PedAM
Pediatric Disease Annotations & Medicines
| dysplasia epiphysealis hemimelica | ||||
| Disease ID | 1874 |
|---|---|
| Disease | dysplasia epiphysealis hemimelica |
| Definition | Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling around the affected joint. Additional symptoms may develop in some cases. The exact cause of dysplasia epiphysealis hemimelica is unknown. - NORD Reference: NORD |
| Synonym | dysplasia epiphysealis hemimelica (disorder) trevor disease |
| Orphanet | |
| OMIM | |
| UMLS | C0432282 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1874 |
|---|---|
| Disease | dysplasia epiphysealis hemimelica |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0002757 | Recurrent fractures HP:0002823 | Abnormality of the femur HP:0001548 | Overgrowth HP:0008812 | Flattened femoral head HP:0002758 | Osteoarthritis HP:0003367 | Abnormality of the femoral neck HP:0100555 | Asymmetric growth HP:0002970 | Genu varum HP:0005930 | Abnormality of epiphysis morphology HP:0001387 | Joint stiffness HP:0002653 | Bone pain HP:0008368 | Tarsal synostosis HP:0002857 | Genu valgum HP:0005616 | Accelerated skeletal maturation HP:0100777 | Exostoses HP:0010582 | Irregular epiphyses HP:0001763 | Pes planus |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1874 |
|---|---|
| Disease | dysplasia epiphysealis hemimelica |
| Manually Symptom | (Waiting for update.) |
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