eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital hydrocephalus | ||||
| Disease ID | 2000 |
|---|---|
| Disease | congenital hydrocephalus |
| Definition | Hydrocephalus that is present at birth. |
| Synonym | congen hydrocephalus congenital dilatation of cerebral ventricles congenital hydrencephalus congenital hydrencephaly congenital hydrocephalus (disorder) congenital hydrocephalus nos congenital hydrocephalus nos (disorder) congenital hydrocephaly hydrocephalus congenital hydrocephalus in newborn hydrocephalus, congenital primary hydrocephalus primary hydrocephaly |
| Orphanet | |
| UMLS | C0020256 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 2000 |
|---|---|
| Disease | congenital hydrocephalus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0000238 | Hydrocephalus |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0002410 | Aqueductal stenosis | 2 HP:0002023 | Anal atresia | 1 HP:0011820 | Membranous choanal atresia | 1 HP:0000453 | Blockage of the rear opening of the nasal cavity | 1 HP:0030708 | Myeloschisis | 1 HP:0002315 | Headaches | 1 HP:0001298 | Encephalopathy | 1 HP:0006846 | Acute encephalopathy | 1 HP:0000256 | Macrocrania | 1 |
| Disease ID | 2000 |
|---|---|
| Disease | congenital hydrocephalus |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| POMT2 | NM_013382.5:exon9:c.1006+1G>A | doi:10.1038/gim.2016.37 | Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| Disease ID | 2000 |
|---|---|
| Disease | congenital hydrocephalus |
| Case | (Waiting for update.) |