Class: MendelianDisease

URI: mendelian_disease:MendelianDisease

classDiagram class MendelianDisease MendelianDisease : description MendelianDisease : genes MendelianDisease : inheritance MendelianDisease : name MendelianDisease : subclass_of MendelianDisease : symptoms MendelianDisease : synonyms

Slots

Name	Cardinality and Range	Description	Inheritance
name	1..1 NONE	the name of the disease	direct
description	0..1 NONE		direct
synonyms	0..1 NONE		direct
subclass_of	0..1 NONE		direct
symptoms	0..* Symptom		direct
inheritance	0..1 Inheritance		direct
genes	0..1 NONE		direct

Usages

used by	used in	type	used
MendelianDisease	subclass_of	range	MendelianDisease

Identifier and Mapping Information

Schema Source

from schema: http://w3id.org/linkml/ai/templates/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/linkml/ai/templates/mendelian_disease
rank: 1000
attributes:
  name:
    name: name
    description: the name of the disease
    examples:
    - value: peroxisome biogenesis disorder
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    rank: 1000
    identifier: true
  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/linkml/ai/templates/mendelian_disease
  synonyms:
    name: synonyms
    examples:
    - value: Zellweger syndrome spectrum
    - value: PBD-ZSS
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    multivalued: true
  subclass_of:
    name: subclass_of
    examples:
    - value: lysosomal disease
    - value: autosomal recessive disorder
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    multivalued: true
    range: MendelianDisease
  symptoms:
    name: symptoms
    examples:
    - value: sensorineural hearing loss
    - value: pigmentary retinal degeneration
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    rank: 1000
    multivalued: true
    range: Symptom
  inheritance:
    name: inheritance
    examples:
    - value: autosomal recessive
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    rank: 1000
    range: Inheritance
  genes:
    name: genes
    examples:
    - value: PEX1
    - value: PEX2
    - value: PEX3
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    multivalued: true
    range: Gene

Induced

name: MendelianDisease
from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
rank: 1000
attributes:
  name:
    name: name
    description: the name of the disease
    examples:
    - value: peroxisome biogenesis disorder
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    rank: 1000
    identifier: true
    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/linkml/ai/templates/mendelian_disease
    alias: description
    owner: MendelianDisease
    domain_of:
    - Recipe
    - Reaction
    - MendelianDisease
    - BiologicalProcess
    range: string
  synonyms:
    name: synonyms
    examples:
    - value: Zellweger syndrome spectrum
    - value: PBD-ZSS
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    multivalued: true
    alias: synonyms
    owner: MendelianDisease
    domain_of:
    - Reaction
    - MendelianDisease
    - BiologicalProcess
    range: string
  subclass_of:
    name: subclass_of
    examples:
    - value: lysosomal disease
    - value: autosomal recessive disorder
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    multivalued: true
    alias: subclass_of
    owner: MendelianDisease
    domain_of:
    - Reaction
    - MendelianDisease
    - BiologicalProcess
    range: MendelianDisease
  symptoms:
    name: symptoms
    examples:
    - value: sensorineural hearing loss
    - value: pigmentary retinal degeneration
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    rank: 1000
    multivalued: true
    alias: symptoms
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: Symptom
  inheritance:
    name: inheritance
    examples:
    - value: autosomal recessive
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    rank: 1000
    alias: inheritance
    owner: MendelianDisease
    domain_of:
    - MendelianDisease
    range: Inheritance
  genes:
    name: genes
    examples:
    - value: PEX1
    - value: PEX2
    - value: PEX3
    from_schema: http://w3id.org/linkml/ai/templates/mendelian_disease
    multivalued: true
    alias: genes
    owner: MendelianDisease
    domain_of:
    - MultiGeneToReaction
    - MendelianDisease
    - GoCamAnnotations
    - BiologicalProcess
    range: Gene