eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| idiopathic juvenile osteoporosis | ||||
| Disease ID | 880 |
|---|---|
| Disease | idiopathic juvenile osteoporosis |
| Definition | An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. [url:http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b, url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193] - NORD Reference: NORD |
| Synonym | feline osteogenesis imperfecta feline osteogenesis imperfecta (disorder) ijo juvenile osteoporosis osteoporosis, juvenile |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0264080 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 880 |
|---|---|
| Disease | idiopathic juvenile osteoporosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0012052 | Low serum calcitriol HP:0001288 | Gait disturbance HP:0002653 | Bone pain HP:0002757 | Recurrent fractures HP:0000939 | Osteoporosis HP:0002953 | Vertebral compression fractures HP:0002808 | Kyphosis |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 880 |
|---|---|
| Disease | idiopathic juvenile osteoporosis |
| 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:0002953 | Vertebral compression fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| 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:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002953 | Vertebral compression fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002653 | Bone pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012052 | Low serum calcitriol (1,25-dihydroxycholecalciferol) | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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 | 880 |
|---|---|
| Disease | idiopathic juvenile osteoporosis |
| Case | (Waiting for update.) |