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

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

Symbol : CMT2S;

CISMeF acronym : CMT2S;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the immunoglobulin mu-binding protein 2 gene (IGHMBP2, 600502.0010);

Prefixed ID : #616155;

Details

Origin ID

616155;

UMLS CUI

C4015349;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 2S [ORDO Disease]
- immunoglobulin mu DNA binding protein 2 [ORDO Gene]
- immunoglobulin mu DNA binding protein 2 [HGNC gene]
- tetracycline CMT-2 [MeSH Supplementary Concept]
CISMeF manual mappings
- Charcot-Marie-Tooth disease axonal type 2S [DO Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 2S (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2S [DO Concept]
Genes related to phenotype
- Immunoglobulin mu-binding protein 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Gait disturbance [HPO term]
- Hyporeflexia [HPO term]
- Proximal muscle weakness [HPO term]
- Scoliosis [HPO term]
- Sensorimotor neuropathy [HPO term]
- Slowly progressive [HPO term]
- Steppage gait [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 2S [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease axonal type 2S [DO Concept]
- Charcot-Marie-Tooth disease type 2S (disorder) [SNOMED CT concept]

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