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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 |
|---|---|---|
| P50443 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003270 | Abdominal distention |
| HP:0000946 | Hypoplastic ilia |
| HP:0008921 | Neonatal short-limb short stature |
| HP:0001623 | Breech presentation |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0004599 | Absent or minimally ossified vertebral bodies |
| HP:0000969 | Edema |
| HP:0003577 | Congenital onset |
| HP:0000272 | Malar flattening |
