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

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

Symbol : CMT2R;

CISMeF acronym : CMT2R;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripartite motif-containing protein 2 gene (TRIM2, 614141.0001);

Prefixed ID : #615490;

Details

Origin ID

615490;

UMLS CUI

C3809655;

Automatic exact mappings (from CISMeF team)
- tripartite motif containing 2 [ORDO Gene]
- tripartite motif containing 2 [HGNC gene]
CISMeF manual mappings
- Charcot-Marie-Tooth disease type 2R [ORDO Disease]
- Charcot-Marie-Tooth disease type 2R [DO Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 2R (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2R [DO Concept]
Genes related to phenotype
- Tripartite motif-containing protein 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Broad-based gait [HPO term]
- Decreased muscle mass [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Delayed ability to walk [HPO term]
- Generalized hypotonia [HPO term]
- Inability to walk [HPO term]
- Knee flexion contracture [HPO term]
- Muscle weakness [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Respiratory insufficiency [HPO term]
- Talipes equinovarus [HPO term]
- Tracheomalacia [HPO term]
- Vocal cord paralysis [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 2R [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease type 2R [ORDO Disease]
- Charcot-Marie-Tooth disease type 2R [DO Concept]
- Charcot-Marie-Tooth disease type 2R (disorder) [SNOMED CT concept]

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