Mitchell syndrome

Preferred Label : Mitchell syndrome;

Symbol : MITCH;

CISMeF acronym : MITCH;

Type : Phenotype, molecular basis known;

Prefixed ID : #618960;

Details

Origin ID

618960;

UMLS CUI

C5394554;

Currated CISMeF NLP mapping
- Mitchell Syndrome [ORDO Disease]
Genes related to phenotype
- Acyl-coa oxidase 1, palmitoyl [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormal cerebral white matter morphology [HPO term]
- Absent speech [HPO term]
- Areflexia of lower limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clumsiness [HPO term]
- Difficulty walking [HPO term]
- Dysphagia [HPO term]
- Encephalopathy [HPO term]
- Hyporeflexia of upper limbs [HPO term]
- Limb muscle weakness [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Seizure [HPO term]
- Sensory axonal neuropathy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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