Charcot-marie-tooth disease, dominant intermediate C

Preferred Label : Charcot-marie-tooth disease, dominant intermediate C;

Symbol : CMTDIC;

CISMeF acronym : CMTDIC; DI-CMTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, dominant intermediate C; DI-CMTC;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tyrosyl-tRNA synthetase gene (YARS, 603623.0001);

Prefixed ID : #608323;

Détails

Origin ID

608323;

UMLS CUI

C1842237;

Automatic exact mappings (from CISMeF team)
- YARS1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate C [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate C [MeSH concept]
- Charcot-Marie-Tooth disease, dominant intermediate C [MeSH Supplementary Concept]
- Dominant intermediate Charcot-Marie-Tooth disease type C [ICD-11 More detail]
DO Cross reference
- Charcot-Marie-Tooth disease dominant intermediate C [DO Concept]
Genes related to phenotype
- Tyrosyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal 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]
- Heterogeneous [HPO term]
- Upper limb muscle weakness [HPO term]
Not associated HPO term(s)
- Onion bulb formation [HPO term]
ORDO concept(s)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate C [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate C [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate C [MeSH concept]

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