STY:T190
broad_mappings:
- BFO:0000019
- PATO:0000001