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

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

Symbol : CMT2I;

CISMeF acronym : CMT2I;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, type 2i;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myelin protein zero gene (MPZ, 159440.0017);

Prefixed ID : #607677;

Détails

Origin ID

607677;

UMLS CUI

C3888087;

Automatic exact mappings (from CISMeF team)
- myelin protein zero [ORDO Gene]
- myelin protein zero [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant Charcot-Marie-Tooth disease type 2I [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease type 2I [DO Concept]
- Charcot-Marie-Tooth disease, Type 2I [MeSH concept]
- Charcot-Marie-Tooth disease, type 2I [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2I [DO Concept]
Genes related to phenotype
- Myelin protein zero [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal degeneration/regeneration [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Hyporeflexia [HPO term]
- Pes cavus [HPO term]
- Steppage gait [HPO term]
- Upper limb muscle weakness [HPO term]
ORDO concept(s)
- Autosomal dominant Charcot-Marie-Tooth disease type 2I [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant Charcot-Marie-Tooth disease type 2L [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Charcot-Marie-Tooth disease type 2I [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) [SNOMED CT concept]
- Autosomal dominant Charcot-Marie-Tooth disease type 2L [ORDO Disease]
- Charcot-Marie-Tooth disease, type 2I [MeSH Supplementary Concept]

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