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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003180 | Flat acetabular roof |
| HP:0011461 | Fetal onset |
| HP:0001538 | Protuberant abdomen |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0003025 | Metaphyseal irregularity |
| HP:0000926 | Platyspondyly |
