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spondylometaphyseal dysplasia with corneal dystrophy
Summary
- Synonym
-
- SMDCD
- Definition
- A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.
- Super Class
- autosomal recessive disease spondylometaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112303
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01970 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001319 | Neonatal hypotonia |
| HP:0004568 | Beaking of vertebral bodies |
| HP:0000520 | Proptosis |
| HP:0007957 | Corneal opacity |
| HP:0003026 | Short long bone |
| HP:0000316 | Hypertelorism |
| HP:0005280 | Depressed nasal bridge |
| HP:0002643 | Neonatal respiratory distress |
| HP:0011344 | Severe global developmental delay |
| HP:0000774 | Narrow chest |
