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 heart morphology (HP:0001627)

Parent Node:
Abnormal cardiac atrium morphology (HP:0005120)

..Starting node
..Abnormal coronary sinus morphology (HP:0011642)

Term ID:

11642

Name:

Abnormal coronary sinus morphology

Synonym:

Abnormality of the coronary sinus

Definition:

An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.

Comments:

Reference:

HP:0011642

Genes and Diseases:

Child Nodes:

........

Coronary sinus atrial septal defect (HP:0011643)

........

Coronary sinus diverticulum (HP:0011644)

........

Unroofed coronary sinus (HP:0031297)

........

Coronary sinus enlargement (HP:0031298)

........

Absent coronary sinus (HP:0031783)

Sister Nodes:

Abnormal atrial arrangement (HP:0011535)

Abnormal left atrium morphology (HP:0025579)

Abnormal right atrium morphology (HP:0025580)

Atrial septal defect (HP:0001631)

Atrial septal hypertrophy (HP:0031296)

Common atrium (HP:0011565)

Cor triatriatum (HP:0010774)

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:0011642	HP:0011642	Abnormal coronary sinus morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011642	HP:0011642	Abnormal coronary sinus morphology	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	2
HP:0011642	HP:0011642	Abnormal coronary sinus morphology	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0011642	HP:0031297	Unroofed coronary sinus	1	CL E G H
HP:0011642	HP:0011644	Coronary sinus diverticulum	1	CL E G H
HP:0011642	HP:0011643	Coronary sinus atrial septal defect	1	CL E G H
HP:0011642	HP:0031783	Absent coronary sinus	1	CL E G H
HP:0011642	HP:0031298	Coronary sinus enlargement	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011642	HP:0031298	Coronary sinus enlargement	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	2
HP:0011642	HP:0031298	Coronary sinus enlargement	1	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.

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