Bilateral Frontoparietal Polymicrogyria

Preferred Label : Bilateral Frontoparietal Polymicrogyria;

NCIt synonyms : BFPP;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ADGRG1 gene, encoding adhesion G-protein coupled receptor G1. It is characterized by motor and cognitive developmental delay, pyramidal signs, and seizures.;

Details

Origin ID

C148367;

UMLS CUI

C1847352;

Currated CISMeF NLP mapping
- Bilateral frontoparietal polymicrogyria [ORDO Disease]
- Bilateral frontoparietal polymicrogyria [ICD-11 More detail]
- Bilateral frontoparietal polymicrogyria (disorder) [SNOMED CT concept]
- Cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) [OMIM Phenotype]
- bilateral frontoparietal polymicrogyria [DO Concept]
- polymicrogyria, bilateral frontoparietal [MeSH concept]
- polymicrogyria, bilateral frontoparietal [MeSH Supplementary Concept]
DO Cross reference
- bilateral frontoparietal polymicrogyria [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bilateral frontoparietal polymicrogyria [ORDO Disease]
- Bilateral frontoparietal polymicrogyria (disorder) [SNOMED CT concept]
- Cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) [OMIM Phenotype]
- polymicrogyria, bilateral frontoparietal [MeSH concept]
- polymicrogyria, bilateral frontoparietal [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ADGRG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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