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
..First degree atrioventricular block (HP:0011705)

Term ID:

11705

Name:

First degree atrioventricular block

Synonym:

Definition:

Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.

Comments:

Reference:

HP:0011705

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent atrioventricular node (HP:0006681)

Second degree atrioventricular block (HP:0011706)

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:0011705	HP:0011705	First degree atrioventricular block	0	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	254
HP:0011705	HP:0011705	First degree atrioventricular block	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0011705	HP:0011705	First degree atrioventricular block	0	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	289
HP:0011705	HP:0011705	First degree atrioventricular block	0	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	572
HP:0011705	HP:0011705	First degree atrioventricular block	0	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	59
HP:0011705	HP:0011705	First degree atrioventricular block	0	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	206
HP:0011705	HP:0011705	First degree atrioventricular block	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0011705	HP:0011705	First degree atrioventricular block	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0011705	HP:0011705	First degree atrioventricular block	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0011705	HP:0011705	First degree atrioventricular block	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0011705	HP:0011705	First degree atrioventricular block	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0011705	HP:0011705	First degree atrioventricular block	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011705	HP:0011705	First degree atrioventricular block	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0011705	HP:0011705	First degree atrioventricular block	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0011705	HP:0011705	First degree atrioventricular block	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0011705	HP:0011705	First degree atrioventricular block	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0011705	HP:0011705	First degree atrioventricular block	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0011705	HP:0011705	First degree atrioventricular block	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.	39
HP:0011705	HP:0011705	First degree atrioventricular block	0	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	97
HP:0011705	HP:0011705	First degree atrioventricular block	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0011705	HP:0011705	First degree atrioventricular block	0	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	185
HP:0011705	HP:0011705	First degree atrioventricular block	0	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	35
HP:0011705	HP:0011705	First degree atrioventricular block	0	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	73
HP:0011705	HP:0011705	First degree atrioventricular block	0	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	5
HP:0011705	HP:0011705	First degree atrioventricular block	0	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	23
HP:0011705	HP:0011705	First degree atrioventricular block	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0011705	HP:0011705	First degree atrioventricular block	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0011705	HP:0011705	First degree atrioventricular block	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011705	HP:0011705	First degree atrioventricular block	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0011705	HP:0011705	First degree atrioventricular block	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0011705	HP:0011705	First degree atrioventricular block	0	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18		2
HP:0011705	HP:0011705	First degree atrioventricular block	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0011705	HP:0011705	First degree atrioventricular block	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0011705	HP:0011705	First degree atrioventricular block	0	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	406
HP:0011705	HP:0011705	First degree atrioventricular block	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0011705	HP:0011705	First degree atrioventricular block	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0011705	HP:0011705	First degree atrioventricular block	0	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	22
HP:0011705	HP:0011705	First degree atrioventricular block	0	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	146
HP:0011705	HP:0011705	First degree atrioventricular block	0	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	126
HP:0011705	HP:0011705	First degree atrioventricular block	0	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	21
HP:0011705	HP:0011705	First degree atrioventricular block	0	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	122
HP:0011705	HP:0011705	First degree atrioventricular block	0	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	1134
HP:0011705	HP:0011705	First degree atrioventricular block	0	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	67
HP:0011705	HP:0011705	First degree atrioventricular block	0	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	14
HP:0011705	HP:0011705	First degree atrioventricular block	0	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	18
HP:0011705	HP:0011705	First degree atrioventricular block	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0011705	HP:0011705	First degree atrioventricular block	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent	123
HP:0011705	HP:0011705	First degree atrioventricular block	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0011705	HP:0011705	First degree atrioventricular block	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0011705	HP:0011705	First degree atrioventricular block	0	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome	HP:0040283 - Occasional	124

Genes (45) :ABCC9 ACTC1 AKAP9 CACNA1C CACNA2D1 CACNB2 CITED2 CTNNA3 DMPK DOHH DTNA EMD GATA4 GATA6 GJA1 GJA5 GPD1L HCN4 KCND3 KCNE3 KCNE5 KCNJ8 KCNK3 LMNA MYBPC3 MYH6 MYL4 MYPN NKX2-5 PKP2 PSEN1 PSEN2 RANGRF SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TBX20 TBX5 TLL1 TRPM4

Diseases (22) :ORPHA:130 ORPHA:99103 ORPHA:99105 OMIM:615616 ORPHA:589821 OMIM:160900 OMIM:620066 OMIM:604169 OMIM:310300 OMIM:600309 OMIM:108770 OMIM:611777 OMIM:615344 OMIM:115200 OMIM:181350 OMIM:115197 OMIM:617280 OMIM:617336 OMIM:613694 OMIM:613697 ORPHA:392 ORPHA:99106

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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