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 cardiac atrium morphology (HP:0005120)

Parent Node:
Abnormal coronary sinus morphology (HP:0011642)

..Starting node
..Coronary sinus enlargement (HP:0031298)

Term ID:

31298

Name:

Coronary sinus enlargement

Synonym:

Coronary sinus dilatation; Enlarged coronary sinus

Definition:

Abnormal increase in size of the coronary sinus.

Comments:

Reference:

HP:0031298

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent coronary sinus (HP:0031783)

Coronary sinus atrial septal defect (HP:0011643)

Coronary sinus diverticulum (HP:0011644)

Unroofed coronary sinus (HP:0031297)

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:0031298	HP:0031298	Coronary sinus enlargement	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0031298	HP:0031298	Coronary sinus enlargement	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	2
HP:0031298	HP:0031298	Coronary sinus enlargement	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS

Genes (3) :IPO8 MYRF SMG8

Diseases (3) :OMIM:619472 OMIM:618280 OMIM:619268

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