Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandMegalencephaly (D058627)
..Starting node
..expandHemimegalencephaly (D065705)

       Child Nodes:
........expandSebaceous Nevus Syndrome and Hemimegalencephaly (C563339)



 Sister Nodes: 
..expandBagatelle Cassidy syndrome (C537796)
..expandChromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
..expandEhlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFryns Macrocephaly (C563963)
..expandHemimegalencephaly (D065705) Child1
..expandKniest like dysplasia lethal (C537208)
..expandMacrocephaly Autism Syndrome (C565342)
..expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandMacrocephaly, benign familial (C537717)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMegalencephaly cutis marmorata telangiectatica congenita (C536142)
..expandMegalencephaly with Dysmyelination (C565408)
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandNeuhauser syndrome (C536143)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandVater Association With Hydrocephalus (C564752)
..expandZori 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