eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| blount disease | ||||
| Disease ID | 1362 |
|---|---|
| Disease | blount disease |
| Definition | A growth disorder of the tibia in children and adolescents that presents as progressive bowing of one or both legs. |
| Synonym | aseptic necrosis of medial condyle of tibia blount's disease blount's disease (disorder) juvenile osteochondrosis of proximal tibia non-rachitic bowleg osteochondrosis deformans tibiae osteochondrosis of blount tibia vara tibia vara (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0175756 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:2) |
| Locus | (Waiting for update.) |
| Disease ID | 1362 |
|---|---|
| Disease | blount disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0000944 | Abnormality of the metaphyses HP:0010591 | Abnormality of the end part of innermost shinbone HP:0002970 | Genu varum HP:0010886 | Osteochondrosis dissecans |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1362 |
|---|---|
| Disease | blount 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: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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000944 | Abnormality of the metaphyses | 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 |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010886 | Osteochondrosis dissecans | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002970 | Genu varum | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1362 |
|---|---|
| Disease | blount disease |
| Case | (Waiting for update.) |