Charcot-marie-tooth disease, demyelinating, type 1g

Preferred Label : Charcot-marie-tooth disease, demyelinating, type 1g;

Symbol : CMT1G;

CISMeF acronym : CMT1G;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the peripheral myelin protein 2 gene (PMP2, 170715.0001);

Prefixed ID : #618279;

Details

Origin ID

618279;

UMLS CUI

C4748940;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 1G [DO Concept]
- PMP2-related Charcot-Marie-Tooth disease type 1 [ORDO Disease]
- Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 1G [DO Concept]
Genes related to phenotype
- Peripheral myelin protein 2 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Difficulty walking [HPO term]
- Frequent falls [HPO term]
- Onion bulb formation [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- PMP2-related Charcot-Marie-Tooth disease type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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