Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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)

Grandparent Node:
Vascular calcification (HP:0004934)

Parent Node:
Arterial calcification (HP:0003207)

..Starting node
..Peripheral arterial calcification (HP:0031301)

Term ID:

31301

Name:

Peripheral arterial calcification

Synonym:

Peripheral artery calcification

Definition:

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.

Comments:

Reference:

HP:0031301

Genes and Diseases:

Child Nodes:

........

Lower extremity peripheral arterial calcification (HP:0031302)

................... HP:0031303 Femoral arterial calcification
................... HP:0031304 Iliac arterial calcification
................... HP:0031305 Tibial arterial calcification

Sister Nodes:

Calcification of the aorta (HP:0004963)

Carotid artery calcification (HP:0031314)

Coronary artery calcification (HP:0001717)

Generalized arterial calcification (HP:0004940)

Intracranial arterial calcification (HP:0031306)

Medial arterial calcification (HP:0012456)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031301	HP:0031301	Peripheral arterial calcification	0	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	3
HP:0031301	HP:0031302	Lower extremity peripheral arterial calcification	1	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	3
HP:0031301	HP:0031303	Femoral arterial calcification	2	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	3
HP:0031301	HP:0031305	Tibial arterial calcification	2	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	3
HP:0031301	HP:0031304	Iliac arterial calcification	2	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	3

Genes (1) :NT5E

Diseases (1) :OMIM:211800

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen