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MIRAGE
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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95255 | ATP-binding cassette sub-family C member 6 | |
| P22413 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| G3X9S2 | Ectonucleotide pyrophosphatase/phosphodiesterase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000121 | Nephrocalcinosis |
| HP:0000365 | Hearing impairment |
| HP:0000381 | Stapes ankylosis |
| HP:0000405 | Conductive hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000410 | Mixed hearing impairment |
| HP:0000573 | Retinal hemorrhage |
| HP:0000630 | Abnormal retinal artery morphology |
| HP:0000737 | Irritability |
| HP:0000822 | Hypertension |
