eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypothalamic hamartoma | ||||
| Disease ID | 747 |
|---|---|
| Disease | hypothalamic hamartoma |
| 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 hamartomas tuber cinereum hamartoma |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0342418 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0034013 | precocious puberty | 16 C0014544 | epilepsy | 13 C0265220 | pallister-hall syndrome | 2 C0037769 | infantile spasms | 1 C1510460 | oral-facial-digital syndrome | 1 C0028738 | nystagmus | 1 C0014556 | temporal lobe epilepsy | 1 C0078981 | arachnoid cyst | 1 C0034013 | true precocious puberty | 1 C0018552 | hamartoma | 1 C1096063 | intractable epilepsy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 747 |
|---|---|
| Disease | hypothalamic hamartoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0000826 | Precocious puberty | 18 HP:0001250 | Seizures | 16 HP:0010821 | Gelastic seizures | 10 HP:0012469 | Infantile spasms | 1 HP:0100702 | Arachnoid cyst | 1 HP:0100786 | Excessive sleepiness | 1 HP:0000639 | Nystagmus | 1 HP:0007359 | Partial seizures | 1 HP:0012489 | Suprasellar arachnoid cyst | 1 HP:0001649 | Tachycardia | 1 HP:0010566 | Hamartoma | 1 |
| Disease ID | 747 |
|---|---|
| Disease | hypothalamic hamartoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:15) C1096063 | intractable epilepsy C0342543 | central precocious puberty C0311334 | generalized epilepsy C0270854 | symptomatic generalized epilepsy C0270820 | gelastic seizure C0270820 | gelastic epilepsy C0234533 | generalized seizures C0036572 | seizures C0034013 | true precocious puberty C0034013 | pubertas praecox C0034013 | precocious puberty C0023138 | laurence-moon-biedl syndrome C0014544 | epileptic seizure C0014544 | epilepsy C0004352 | autistic disorder |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0034013 | precocious puberty | 18 C0014544 | epilepsy | 13 C0036572 | seizures | 12 C0270820 | gelastic seizure | 11 C0342543 | central precocious puberty | 8 C0270820 | gelastic epilepsy | 2 C1096063 | intractable epilepsy | 1 |
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 | 747 |
|---|---|
| Disease | hypothalamic hamartoma |
| Case | (Waiting for update.) |