Enum: MechanisticNosologyEnum
Classification of diseases by molecular mechanism or affected cellular system. Tag diseases with their primary mechanistic category.
URI: dismech:enum/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) |
| amyloidopathy | None | Amyloid protein aggregation disorders (Alzheimer's, CAA, hereditary cerebral ... |
| tauopathy | MONDO:0005574 | Tau protein aggregation disorders (Alzheimer's, PSP, CBD) |
| synucleinopathy | MONDO:0000510 | Alpha-synuclein aggregation disorders (Parkinson's, DLB, MSA) |
| intermediate filament disease | None | Intermediate filament structure/aggregation disorders (Alexander disease/GFAP... |
| proteotoxic disease | None | Diseases driven by toxic protein misfolding/aggregation and proteostasis fail... |
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
amyloidopathy:
text: amyloidopathy
description: Amyloid protein aggregation disorders (Alzheimer's, CAA, hereditary
cerebral amyloid angiopathy)
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
intermediate filament disease:
text: intermediate filament disease
description: Intermediate filament structure/aggregation disorders (Alexander
disease/GFAP, epidermolysis bullosa simplex/keratins)
proteotoxic disease:
text: proteotoxic disease
description: Diseases driven by toxic protein misfolding/aggregation and proteostasis
failure (Alexander disease, polyQ disorders)