WormBase Tree Display for DO_term: DOID:0050812
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| DOID:0050812 | Name | spondyloepimetaphyseal dysplasia, Pakistani type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. | ||||
| Synonym | Exact | spondyloepimetaphyseal dysplasia Pakistani type | |||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0080027 | |||||
| DB_info | Database | OMIM | disease | 612847 | |
| Attribute_of | Gene_by_orthology | WBGene00004091 |
