Human Phenotype Ontology 
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..expandDysplastic megalencephaly (HP:0034329)help
Term ID: 34329
Name: Dysplastic megalencephaly
Synonym: Bilateral hemimegalencephaly
Definition: A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.
Comments:
Reference: HP:0034329
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034329HP:0034329Dysplastic megalencephaly0 CL E G H


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Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.