eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile paget disease | ||||
| Disease ID | 1606 |
|---|---|
| Disease | juvenile paget disease |
| Synonym | chronic congenital idiopathic hyperphosphatasaemia chronic congenital idiopathic hyperphosphatasemia familial idiopathic hyperphosphatasaemia familial idiopathic hyperphosphatasemia familial osteoectasia hyperostosis corticalis deformans juvenilis hyperphosphatasaemia with bone disease hyperphosphatasemia with bone disease hyperphosphatasemia with bone disease (disorder) hyperphosphatasemia, chronic congenital idiopathic hyperphosphatasia, familial idiopathic idiopathic hyperphosphatasia juvenile paget's disease osteochalasia desmalis familiaris osteoectasia with hyperphosphatasia osteoectasia with hyperphosphatasia (disorder) osteoectasia, familial paget disease of bone 5, juvenile-onset pdb5 |
| Orphanet | |
| OMIM | |
| UMLS | C0268414 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) TNFRSF11B | 8q24.12 |
| Disease ID | 1606 |
|---|---|
| Disease | juvenile paget disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0007703 | Abnormality of retinal pigmentation HP:0000889 | Abnormality of the clavicle HP:0006487 | Bowing of the long bones HP:0000256 | Macrocephaly HP:0002149 | Hyperuricemia HP:0004322 | Short stature HP:0002757 | Recurrent fractures HP:0004437 | Cranial hyperostosis HP:0000365 | Hearing impairment HP:0000822 | Hypertension HP:0000939 | Osteoporosis HP:0000164 | Abnormality of the teeth HP:0001482 | Subcutaneous nodule HP:0000648 | Optic atrophy HP:0000768 | Pectus carinatum HP:0100670 | Rough bone trabeculation HP:0000995 | Melanocytic nevus |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1606 |
|---|---|
| Disease | juvenile paget disease |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894091 | NA | 4982 | TNFRSF11B | umls:C0268414 | CLINVAR | NA | 0.362171535 | NA | TNFRSF11B | 8 | 118933071 | C | T |
| rs104894092 | NA | 4982 | TNFRSF11B | umls:C0268414 | CLINVAR | NA | 0.362171535 | NA | TNFRSF11B | 8 | 118932982 | A | G |
| rs200071478 | NA | 4982 | TNFRSF11B | umls:C0268414 | CLINVAR | NA | 0.362171535 | NA | TNFRSF11B | 8 | 118933105 | T | C |
| rs796051868 | NA | 4982 | TNFRSF11B | umls:C0268414 | CLINVAR | NA | 0.362171535 | NA | TNFRSF11B | 8 | 118928784 | GTC | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006487 | Bowing of the long bones | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000889 | Abnormality of the clavicle | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004437 | Cranial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000768 | Pectus carinatum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000889 | Abnormality of the clavicle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002149 | Hyperuricemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000995 | Melanocytic nevus | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1606 |
|---|---|
| Disease | juvenile paget disease |
| Case | (Waiting for update.) |