Term ID: 31306
Name: Intracranial arterial calcification
Synonym:
Definition: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).
Comments:
Reference: HP:0031306
Genes and Diseases: Child Nodes: ........Calcification of the small brain vessels (HP:0002504) ........Internal carotid artery calcification (HP:0031307) ........Vertebral artery calcification (HP:0031308) ........Cerebral artery calcification (HP:0031309) HP:0031311 Middle cerebral artery calcification ........Basilar artery calcification (HP:0031310) Sister Nodes: ..Calcification of the aorta (HP:0004963) ..Carotid artery calcification (HP:0031314) ..Coronary artery calcification (HP:0001717) ..Generalized arterial calcification (HP:0004940) ..Medial arterial calcification (HP:0012456) ..Peripheral arterial calcification (HP:0031301) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0031306 HP:0031306 Intracranial arterial calcification 0 PDGFB CL E G H 5155 8800 OMIM:213600 Basal ganglia calcification, idiopathic, 1 9 HP:0031306 HP:0031306 Intracranial arterial calcification 0 PDGFRB CL E G H 5159 8804 OMIM:213600 Basal ganglia calcification, idiopathic, 1 28 HP:0031306 HP:0031306 Intracranial arterial calcification 0 SLC20A2 CL E G H 6575 10947 OMIM:213600 Basal ganglia calcification, idiopathic, 1 70 HP:0031306 HP:0031307 Internal carotid artery calcification 1 CL E G H HP:0031306 HP:0031310 Basilar artery calcification 1 CL E G H HP:0031306 HP:0031309 Cerebral artery calcification 1 CL E G H HP:0031306 HP:0031308 Vertebral artery calcification 1 CL E G H HP:0031306 HP:0002504 Calcification of the small brain vessels 1 PDGFB CL E G H 5155 8800 OMIM:213600 Basal ganglia calcification, idiopathic, 1 . 9 HP:0031306 HP:0002504 Calcification of the small brain vessels 1 PDGFRB CL E G H 5159 8804 OMIM:213600 Basal ganglia calcification, idiopathic, 1 . 28 HP:0031306 HP:0002504 Calcification of the small brain vessels 1 SLC20A2 CL E G H 6575 10947 OMIM:213600 Basal ganglia calcification, idiopathic, 1 . 70 HP:0031306 HP:0031311 Middle cerebral artery calcification 2 CL E G H
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
