Silverman-Handmaker Type Dyssegmental Dysplasia
Disease ID: disease_node_15648
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| Dbxref | ICD10CM:Q77.7, MIM:224410, ORDO:1865 |
|---|---|
| Subclassof | DOID_2256, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Silverman-Handmaker type dyssegmental dysplasia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15648 |
| Doid Id | DOID_0090032 |
| Label | Silverman-Handmaker Type Dyssegmental Dysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)