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Class: Disease

Disease entity. Encompasses ALS (MONDO:0007743), related neurodegenerative disorders (FTD, PLS, PMA, SMA), and comorbidities. Follows MONDO disease hierarchy via is_a relationships.

URI: biolink:Disease

 classDiagram
    class Disease
    click Disease href "../Disease/"
      DiseaseOrPhenotype <|-- Disease
        click DiseaseOrPhenotype href "../DiseaseOrPhenotype/"


      Disease <|-- DiseaseSubtype
        click DiseaseSubtype href "../DiseaseSubtype/"


      Disease : comment

      Disease : definition

      Disease : disease_type





        Disease --> "0..1" DiseaseTypeEnum : disease_type
        click DiseaseTypeEnum href "../DiseaseTypeEnum/"



      Disease : hpo_id

      Disease : icd10_code

      Disease : id

      Disease : ingest_date

      Disease : is_obsolete

      Disease : label

      Disease : last_updated

      Disease : mondo_id

      Disease : name

      Disease : omim_id

      Disease : onset_type





        Disease --> "0..1" OnsetTypeEnum : onset_type
        click OnsetTypeEnum href "../OnsetTypeEnum/"



      Disease : orphanet_id

      Disease : source

      Disease : source_version

      Disease : synonym

      Disease : umls_cui

      Disease : xref

Inheritance

Class Properties

Property Value
Class URI biolink:Disease

Slots

Name Cardinality and Range Description Inheritance
mondo_id 1
MondoIdentifier		 direct
name 0..1
String		 Disease name (preferred from MONDO) direct
disease_type 0..1
DiseaseTypeEnum		 direct
onset_type 0..1
OnsetTypeEnum		 direct
umls_cui 0..1
String		 UMLS Concept Unique Identifier direct
omim_id 0..1
String		 OMIM (Online Mendelian Inheritance in Man) ID direct
orphanet_id 0..1
String		 Orphanet rare disease identifier direct
icd10_code 0..1
String		 ICD-10-CM code for billing/clinical use direct
hpo_id 0..1
HpoIdentifier		 HPO cross-reference DiseaseOrPhenotype
source_version 0..1
String		 Source database/ontology version OntologyClass
ingest_date 0..1
String		 When entity was imported into ALS-KG OntologyClass
id 1
String		 Persistent unique identifier (IRI) NamedEntity
label 1
String		 Preferred human-readable label NamedEntity
definition 0..1
String		 Formal textual definition NamedEntity
synonym 0..1
String		 Alternative names NamedEntity
xref 0..1
String		 Cross-references to external ontologies NamedEntity
comment 0..1
String		 Informal notes or comments NamedEntity
is_obsolete 0..1
String		 Deprecation flag NamedEntity
source 0..1
String		 Original source/database NamedEntity
last_updated 0..1
String		 Last modification timestamp NamedEntity

Usages

used by used in type used
DiseasePhenotypeAssociation has_disease range Disease
GeneDiseaseAssociation has_disease range Disease
VariantDiseaseAssociation has_disease range Disease
DrugDiseaseTherapeuticAssociation has_disease range Disease
ExposureDiseaseAssociation has_disease range Disease
DiseaseDiseaseAssociation disease_1 range Disease
DiseaseDiseaseAssociation disease_2 range Disease

Identifier and Mapping Information

Schema Source

  • from schema: https://cair2015.github.io/als-kg

Mappings

Mapping Type Mapped Value
self biolink:Disease
native alskb:Disease

LinkML Source

Direct

name: Disease
description: Disease entity. Encompasses ALS (MONDO:0007743), related neurodegenerative
  disorders (FTD, PLS, PMA, SMA), and comorbidities. Follows MONDO disease hierarchy
  via is_a relationships.
from_schema: https://cair2015.github.io/als-kg
is_a: DiseaseOrPhenotype
attributes:
  mondo_id:
    name: mondo_id
    from_schema: https://cair2015.github.io/als-kg
    identifier: true
    domain_of:
    - DiseaseOrPhenotype
    - Disease
    range: MondoIdentifier
    required: true
  name:
    name: name
    description: Disease name (preferred from MONDO)
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    slot_uri: schema:name
    domain_of:
    - Disease
  disease_type:
    name: disease_type
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    domain_of:
    - Disease
    range: DiseaseTypeEnum
  onset_type:
    name: onset_type
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    domain_of:
    - Disease
    - DiseasePhenotypeAssociation
    range: OnsetTypeEnum
  umls_cui:
    name: umls_cui
    description: UMLS Concept Unique Identifier
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    domain_of:
    - Disease
  omim_id:
    name: omim_id
    description: OMIM (Online Mendelian Inheritance in Man) ID
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    domain_of:
    - Disease
  orphanet_id:
    name: orphanet_id
    description: Orphanet rare disease identifier
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    domain_of:
    - Disease
  icd10_code:
    name: icd10_code
    description: ICD-10-CM code for billing/clinical use
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    domain_of:
    - Disease
class_uri: biolink:Disease

Induced

name: Disease
description: Disease entity. Encompasses ALS (MONDO:0007743), related neurodegenerative
  disorders (FTD, PLS, PMA, SMA), and comorbidities. Follows MONDO disease hierarchy
  via is_a relationships.
from_schema: https://cair2015.github.io/als-kg
is_a: DiseaseOrPhenotype
attributes:
  mondo_id:
    name: mondo_id
    from_schema: https://cair2015.github.io/als-kg
    identifier: true
    alias: mondo_id
    owner: Disease
    domain_of:
    - DiseaseOrPhenotype
    - Disease
    range: MondoIdentifier
    required: true
  name:
    name: name
    description: Disease name (preferred from MONDO)
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    slot_uri: schema:name
    alias: name
    owner: Disease
    domain_of:
    - Disease
    range: string
  disease_type:
    name: disease_type
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    alias: disease_type
    owner: Disease
    domain_of:
    - Disease
    range: DiseaseTypeEnum
  onset_type:
    name: onset_type
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    alias: onset_type
    owner: Disease
    domain_of:
    - Disease
    - DiseasePhenotypeAssociation
    range: OnsetTypeEnum
  umls_cui:
    name: umls_cui
    description: UMLS Concept Unique Identifier
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    alias: umls_cui
    owner: Disease
    domain_of:
    - Disease
    range: string
  omim_id:
    name: omim_id
    description: OMIM (Online Mendelian Inheritance in Man) ID
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    alias: omim_id
    owner: Disease
    domain_of:
    - Disease
    range: string
  orphanet_id:
    name: orphanet_id
    description: Orphanet rare disease identifier
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    alias: orphanet_id
    owner: Disease
    domain_of:
    - Disease
    range: string
  icd10_code:
    name: icd10_code
    description: ICD-10-CM code for billing/clinical use
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    alias: icd10_code
    owner: Disease
    domain_of:
    - Disease
    range: string
  hpo_id:
    name: hpo_id
    description: HPO cross-reference
    from_schema: https://cair2015.github.io/als-kg
    rank: 1000
    alias: hpo_id
    owner: Disease
    domain_of:
    - DiseaseOrPhenotype
    - Phenotype
    range: HpoIdentifier
  source_version:
    name: source_version
    description: Source database/ontology version
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: dcterms:hasVersion
    alias: source_version
    owner: Disease
    domain_of:
    - OntologyClass
    - Association
    range: string
  ingest_date:
    name: ingest_date
    description: When entity was imported into ALS-KG
    from_schema: https://cair2015.github.io/als-kg
    alias: ingest_date
    owner: Disease
    domain_of:
    - OntologyClass
    - Relationship
    - Association
    range: string
  id:
    name: id
    description: Persistent unique identifier (IRI)
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: schema:identifier
    alias: id
    owner: Disease
    domain_of:
    - NamedEntity
    range: string
    required: true
  label:
    name: label
    description: Preferred human-readable label
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: rdfs:label
    alias: label
    owner: Disease
    domain_of:
    - NamedEntity
    range: string
    required: true
  definition:
    name: definition
    description: Formal textual definition
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: IAO:0000115
    alias: definition
    owner: Disease
    domain_of:
    - NamedEntity
    range: string
  synonym:
    name: synonym
    description: Alternative names
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: oboInOwl:hasRelatedSynonym
    alias: synonym
    owner: Disease
    domain_of:
    - NamedEntity
    range: string
  xref:
    name: xref
    description: Cross-references to external ontologies
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: oboInOwl:hasDbXref
    alias: xref
    owner: Disease
    domain_of:
    - NamedEntity
    range: string
  comment:
    name: comment
    description: Informal notes or comments
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: rdfs:comment
    alias: comment
    owner: Disease
    domain_of:
    - NamedEntity
    range: string
  is_obsolete:
    name: is_obsolete
    description: Deprecation flag
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: owl:deprecated
    ifabsent: 'false'
    alias: is_obsolete
    owner: Disease
    domain_of:
    - NamedEntity
    range: string
  source:
    name: source
    description: Original source/database
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: dcterms:source
    alias: source
    owner: Disease
    domain_of:
    - NamedEntity
    - Relationship
    - Association
    range: string
  last_updated:
    name: last_updated
    description: Last modification timestamp
    from_schema: https://cair2015.github.io/als-kg
    slot_uri: dcterms:modified
    alias: last_updated
    owner: Disease
    domain_of:
    - NamedEntity
    - Association
    range: string
class_uri: biolink:Disease