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 atrioventricular conduction (HP:0005150)

Grandparent Node:
Heart block (HP:0012722)

Parent Node:
Atrioventricular block (HP:0001678)

..Starting node
..Second degree atrioventricular block (HP:0011706)

Term ID:

11706

Name:

Second degree atrioventricular block

Synonym:

Definition:

An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.

Comments:

Reference:

HP:0011706

Genes and Diseases:

Child Nodes:

........

Mobitz I atrioventricular block (HP:0011707)

........

Mobitz II atrioventricular block (HP:0011708)

Sister Nodes:

Absent atrioventricular node (HP:0006681)

First degree atrioventricular block (HP:0011705)

Third degree atrioventricular block (HP:0001709)

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:0011706	HP:0011706	Second degree atrioventricular block	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0011706	HP:0011706	Second degree atrioventricular block	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0011706	HP:0011706	Second degree atrioventricular block	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0011706	HP:0011706	Second degree atrioventricular block	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	247
HP:0011706	HP:0011706	Second degree atrioventricular block	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0011706	HP:0011706	Second degree atrioventricular block	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0011706	HP:0011706	Second degree atrioventricular block	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0011706	HP:0011706	Second degree atrioventricular block	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0011706	HP:0011706	Second degree atrioventricular block	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional
HP:0011706	HP:0011706	Second degree atrioventricular block	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional	10
HP:0011706	HP:0011706	Second degree atrioventricular block	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0011706	HP:0011706	Second degree atrioventricular block	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0011706	HP:0011706	Second degree atrioventricular block	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0011706	HP:0011708	Mobitz II atrioventricular block	1	CL E G H
HP:0011706	HP:0034305	2:1 atrioventricular block	1	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0011706	HP:0034305	2:1 atrioventricular block	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0011706	HP:0011707	Mobitz I atrioventricular block	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0011706	HP:0011707	Mobitz I atrioventricular block	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134

Genes (12) :BVES CACNA1D CACNA1S CALM1 CALM2 CALM3 CDC45 GABRA3 KCNJ18 LMNA NPPA SCN5A

Diseases (10) :OMIM:616812 OMIM:615474 ORPHA:369929 ORPHA:79102 OMIM:616247 OMIM:616249 OMIM:618782 OMIM:617063 OMIM:115200 ORPHA:1344

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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