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schneckenbecken dysplasia
Summary
- Definition
- An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0050775
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15357 | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000272 | Malar flattening |
| HP:0000470 | Short neck |
| HP:0000773 | Short ribs |
| HP:0000774 | Narrow chest |
| HP:0000882 | Hypoplastic scapulae |
| HP:0000895 | Lateral clavicle hook |
