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
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