Charcot-marie-tooth disease, recessive intermediate b

Preferred Label : Charcot-marie-tooth disease, recessive intermediate b;

Symbol : CMTRIB;

CISMeF acronym : CMTRIB; RI-CMTB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, recessive intermediate b; RI-CMTB;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lysyl-tRNA synthetase 1 gene (KARS1, 601421.0001);

Neoplasia : Vestibular Schwannoma;

Prefixed ID : #613641;

Détails

Origin ID

613641;

UMLS CUI

C3150897;

Currated CISMeF NLP mapping
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) [SNOMED CT concept]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate B [DO Concept]
- Charcot-Marie-Tooth disease recessive intermediate B [DO Concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, dominant intermediate B [MeSH concept]
- Dominant intermediate Charcot-Marie-Tooth disease type B [ICD-11 More detail]
- Recessive intermediate Charcot-Marie-Tooth disease type B [ICD-11 More detail]
DO Cross reference
- Charcot-Marie-Tooth disease recessive intermediate B [DO Concept]
Genes related to phenotype
- Lysyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia [HPO term]
- Pes cavus [HPO term]
- Steppage gait [HPO term]
- Vestibular Schwannoma [HPO term]
ORDO concept(s)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B [ORDO Disease]
- Charcot-Marie-Tooth disease recessive intermediate B [DO Concept]

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