eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| young syndrome | ||||
| Disease ID | 1832 |
|---|---|
| Disease | young syndrome |
| Synonym | azoospermia sinopulmonary infections azoospermia, obstructive and chronic sinopulmonary infections azoospermia, obstructive, and chronic sinopulmonary infections barry-perkins-young syndrome sinusitis-infertility syndrome young's syndrome young's syndrome (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0340037 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1832 |
|---|---|
| Disease | young syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0002110 | Bronchiectasis HP:0005425 | Recurrent sinopulmonary infections HP:0000027 | Azoospermia HP:0002837 | Recurrent bronchitis HP:0010959 | Cystic adenomatoid lung disease HP:0001732 | Abnormality of the pancreas HP:0011962 | Obstructive azoospermia HP:0000144 | Decreased fertility |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1832 |
|---|---|
| Disease | young syndrome |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001732 | Abnormality of the pancreas | MP:0014230 | dilated crypts of Lieberkuhn | |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002837 | Recurrent bronchitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000027 | Azoospermia | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0005425 | Recurrent sinopulmonary infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002110 | Bronchiectasis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000144 | Decreased fertility | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001732 | Abnormality of the pancreas | MP:0014233 | bile duct epithelium hyperplasia | |
| Disease ID | 1832 |
|---|---|
| Disease | young syndrome |
| Case | (Waiting for update.) |