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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:0002983 | Micromelia |
| HP:0000772 | Abnormal rib morphology |
| HP:0012368 | Flat face |
| HP:0000463 | Anteverted nares |
| HP:0003510 | Severe short stature |
| HP:0001762 | Talipes equinovarus |
| HP:0000343 | Long philtrum |
| HP:0001789 | Hydrops fetalis |
| HP:0006703 | Aplasia/Hypoplasia of the lungs |
| HP:0000474 | Thickened nuchal skin fold |
