WormBase Tree Display for DO_term: DOID:0112304
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| DOID:0112304 | Name | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. | ||||
| Synonym | Exact | Megarbane-Dagher-Melike type chondrodysplasia | |||
| SMDMDM | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112295 | |||||
| DB_info | Database | OMIM | disease | 613320 | |
| Attribute_of | Gene_by_orthology | WBGene00009734 |
