WormBase Tree Display for DO_term: DOID:0111514
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| DOID:0111514 | Name | metatropic dysplasia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. | ||||
| Synonym | Exact | metatropic dwarfism | |||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0080027 | |||||
| DB_info | Database | OMIM | disease | 156530 | |
| Attribute_of | Gene_by_orthology | WBGene00003839 | |||
| WBGene00003841 | |||||
| WBGene00003889 |
