Polymicrogyria, bilateral temporooccipital

Preferred Label : Polymicrogyria, bilateral temporooccipital;

Symbol : BTOP;

CISMeF acronym : BTOP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FIG4 phosphoinositide 5-phosphatase gene (FIG4, 609390.0016);

Prefixed ID : #612691;

Details

Origin ID

612691;

UMLS CUI

C4013648;

Automatic exact mappings (from CISMeF team)
- FIG4 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Polymicrogyria [ORDO Disease]
Currated CISMeF NLP mapping
- polymicrogyria, bilateral occipital [MeSH concept]
- polymicrogyria, bilateral occipital [MeSH Supplementary Concept]
Genes related to phenotype
- Fig4 phosphoinositide 5-phosphatase [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delirium [HPO term]
- Focal impaired awareness seizure [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
- Visual hallucinations [HPO term]
ORDO concept(s)
- Bilateral parasagittal parieto-occipital polymicrogyria [ORDO Disease]
- Bilateral polymicrogyria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Bilateral parasagittal parieto-occipital polymicrogyria [ORDO Disease]

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