eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemimegalencephaly | ||||
| Disease ID | 1864 |
|---|---|
| Disease | 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. |
| Synonym | hemimegalencephalies hemimegalencephaly (disorder) hemimegalencephaly [disease/finding] macrocephalies, unilateral macrocephaly, unilateral megalencephalies, unilateral megalencephaly, unilateral unilateral macrocephalies unilateral macrocephaly unilateral megalencephalies unilateral megalencephaly |
| Orphanet | |
| UMLS | C0431391 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0014544 | epilepsy | 2 C0020598 | hypoglycemia | 1 C0013080 | trisomy 21 | 1 C0041341 | tuberous sclerosis | 1 C0018801 | cardiac failure | 1 C0041341 | tuberous sclerosis complex | 1 C0085113 | neurofibromatosis | 1 C0085261 | proteus syndrome | 1 C0013080 | g trisomy | 1 C0917996 | cerebral aneurysm | 1 C0023801 | lipomatosis | 1 C1096063 | intractable epilepsy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1864 |
|---|---|
| Disease | hemimegalencephaly |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0001943 | Hypoglycemia | 1 HP:0012650 | Perisylvian polymicrogyria | 1 HP:0001635 | Congestive heart failure | 1 HP:0004944 | Cerebral artery aneurysm | 1 HP:0001067 | Neurofibromas | 1 HP:0200134 | Epileptic encephalopathy | 1 HP:0002126 | Polymicrogyria | 1 HP:0002119 | Ventricular dilatation | 1 HP:0002539 | Cortical dysplasia | 1 HP:0001528 | Hemihypertrophy | 1 HP:0002282 | Heterotopias | 1 |
| Disease ID | 1864 |
|---|---|
| Disease | hemimegalencephaly |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1864 |
|---|---|
| Disease | hemimegalencephaly |
| Case | (Waiting for update.) |