Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 EKG (HP:0003115)

Parent Node:
Abnormal QT interval (HP:0031547)

..Starting node
..Shortened QT interval (HP:0012232)

Term ID:

12232

Name:

Shortened QT interval

Synonym:

Definition:

Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).

Comments:

Reference:

HP:0012232

Genes and Diseases:

Child Nodes:

Sister Nodes:

Prolonged QT interval (HP:0001657)

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:0012232	HP:0012232	Shortened QT interval	0	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3		572
HP:0012232	HP:0012232	Shortened QT interval	0	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome	HP:0040280 - Obligate	59
HP:0012232	HP:0012232	Shortened QT interval	0	CACNB2 CL E G H	783	1402	OMIM:611876	BRUGADA SYNDROME 4; BRGDA4		206
HP:0012232	HP:0012232	Shortened QT interval	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0012232	HP:0012232	Shortened QT interval	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0012232	HP:0012232	Shortened QT interval	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0012232	HP:0012232	Shortened QT interval	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0012232	HP:0012232	Shortened QT interval	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0012232	HP:0012232	Shortened QT interval	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0012232	HP:0012232	Shortened QT interval	0	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome	HP:0040280 - Obligate	901
HP:0012232	HP:0012232	Shortened QT interval	0	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0012232	HP:0012232	Shortened QT interval	0	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome	HP:0040280 - Obligate	193
HP:0012232	HP:0012232	Shortened QT interval	0	KCNJ2 CL E G H	3759	6263	OMIM:609622	SHORT QT SYNDROME 3; SQT3		193
HP:0012232	HP:0012232	Shortened QT interval	0	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome	HP:0040280 - Obligate	730
HP:0012232	HP:0012232	Shortened QT interval	0	KCNQ1 CL E G H	3784	6294	OMIM:609621	Short QT syndrome 2		730
HP:0012232	HP:0012232	Shortened QT interval	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0012232	HP:0012232	Shortened QT interval	0	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome	HP:0040280 - Obligate	7

Genes (13) :CACNA1C CACNA2D1 CACNB2 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C KCNH2 KCNJ2 KCNQ1 MEN1 SLC4A3

Diseases (9) :OMIM:611875 ORPHA:51083 OMIM:611876 ORPHA:99880 ORPHA:143 ORPHA:652 OMIM:609620 OMIM:609622 OMIM:609621

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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