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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
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012107 | Increased fibular diameter |
| HP:0000895 | Lateral clavicle hook |
| HP:0002983 | Micromelia |
| HP:0000028 | Cryptorchidism |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0003038 | Fibular hypoplasia |
| HP:0000256 | Macrocephaly |
| HP:0008108 | Advanced tarsal ossification |
| HP:0000773 | Short ribs |
| HP:0001231 | Abnormal fingernail morphology |
