Charcot-marie-tooth Disease, Dominant intermediate D

Preferred Label : Charcot-marie-tooth Disease, Dominant intermediate D;

Symbol : CMTDID;

CISMeF acronym : CMTDID; DI-CMTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, Dominant intermediate D; DI-CMTD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myelin protein zero gene (MPZ, 159440.0018);

Prefixed ID : #607791;

Détails

Origin ID

607791;

UMLS CUI

C1843075;

Currated CISMeF NLP mapping
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate D [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate D [MeSH concept]
- Charcot-Marie-Tooth disease, dominant intermediate D [MeSH Supplementary Concept]
- Dominant intermediate Charcot-Marie-Tooth disease type D [ICD-11 More detail]
DO Cross reference
- Charcot-Marie-Tooth disease dominant intermediate D [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]
- 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]
- Segmental peripheral demyelination/remyelination [HPO term]
- Upper limb muscle weakness [HPO term]
ORDO concept(s)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate D [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate D [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate D [MeSH concept]

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