Human Phenotype Ontology

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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)

Parent Node:
Abnormal coronary artery morphology (HP:0006704)

..Starting node
..Abnormal coronary artery course (HP:0011686)

Term ID:

11686

Name:

Abnormal coronary artery course

Synonym:

Anomalous coronary artery course

Definition:

An abnormal path of a coronary artery.

Comments:

Reference:

HP:0011686

Genes and Diseases:

Child Nodes:

........

Coronary artery fistula (HP:0011641)

................... HP:0025516 Coronary-pulmonary artery fistula
................... HP:0031560 Coronary cameral fistula
................... HP:0031563 Coronary arteriovenous fistula

........

Myocardial bridging (HP:0025490)

Sister Nodes:

Abnormal coronary artery origin (HP:0011636)

Coronary artery aneurysm (HP:0030882)

Coronary artery atherosclerosis (HP:0001677)

Coronary artery calcification (HP:0001717)

Coronary artery dissection (HP:0006702)

Coronary artery stenosis (HP:0005145)

Granulomatous coronary arteritis (HP:0006679)

Intimal thickening in the coronary arteries (HP:0005292)

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:0011686	HP:0011686	Abnormal coronary artery course	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011686	HP:0011686	Abnormal coronary artery course	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011686	HP:0011686	Abnormal coronary artery course	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0011686	HP:0025490	Myocardial bridging	1	CL E G H
HP:0011686	HP:0011641	Coronary artery fistula	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011686	HP:0011641	Coronary artery fistula	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011686	HP:0031560	Coronary cameral fistula	2	CL E G H
HP:0011686	HP:0031563	Coronary arteriovenous fistula	2	CL E G H
HP:0011686	HP:0025516	Coronary-pulmonary artery fistula	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011686	HP:0031561	Coronary cameral fistula to right ventricle	3	CL E G H

Genes (3) :ANAPC7 PPFIBP1 TKT

Diseases (3) :OMIM:619699 OMIM:620024 ORPHA:488618

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

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