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 cardiovascular system physiology (HP:0011025)

Parent Node:
Abnormal heart sound (HP:0031657)

..Starting node
..Loud first heart sound (HP:0031660)

Term ID:

31660

Name:

Loud first heart sound

Synonym:

Definition:

Abnormally increased volume of the first heart sound.

Comments:

Reference:

HP:0031660

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal second heart sound (HP:0031661)

Fourth heart sound (HP:0031659)

Heart murmur (HP:0030148)

Third heart sound (HP:0031658)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031660	HP:0031660	Loud first heart sound	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.