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:
Heart murmur (HP:0030148)

Parent Node:
Systolic heart murmur (HP:0031664)

..Starting node
..Midsystolic murmur (HP:0031665)

Term ID:

31665

Name:

Midsystolic murmur

Synonym:

Definition:

A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.

Comments:

Reference:

HP:0031665

Genes and Diseases:

Child Nodes:

Sister Nodes:

Holosystolic murmur (HP:0031667)

Late systolic murmur (HP:0031666)

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:0031665	HP:0031665	Midsystolic murmur	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68

Genes (1) :GJA1

Diseases (1) :OMIM:600309

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