Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines



   hypothalamic hamartomas
  

Disease ID 1478
Disease hypothalamic hamartomas
Definition
The presence of a hamartoma of the hypothalamus. [HPO:curators]
Synonym
chhs
congenital hypothalamic hamartoma syndrome
hamartoma of hypothalamus
hamartoma of hypothalamus (disorder)
hamartoma of the hypothalamus
hypothalamic hamartoma
tuber cinereum hamartoma
Orphanet
OMIM
DOID
UMLS
C0342418
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0014544  |  epilepsy  |  7
C0034013  |  precocious puberty  |  2
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
GLI3  |  2737  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1478
Disease hypothalamic hamartomas
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:4)
HP:0001250  |  Seizures  |  6
HP:0010821  |  Gelastic seizures  |  4
HP:0000826  |  Precocious puberty  |  2
HP:0007359  |  Partial seizures  |  1
Disease ID 1478
Disease hypothalamic hamartomas
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0014544  |  epilepsy  |  7
C0036572  |  seizures  |  6
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.)