WormBase Tree Display for DO_term: DOID:0090032
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| DOID:0090032 | Name | Silverman-Handmaker type dyssegmental dysplasia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. | ||||
| Parent | Is_a | DOID:2256 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 224410 | |
| Attribute_of | Gene_by_orthology | WBGene00006787 |
