Megalencephaly with dysmyelination

Preferred Label : Megalencephaly with dysmyelination;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Megalencephaly with diffuse white matter hypodensity;

Inheritance : Autosomal recessive;

Prefixed ID : 249240;

Details

Origin ID

249240;

UMLS CUI

C1855309;

Currated CISMeF NLP mapping
- megalencephaly with dysmyelination [MeSH concept]
- megalencephaly with dysmyelination [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral dysmyelination [HPO term]
- Demyelination [HPO term]
- EEG with photoparoxysmal response [HPO term]
- Megalencephaly [HPO term]
- Photoparoxysmal response on EEG [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- megalencephaly with dysmyelination [MeSH Supplementary Concept]
- megalencephaly with dysmyelination [MeSH concept]

Keyword's position in hierarchy(ies) :

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