Charcot-marie-tooth disease, X-linked recessive, 2

Preferred Label : Charcot-marie-tooth disease, X-linked recessive, 2;

Symbol : CMTX2;

CISMeF acronym : CMTX2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Charcot-marie-tooth neuropathy, X-linked recessive, 2;

Description : For a phenotypic description and discussion of genetic heterogeneity of X-linked CMT, see CMTX1 (302800).;

Inheritance : X-linked recessive;

Prefixed ID : %302801;

Détails

Origin ID

302801;

UMLS CUI

C1844873;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease X-linked recessive 2 [DO Concept]
- Charcot-Marie-Tooth disease, X-linked recessive, 2 [MeSH concept]
- Charcot-Marie-Tooth disease, X-linked recessive, 2 [MeSH Supplementary Concept]
- X-linked Charcot-Marie-Tooth disease type 2 [ICD-11 More detail]
- X-linked Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 2 (disorder) [SNOMED CT concept]
DO Cross reference
- Charcot-Marie-Tooth disease X-linked recessive 2 [DO Concept]
HPO term(s)
- Areflexia [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- EMG: axonal abnormality [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Mild to moderate distal sensory impairment [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Steppage gait [HPO term]
- Upper limb muscle weakness [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked Charcot-Marie-Tooth disease type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease X-linked recessive 2 [DO Concept]
- Charcot-Marie-Tooth disease, X-linked recessive, 2 [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, X-linked recessive, 2 [MeSH concept]
- X-linked Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- X-linked Charcot-Marie-Tooth disease type 2 (disorder) [SNOMED CT concept]

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