Disease Browser
Parent Node: Megalencephaly (D058627) ..Starting node .. Hemimegalencephaly (D065705) Child Nodes:
........Sebaceous Nevus Syndrome and Hemimegalencephaly (C563339) Sister Nodes: ..Bagatelle Cassidy syndrome (C537796) ..Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291) ..Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563) ..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580) ..Fryns Macrocephaly (C563963) ..Hemimegalencephaly (D065705) 1 ..Kniest like dysplasia lethal (C537208) ..Macrocephaly Autism Syndrome (C565342) ..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621) ..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770) ..Macrocephaly, benign familial (C537717) ..Macrosomia obesity macrocephaly ocular abnormalities (C535812) ..Megalencephaly cutis marmorata telangiectatica congenita (C536142) ..Megalencephaly with Dysmyelination (C565408) ..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453) ..Mental Retardation, X-Linked 93 (C567066) ..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476) ..Neuhauser syndrome (C536143) ..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941) ..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020) ..Vater Association With Hydrocephalus (C564752) ..Zori Stalker Williams syndrome (C536728) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 5014
Name: Hemimegalencephaly
Definition: Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation.
Alternative IDs:
ParentIDs: MESH:D058627
TreeNumbers: C05.660.207.536.500 |C10.500.507.400.249.500 |C16.131.621.207.532.500 |C16.131.666.507.400.249.500
Synonyms: Hemimegalencephalies |Macrocephalies, Unilateral |Macrocephaly, Unilateral |Megalencephalies, Unilateral |Megalencephaly, Unilateral |Unilateral Macrocephalies |Unilateral Macrocephaly |Unilateral Megalencephalies |Unilateral Megalencephaly
Slim Mappings: Congenital abnormality|Musculoskeletal disease|Nervous system disease
Reference:
MedGen: D065705
MeSH: D065705
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants