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:
Abnormality of cardiovascular system electrophysiology (HP:0030956)

Parent Node:
Arrhythmia (HP:0011675)

..Starting node
..Palpitations (HP:0001962)

Term ID:

1962

Name:

Palpitations

Synonym:

Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat

Definition:

A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.

Comments:

Reference:

HP:0001962

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal electrophysiology of sinoatrial node origin (HP:0011702)

Abnormal heart rate variability (HP:0031860)

Bradycardia (HP:0001662)

Cardiac arrest (HP:0001695)

Supraventricular arrhythmia (HP:0005115)

Tachycardia (HP:0001649)

Ventricular arrhythmia (HP:0004308)

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:0001962	HP:0001962	Palpitations	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0001962	HP:0001962	Palpitations	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	208
HP:0001962	HP:0001962	Palpitations	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0001962	HP:0001962	Palpitations	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0001962	HP:0001962	Palpitations	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0001962	HP:0001962	Palpitations	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	.	2
HP:0001962	HP:0001962	Palpitations	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0001962	HP:0001962	Palpitations	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0001962	HP:0001962	Palpitations	0	CACNA2D1 CL E G H	781	1399	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	59
HP:0001962	HP:0001962	Palpitations	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040284 - Very rare	148
HP:0001962	HP:0001962	Palpitations	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0001962	HP:0001962	Palpitations	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0001962	HP:0001962	Palpitations	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0001962	HP:0001962	Palpitations	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0001962	HP:0001962	Palpitations	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0001962	HP:0001962	Palpitations	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	5
HP:0001962	HP:0001962	Palpitations	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040282 - Frequent	5
HP:0001962	HP:0001962	Palpitations	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0001962	HP:0001962	Palpitations	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0001962	HP:0001962	Palpitations	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0001962	HP:0001962	Palpitations	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0001962	HP:0001962	Palpitations	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001962	HP:0001962	Palpitations	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0001962	HP:0001962	Palpitations	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.	268
HP:0001962	HP:0001962	Palpitations	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.	358
HP:0001962	HP:0001962	Palpitations	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1		163
HP:0001962	HP:0001962	Palpitations	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0001962	HP:0001962	Palpitations	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0001962	HP:0001962	Palpitations	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0001962	HP:0001962	Palpitations	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0001962	HP:0001962	Palpitations	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	87
HP:0001962	HP:0001962	Palpitations	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	37
HP:0001962	HP:0001962	Palpitations	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0001962	HP:0001962	Palpitations	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0001962	HP:0001962	Palpitations	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0001962	HP:0001962	Palpitations	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0001962	HP:0001962	Palpitations	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.	111
HP:0001962	HP:0001962	Palpitations	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease		222
HP:0001962	HP:0001962	Palpitations	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0001962	HP:0001962	Palpitations	0	KCND3 CL E G H	3752	6239	OMIM:616399	Brugada syndrome 9	.	35
HP:0001962	HP:0001962	Palpitations	0	KCNE2 CL E G H	9992	6242	OMIM:611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4		43
HP:0001962	HP:0001962	Palpitations	0	KCNH2 CL E G H	3757	6251	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	901
HP:0001962	HP:0001962	Palpitations	0	KCNH2 CL E G H	3757	6251	OMIM:609620	SHORT QT SYNDROME 1; SQT1		901
HP:0001962	HP:0001962	Palpitations	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0001962	HP:0001962	Palpitations	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0001962	HP:0001962	Palpitations	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0001962	HP:0001962	Palpitations	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0001962	HP:0001962	Palpitations	0	KCNJ2 CL E G H	3759	6263	OMIM:613980	Atrial fibrillation, familial, 9		193
HP:0001962	HP:0001962	Palpitations	0	KCNJ2 CL E G H	3759	6263	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	193
HP:0001962	HP:0001962	Palpitations	0	KCNJ2 CL E G H	3759	6263	OMIM:609622	SHORT QT SYNDROME 3; SQT3		193
HP:0001962	HP:0001962	Palpitations	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0001962	HP:0001962	Palpitations	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0001962	HP:0001962	Palpitations	0	KCNQ1 CL E G H	3784	6294	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	730
HP:0001962	HP:0001962	Palpitations	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0001962	HP:0001962	Palpitations	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0001962	HP:0001962	Palpitations	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0001962	HP:0001962	Palpitations	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0001962	HP:0001962	Palpitations	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	452
HP:0001962	HP:0001962	Palpitations	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.	131
HP:0001962	HP:0001962	Palpitations	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.	95
HP:0001962	HP:0001962	Palpitations	0	MYL4 CL E G H	4635	7585	OMIM:617280	Atrial fibrillation, familial, 18	.	2
HP:0001962	HP:0001962	Palpitations	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0001962	HP:0001962	Palpitations	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0001962	HP:0001962	Palpitations	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	90
HP:0001962	HP:0001962	Palpitations	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040281 - Very frequent	13
HP:0001962	HP:0001962	Palpitations	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2		13
HP:0001962	HP:0001962	Palpitations	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.	406
HP:0001962	HP:0001962	Palpitations	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0001962	HP:0001962	Palpitations	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0001962	HP:0001962	Palpitations	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0001962	HP:0001962	Palpitations	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6		235
HP:0001962	HP:0001962	Palpitations	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0001962	HP:0001962	Palpitations	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0001962	HP:0001962	Palpitations	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0001962	HP:0001962	Palpitations	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0001962	HP:0001962	Palpitations	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0001962	HP:0001962	Palpitations	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0001962	HP:0001962	Palpitations	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040281 - Very frequent	1134
HP:0001962	HP:0001962	Palpitations	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0001962	HP:0001962	Palpitations	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0001962	HP:0001962	Palpitations	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0001962	HP:0001962	Palpitations	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0001962	HP:0001962	Palpitations	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0001962	HP:0001962	Palpitations	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0001962	HP:0001962	Palpitations	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0001962	HP:0001962	Palpitations	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0001962	HP:0001962	Palpitations	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0001962	HP:0001962	Palpitations	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0001962	HP:0001962	Palpitations	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0001962	HP:0001962	Palpitations	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0001962	HP:0001962	Palpitations	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0001962	HP:0001962	Palpitations	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0001962	HP:0001962	Palpitations	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0001962	HP:0001962	Palpitations	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001962	HP:0001962	Palpitations	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0001962	HP:0001962	Palpitations	0	SLC4A3 CL E G H	6508	11029	ORPHA:51083	Familial short QT syndrome	HP:0040282 - Frequent	7
HP:0001962	HP:0001962	Palpitations	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	20
HP:0001962	HP:0001962	Palpitations	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0001962	HP:0001962	Palpitations	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0001962	HP:0001962	Palpitations	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0001962	HP:0001962	Palpitations	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent	6
HP:0001962	HP:0001962	Palpitations	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0001962	HP:0001962	Palpitations	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5	.	171
HP:0001962	HP:0001962	Palpitations	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0001962	HP:0001962	Palpitations	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0001962	HP:0001962	Palpitations	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent	15
HP:0001962	HP:0001962	Palpitations	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0001962	HP:0001962	Palpitations	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0001962	HP:0001962	Palpitations	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0001962	HP:0001962	Palpitations	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0001962	HP:0001962	Palpitations	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (86) :ABCC8 ACTC1 ADAMTS19 ATRX BVES CACNA1S CACNA2D1 CAV3 CCND1 CDH2 CDH23 CDKN2A CITED2 CLCNKB CNBP CTNNB1 DAXX DLST DNMT3A DSC2 DSG2 DTNA EMD EPAS1 FH GABRA3 GATA4 GATA6 GCGR GYG1 HNF1A ISCU JPH2 JUP KCNA5 KCND3 KCNE2 KCNH2 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNQ1 KIF1B MAX MDH2 MEN1 MYH6 MYL2 MYL3 MYL4 MYOZ2 NF1 NKX2-5 NPPA PKP2 PNPLA2 POLG POLG2 PRKAG2 PRKAR1A RET RRM2B SCN5A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SLC12A3 SLC25A11 SLC25A4 SLC4A3 TBX20 TECRL TERT TLL1 TMEM127 TMEM43 TP53 TWNK UCP2 VHL YY1 ZNRF3

Diseases (64) :ORPHA:276575 ORPHA:99103 OMIM:612098 OMIM:620067 ORPHA:100075 OMIM:616812 ORPHA:79102 OMIM:188580 ORPHA:51083 ORPHA:488650 OMIM:614321 ORPHA:892 OMIM:618920 ORPHA:91347 ORPHA:1501 ORPHA:99105 ORPHA:358 OMIM:602668 ORPHA:29072 ORPHA:276621 OMIM:610476 OMIM:610193 OMIM:604169 OMIM:310300 OMIM:619290 ORPHA:263297 ORPHA:324575 OMIM:255125 OMIM:613873 OMIM:601214 OMIM:612240 OMIM:616399 OMIM:611493 OMIM:609620 ORPHA:276580 OMIM:170390 ORPHA:37553 OMIM:613980 OMIM:609622 OMIM:613485 ORPHA:97279 OMIM:608758 OMIM:608751 OMIM:617280 OMIM:613838 ORPHA:1344 OMIM:615745 OMIM:609040 ORPHA:565612 ORPHA:254892 OMIM:600858 OMIM:194200 OMIM:171400 OMIM:601154 OMIM:133020 OMIM:115310 OMIM:605373 ORPHA:100093 OMIM:168000 OMIM:263800 OMIM:614021 ORPHA:99106 OMIM:604400 ORPHA:276556

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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