Slot: description

a description of the disease

URI: mendelian_disease:description

Applicable Classes

Name	Description	Modifies Slot
MendelianDisease		no

Properties

• Range: String

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

Identifier and Mapping Information

Schema Source

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

Mappings

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

LinkML Source

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