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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:0001561 | Polyhydramnios |
| HP:0000774 | Narrow chest |
| HP:0008479 | Hypoplastic vertebral bodies |
| HP:0000268 | Dolichocephaly |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0000946 | Hypoplastic ilia |
| HP:0000175 | Cleft palate |
| HP:0001004 | Lymphedema |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0000470 | Short neck |
