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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:0005019 | Diaphyseal undertubulation |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0008108 | Advanced tarsal ossification |
| HP:0008479 | Hypoplastic vertebral bodies |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0012107 | Increased fibular diameter |
| HP:0011800 | Midface retrusion |
| HP:0003826 | Stillbirth |
| HP:0003026 | Short long bone |
| HP:0008450 | Narrow vertebral interpedicular distance |
