Charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined

Preferred Label : Charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : X-linked; ? contiguous gene syndrome;

Prefixed ID : 302900;

Détails

Origin ID

302900;

UMLS CUI

C1844863;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth peroneal muscular atrophy and friedreich ataxia, combined [MeSH Supplementary Concept]
- Charcot-Marie-Tooth peroneal muscular atrophy and friedreich ataxia, combined [MeSH concept]
HPO term(s)
- Abnormal EKG [HPO term]
- Abnormal echocardiogram [HPO term]
- Abnormality of peripheral nerve conduction [HPO term]
- Abnormality of the dorsal column of the spinal cord [HPO term]
- Abnormality of the medulla oblongata [HPO term]
- Abnormality of the spinocerebellar tracts [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Babinski sign [HPO term]
- Concentric hypertrophic cardiomyopathy [HPO term]
- Congestive heart failure [HPO term]
- Decreased pyruvate carboxylase activity [HPO term]
- Diabetes mellitus [HPO term]
- Diabetic ketoacidosis [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hammertoe [HPO term]
- Impaired proprioception [HPO term]
- Impaired vibratory sensation [HPO term]
- Intrinsic hand muscle atrophy [HPO term]
- Juvenile onset [HPO term]
- Mild to moderate distal sensory impairment [HPO term]
- Mitochondrial malic enzyme reduced [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Muscular subvalvular aortic stenosis [HPO term]
- Nystagmus [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Reduced tendon reflexes [HPO term]
- Scoliosis [HPO term]
- Steppage gait [HPO term]
- Symmetric, concentric, hypertrophic cardiomyopathy [HPO term]
- Tibialis atrophy [HPO term]
- Tibialis muscle weakness [HPO term]
- Weakness of the intrinsic hand muscles [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth peroneal muscular atrophy and friedreich ataxia, combined [MeSH Supplementary Concept]
- Charcot-Marie-Tooth peroneal muscular atrophy and friedreich ataxia, combined [MeSH concept]

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