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:
Abnormal systemic arterial morphology (HP:0011004)

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

Parent Node:
Arteriosclerosis (HP:0002634)

..Starting node
..Arteriosclerosis of small cerebral arteries (HP:0004931)

Term ID:

4931

Name:

Arteriosclerosis of small cerebral arteries

Synonym:

Hardened artery wall in small cerebral arteries

Definition:

Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.

Comments:

Reference:

HP:0004931

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atherosclerosis (HP:0002621)

Premature arteriosclerosis (HP:0005177)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004931	HP:0004931	Arteriosclerosis of small cerebral arteries	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0004931	HP:0004931	Arteriosclerosis of small cerebral arteries	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74

Genes (2) :HTRA1 SMARCAL1

Diseases (2) :OMIM:600142 ORPHA:1830

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.