Enum: MechanisticNosologyEnum
Classification of diseases by molecular mechanism or affected cellular system. Tag diseases with their primary mechanistic category.
URI: dismech:MechanisticNosologyEnum
Permissible Values
| Value | Meaning | Description |
|---|---|---|
| RASopathy | MONDO:0021060 | RAS/MAPK signaling pathway disorders (Noonan, Costello, CFC, NF1) |
| ciliopathy | MONDO:0005308 | Primary cilia structure/function disorders (PKD, Bardet-Biedl, Joubert) |
| laminopathy | MONDO:0021106 | Nuclear lamina disorders (EDMD, progeria, lipodystrophy) |
| collagenopathy | MONDO:0004603 | Collagen synthesis/structure disorders (OI, EDS, Alport) |
| mitochondrial disease | MONDO:0044970 | Mitochondrial function/genome disorders (MELAS, MERRF, Leigh) |
| tauopathy | MONDO:0005574 | Tau protein aggregation disorders (Alzheimer's, PSP, CBD) |
| synucleinopathy | MONDO:0000510 | Alpha-synuclein aggregation disorders (Parkinson's, DLB, MSA) |
Slots
| Name | Description |
|---|---|
| classification_value |
Identifier and Mapping Information
Schema Source
- from schema: https://w3id.org/monarch-initiative/dismech
LinkML Source
name: MechanisticNosologyEnum
description: Classification of diseases by molecular mechanism or affected cellular
system. Tag diseases with their primary mechanistic category.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
RASopathy:
text: RASopathy
description: RAS/MAPK signaling pathway disorders (Noonan, Costello, CFC, NF1)
meaning: MONDO:0021060
ciliopathy:
text: ciliopathy
description: Primary cilia structure/function disorders (PKD, Bardet-Biedl, Joubert)
meaning: MONDO:0005308
laminopathy:
text: laminopathy
description: Nuclear lamina disorders (EDMD, progeria, lipodystrophy)
meaning: MONDO:0021106
collagenopathy:
text: collagenopathy
description: Collagen synthesis/structure disorders (OI, EDS, Alport)
meaning: MONDO:0004603
mitochondrial disease:
text: mitochondrial disease
description: Mitochondrial function/genome disorders (MELAS, MERRF, Leigh)
meaning: MONDO:0044970
tauopathy:
text: tauopathy
description: Tau protein aggregation disorders (Alzheimer's, PSP, CBD)
meaning: MONDO:0005574
synucleinopathy:
text: synucleinopathy
description: Alpha-synuclein aggregation disorders (Parkinson's, DLB, MSA)
meaning: MONDO:0000510