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achondrogenesis type IB
Summary
- Synonym
-
- achondrogenesis Fraccaro type
- Definition
- An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
- Super Class
- achondrogenesis autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080055
- Mondo Disease Ontology
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07585 | Decorin | |
| P50443 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100541 | Femoral hernia |
| HP:0001537 | Umbilical hernia |
| HP:0003336 | Abnormal enchondral ossification |
| HP:0000256 | Macrocephaly |
| HP:0001561 | Polyhydramnios |
| HP:0003498 | Disproportionate short stature |
| HP:0000347 | Micrognathia |
| HP:0010306 | Short thorax |
| HP:0000476 | Cystic hygroma |
| HP:0002007 | Frontal bossing |
