Class: MendelianDisease

URI: mendelian_disease:MendelianDisease

erDiagram MendelianDisease { string name string description stringList synonyms string id string label } Publication { string id string title string abstract string combined_text string full_text } Onset { string years_old stringList decades string juvenile_or_adult string id string label } Gene { string id string label } Inheritance { string id string label } Symptom { string characteristic string affects string severity string id string label } DiseaseCategory { string id string label } MendelianDisease ||--}o DiseaseCategory : "subclass_of" MendelianDisease ||--}o Symptom : "symptoms" MendelianDisease ||--|o Inheritance : "inheritance" MendelianDisease ||--}o Gene : "genes" MendelianDisease ||--}o Onset : "disease_onsets" MendelianDisease ||--}o Publication : "publications" Symptom ||--|o Onset : "onset_of_symptom"

Inheritance

NamedEntity
- MendelianDisease

Slots

Name	Cardinality and Range	Description	Inheritance
name	0..1 String	the name of the disease	direct
description	0..1 String	a description of the disease	direct
synonyms	* String		direct
subclass_of	* DiseaseCategory		direct
symptoms	* Symptom		direct
inheritance	0..1 Inheritance		direct
genes	* Gene		direct
disease_onsets	* Onset		direct
publications	* Publication		direct
id	1 String	A unique identifier for the named entity	NamedEntity
label	0..1 String	The label (name) of the named thing	NamedEntity

Identifier and Mapping Information

Schema Source

from schema: http://w3id.org/ontogpt/mendelian_disease

Mappings

Mapping Type	Mapped Value
self	mendelian_disease:MendelianDisease
native	mendelian_disease:MendelianDisease

LinkML Source

Direct

name: MendelianDisease
from_schema: http://w3id.org/ontogpt/mendelian_disease
is_a: NamedEntity
attributes:
  name:
    name: name
    description: the name of the disease
    examples:
    - value: peroxisome biogenesis disorder
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
  description:
    name: description
    description: a description of the disease
    examples:
    - value: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS)
        is a group of autosomal recessive disorders affecting the formation of functional
        peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal
        degeneration, multiple organ dysfunction and psychomotor impairment
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
  synonyms:
    name: synonyms
    examples:
    - value: Zellweger syndrome spectrum
    - value: PBD-ZSS
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
    multivalued: true
  subclass_of:
    name: subclass_of
    examples:
    - value: lysosomal disease
    - value: autosomal recessive disorder
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
    range: DiseaseCategory
    multivalued: true
  symptoms:
    name: symptoms
    examples:
    - value: sensorineural hearing loss
    - value: pigmentary retinal degeneration
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
    range: Symptom
    multivalued: true
  inheritance:
    name: inheritance
    examples:
    - value: autosomal recessive
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
    range: Inheritance
  genes:
    name: genes
    annotations:
      prompt:
        tag: prompt
        value: 'semicolon separated list of gene symbols; for example: PEX1; PEX2;
          PEX3'
    examples:
    - value: PEX1
    - value: PEX2
    - value: PEX3
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
    range: Gene
    multivalued: true
  disease_onsets:
    name: disease_onsets
    annotations:
      prompt:
        tag: prompt
        value: 'semi-colon separated list of onsets at which the disease occurs, for
          example: adult; juvenile; first decade'
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
    range: Onset
    multivalued: true
  publications:
    name: publications
    annotations:
      prompt.skip:
        tag: prompt.skip
        value: 'true'
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    domain_of:
    - MendelianDisease
    range: Publication
    multivalued: true
tree_root: true

Induced

name: MendelianDisease
from_schema: http://w3id.org/ontogpt/mendelian_disease
is_a: NamedEntity
attributes:
  name:
    name: name
    description: the name of the disease
    examples:
    - value: peroxisome biogenesis disorder
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: name
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: string
  description:
    name: description
    description: a description of the disease
    examples:
    - value: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS)
        is a group of autosomal recessive disorders affecting the formation of functional
        peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal
        degeneration, multiple organ dysfunction and psychomotor impairment
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: description
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: string
  synonyms:
    name: synonyms
    examples:
    - value: Zellweger syndrome spectrum
    - value: PBD-ZSS
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: synonyms
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: string
    multivalued: true
  subclass_of:
    name: subclass_of
    examples:
    - value: lysosomal disease
    - value: autosomal recessive disorder
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: subclass_of
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: DiseaseCategory
    multivalued: true
  symptoms:
    name: symptoms
    examples:
    - value: sensorineural hearing loss
    - value: pigmentary retinal degeneration
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: symptoms
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: Symptom
    multivalued: true
  inheritance:
    name: inheritance
    examples:
    - value: autosomal recessive
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: inheritance
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: Inheritance
  genes:
    name: genes
    annotations:
      prompt:
        tag: prompt
        value: 'semicolon separated list of gene symbols; for example: PEX1; PEX2;
          PEX3'
    examples:
    - value: PEX1
    - value: PEX2
    - value: PEX3
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: genes
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: Gene
    multivalued: true
  disease_onsets:
    name: disease_onsets
    annotations:
      prompt:
        tag: prompt
        value: 'semi-colon separated list of onsets at which the disease occurs, for
          example: adult; juvenile; first decade'
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: disease_onsets
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: Onset
    multivalued: true
  publications:
    name: publications
    annotations:
      prompt.skip:
        tag: prompt.skip
        value: 'true'
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    alias: publications
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: Publication
    multivalued: true
  id:
    name: id
    annotations:
      prompt.skip:
        tag: prompt.skip
        value: 'true'
    description: A unique identifier for the named entity
    comments:
    - this is populated during the grounding and normalization step
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    rank: 1000
    identifier: true
    alias: id
    owner: MendelianDisease
    domain_of:
    - NamedEntity
    - Publication
    range: string
    required: true
  label:
    name: label
    annotations:
      owl:
        tag: owl
        value: AnnotationProperty, AnnotationAssertion
    description: The label (name) of the named thing
    from_schema: http://w3id.org/ontogpt/mendelian_disease
    aliases:
    - name
    rank: 1000
    slot_uri: rdfs:label
    alias: label
    owner: MendelianDisease
    domain_of:
    - NamedEntity
    range: string
tree_root: true