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arterial calcification of infancy
Summary
- Synonym
-
- generalized arterial calcification of infancy
- idiopathic infantile arterial calcification
- infantile arteriosclerosis
- Definition
- A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
- Super Class
- artery disease
External Links
- Disease Ontology
- DOID:0050644
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 179663 | enpp-1 | Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.1;NUC domain-containing protein | |
| 179665 | C27A7.3 | Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.1;Ectonucleotide pyrophosphatase/phosphodiesterase C27A7.3 | |
| 180409 | mrp-1 | Multidrug resistance-associated protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003623 | Neonatal onset |
| HP:0002643 | Neonatal respiratory distress |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001920 | Renal artery stenosis |
| HP:0004322 | Short stature |
| HP:0004940 | Generalized arterial calcification |
| HP:0001658 | Myocardial infarction |
| HP:0001507 | Growth abnormality |
| HP:0003577 | Congenital onset |
