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:
Abnormality of cardiovascular system electrophysiology (HP:0030956)

Parent Node:
Arrhythmia (HP:0011675)

..Starting node
..Abnormal heart rate variability (HP:0031860)

Term ID:

31860

Name:

Abnormal heart rate variability

Synonym:

Definition:

Any abnormality in the variability of the time interval between successive heartbeats.

Comments:

Reference:

HP:0031860

Genes and Diseases:

Child Nodes:

........

Decreased heart rate variability (HP:0031861)

........

Increased heart rate variability (HP:0031862)

Sister Nodes:

Abnormal electrophysiology of sinoatrial node origin (HP:0011702)

Bradycardia (HP:0001662)

Cardiac arrest (HP:0001695)

Palpitations (HP:0001962)

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:0031860	HP:0031860	Abnormal heart rate variability	0	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness		51
HP:0031860	HP:0031860	Abnormal heart rate variability	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0031860	HP:0031860	Abnormal heart rate variability	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0031860	HP:0031860	Abnormal heart rate variability	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0031860	HP:0031860	Abnormal heart rate variability	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0031860	HP:0031860	Abnormal heart rate variability	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0031860	HP:0031860	Abnormal heart rate variability	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0031860	HP:0031860	Abnormal heart rate variability	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0031860	HP:0031860	Abnormal heart rate variability	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0031860	HP:0031860	Abnormal heart rate variability	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0031860	HP:0031860	Abnormal heart rate variability	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0031860	HP:0031860	Abnormal heart rate variability	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0031860	HP:0031860	Abnormal heart rate variability	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0031860	HP:0031860	Abnormal heart rate variability	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0031860	HP:0031860	Abnormal heart rate variability	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0031860	HP:0031860	Abnormal heart rate variability	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0031860	HP:0031860	Abnormal heart rate variability	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0031860	HP:0031860	Abnormal heart rate variability	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0031860	HP:0031860	Abnormal heart rate variability	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0031860	HP:0031860	Abnormal heart rate variability	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0031860	HP:0031860	Abnormal heart rate variability	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0031860	HP:0031860	Abnormal heart rate variability	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0031860	HP:0031860	Abnormal heart rate variability	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0031860	HP:0031860	Abnormal heart rate variability	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0031860	HP:0031860	Abnormal heart rate variability	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0031860	HP:0031860	Abnormal heart rate variability	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0031860	HP:0031860	Abnormal heart rate variability	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0031860	HP:0031860	Abnormal heart rate variability	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0031860	HP:0031860	Abnormal heart rate variability	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0031860	HP:0031860	Abnormal heart rate variability	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0031860	HP:0031860	Abnormal heart rate variability	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0031860	HP:0031862	Increased heart rate variability	1	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness		51
HP:0031860	HP:0031861	Decreased heart rate variability	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0031860	HP:0031861	Decreased heart rate variability	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0031860	HP:0031861	Decreased heart rate variability	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86

Genes (24) :CACNA1D CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GALC GAS1 GLI2 MADD NODAL PHOX2B PLCH1 PSAP PTCH1 SHH SIX3 SMC1A STAG2 STIL TDGF1 TGIF1 ZIC2

Diseases (9) :OMIM:614896 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:206436 OMIM:619004 OMIM:619005 OMIM:209880

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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