Charcot-marie-tooth disease, axonal, type 2o

Preferred Label : Charcot-marie-tooth disease, axonal, type 2o;

Symbol : CMT2O;

CISMeF acronym : CMT2O;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, axonal, type 2o; Charcot-marie-tooth disease, axonal, autosomal dominant, type 2o;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (DYNC1H1, 600112.0001);

Prefixed ID : #614228;

Details

Origin ID

614228;

UMLS CUI

C3280220;

Automatic exact mappings (from CISMeF team)
- dynein cytoplasmic 1 heavy chain 1 [ORDO Gene]
- dynein cytoplasmic 1 heavy chain 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2O [ICD-11 More detail]
- Autosomal dominant Charcot-Marie-Tooth disease type 2O [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2O (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2O [DO Concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2O [DO Concept]
Genes related to phenotype
- Dynein, cytoplasmic 1, heavy chain 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Difficulty running [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Falls [HPO term]
- Frequent falls [HPO term]
- Hyporeflexia [HPO term]
- Limb muscle weakness [HPO term]
- Motor delay [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2O [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2O [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2O (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease axonal type 2O [DO Concept]

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