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

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

Symbol : CMT2T;

CISMeF acronym : CMT2T;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the membrane metalloendopeptidase gene (MME, 120520.0001);

Prefixed ID : #617017;

Détails

Origin ID

617017;

UMLS CUI

C4015635;

Automatic exact mappings (from CISMeF team)
- DnaJ heat shock protein family (Hsp40) member B2 [ORDO Gene]
- DnaJ heat shock protein family (Hsp40) member B2 [HGNC gene]
- MME wt Allele [NCIt concept]
CISMeF manual mappings
- Charcot-Marie-Tooth disease axonal type 2T [DO Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease type 2T [ORDO Disease]
- Charcot-Marie-Tooth disease type 2T (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease axonal type 2T [DO Concept]
Genes related to phenotype
- Membrane metalloendopeptidase [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Distal sensory impairment [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hyporeflexia [HPO term]
- Sensorimotor neuropathy [HPO term]
- Slowly progressive [HPO term]
- Unsteady gait [HPO term]
Not associated HPO term(s)
- Dementia [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease type 2T [ORDO Disease]
- MME-related autosomal dominant Charcot Marie Tooth disease type 2 [ORDO Disease]
- Spinocerebellar ataxia type 43 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease axonal type 2T [DO Concept]
- Charcot-Marie-Tooth disease type 2T [ORDO Disease]
- Charcot-Marie-Tooth disease type 2T (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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