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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:0030680 | Abnormal cardiovascular system morphology |
| HP:0000774 | Narrow chest |
| HP:0003196 | Short nose |
| HP:0000470 | Short neck |
| HP:0005716 | Lethal skeletal dysplasia |
| HP:0001773 | Short foot |
| HP:0003826 | Stillbirth |
| HP:0000773 | Short ribs |
| HP:0002093 | Respiratory insufficiency |
| HP:0000023 | Inguinal hernia |
