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
..Absent coronary sinus (HP:0031783)

Term ID:

31783

Name:

Absent coronary sinus

Synonym:

Definition:

A developmental defect in which the coronary sinus fails to form.

Comments:

Reference:

HP:0031783

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronary sinus atrial septal defect (HP:0011643)

Coronary sinus diverticulum (HP:0011644)

Coronary sinus enlargement (HP:0031298)

Unroofed coronary sinus (HP:0031297)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031783	HP:0031783	Absent coronary sinus	0	CL E G H

Genes (0) :

Diseases (0) :

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