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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003196 | Short nose |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0004592 | Thoracic platyspondyly |
| HP:0001643 | Patent ductus arteriosus |
| HP:0009826 | Limb undergrowth |
| HP:0000773 | Short ribs |
| HP:0003177 | Squared iliac bones |
| HP:0100670 | Coarse metaphyseal trabecularization |
| HP:0001156 | Brachydactyly |
| HP:0003819 | Death in childhood |
