PedAM

Pediatric Disease Annotations & Medicines


	hemimegalencephaly

Disease ID	1151
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	ORPHANET:99802
UMLS	C0431391
MeSH	D065705
SNOMED-CT	SNOMEDCT_US_2016_09_01:253170008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0085261 \| proteus syndrome \| 2 C0014544 \| epilepsy \| 2 C0023801 \| lipomatosis \| 2 C1096063 \| intractable epilepsy \| 1 C0041341 \| tuberous sclerosis \| 1 C0013080 \| trisomy 21 \| 1 C0041341 \| tuberous sclerosis complex \| 1 C0013080 \| g trisomy \| 1 C0085113 \| neurofibromatosis \| 1 C0018801 \| cardiac failure \| 1 C0020598 \| hypoglycemia \| 1 C0917996 \| cerebral aneurysm \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) PIK3CA \| 5290 \| ORPHANET AKT3 \| 10000 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) AKT3 \| 1q43-q44 PIK3CA \| 3q26.32

Disease ID	1151
Disease	hemimegalencephaly
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0001635 \| Congestive heart failure \| 1 HP:0012650 \| Perisylvian polymicrogyria \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0002282 \| Heterotopias \| 1 HP:0002119 \| Ventricular dilatation \| 1 HP:0001528 \| Hemihypertrophy \| 1 HP:0002126 \| Polymicrogyria \| 1 HP:0002539 \| Cortical dysplasia \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0200134 \| Epileptic encephalopathy \| 1 HP:0001067 \| Neurofibromas \| 1

Disease ID	1151
Disease	hemimegalencephaly
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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