Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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:0002643 | Neonatal respiratory distress |
| HP:0000773 | Short ribs |
| HP:0007957 | Corneal opacity |
| HP:0003819 | Death in childhood |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0004568 | Beaking of vertebral bodies |
| HP:0100670 | Coarse metaphyseal trabecularization |
| HP:0000774 | Narrow chest |
| HP:0005787 | Lumbar platyspondyly |
| HP:0000316 | Hypertelorism |
