Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Arterial calcification (HP:0003207)

Parent Node:
Abnormal cerebral artery morphology (HP:0009145)

Parent Node:
Intracranial arterial calcification (HP:0031306)

..Starting node
..Calcification of the small brain vessels (HP:0002504)

Term ID:

2504

Name:

Calcification of the small brain vessels

Synonym:

Definition:

Deposition of calcium salts within small blood vessels of the brain.

Comments:

Reference:

HP:0002504

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basilar artery calcification (HP:0031310)

Cerebral artery calcification (HP:0031309)

Internal carotid artery calcification (HP:0031307)

Vertebral artery calcification (HP:0031308)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002504	HP:0002504	Calcification of the small brain vessels	0	PDGFB CL E G H	5155	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	151	8800	190040
HP:0002504	HP:0002504	Calcification of the small brain vessels	0	PDGFRB CL E G H	5159	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	531	8804	173410
HP:0002504	HP:0002504	Calcification of the small brain vessels	0	SLC20A2 CL E G H	6575	213600	Idiopathic basal ganglia calcification 1	213600	C0393590	OMIM	1	337	10947	158378
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (3) :PDGFB PDGFRB SLC20A2

Diseases (1) :213600

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.