Charcot-marie-tooth disease, guadalajara neuronal type

Preferred Label : Charcot-marie-tooth disease, guadalajara neuronal type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant; also other autosomal dominant forms, as well as autosomal recessive, and X-linked forms;

Prefixed ID : 118230;

Details

Origin ID

118230;

UMLS CUI

C1861673;

Currated CISMeF NLP mapping
- Charcot-Marie-Tooth disease, guadalajara neuronal type [MeSH concept]
- Charcot-Marie-Tooth disease, guadalajara neuronal type [MeSH Supplementary Concept]
DO Cross reference
- Charcot-Marie-Tooth disease type 2 [DO Concept]
HPO term(s)
- Abnormal atrioventricular conduction [HPO term]
- Abnormal facial shape [HPO term]
- Abnormality of the larynx [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal loss [HPO term]
- Axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies [HPO term]
- Chronic diarrhea [HPO term]
- Chronic sensorineural polyneuropathy [HPO term]
- Congenital foot contraction deformities [HPO term]
- Demyelination [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Enhanced neurotoxicity of vincristine [HPO term]
- Flexion contracture [HPO term]
- Heart block [HPO term]
- Hyperhidrosis [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Nausea [HPO term]
- Neonatal inspiratory stridor [HPO term]
- Penetrating foot ulcers [HPO term]
- Peroneal muscle atrophy [HPO term]
- Peroneal muscle weakness [HPO term]
- Pes cavus [HPO term]
- Reduced tendon reflexes [HPO term]
- Short neck [HPO term]
- Somatic sensory dysfunction [HPO term]
- Trophic limb changes [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease, guadalajara neuronal type [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, guadalajara neuronal type [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients