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Silverman-Handmaker type dyssegmental dysplasia
Summary
- 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.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0090032
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000358 | Posteriorly rotated ears |
| HP:0000175 | Cleft palate |
| HP:0000519 | Developmental cataract |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000431 | Wide nasal bridge |
| HP:0000252 | Microcephaly |
| HP:0000028 | Cryptorchidism |
| HP:0000347 | Micrognathia |
| HP:0000470 | Short neck |
| HP:0000160 | Narrow mouth |
