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 pattern of respiration (HP:0002793)

Parent Node:
Hypoventilation (HP:0002791)

..Starting node
..Central hypoventilation (HP:0007110)

Term ID:

7110

Name:

Central hypoventilation

Synonym:

Definition:

Comments:

Reference:

HP:0007110

Genes and Diseases:

Child Nodes:

Sister Nodes:

Episodic hypoventilation (HP:0004881)

Nocturnal hypoventilation (HP:0002877)

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:0007110	HP:0007110	Central hypoventilation	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	15
HP:0007110	HP:0007110	Central hypoventilation	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0007110	HP:0007110	Central hypoventilation	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent	86
HP:0007110	HP:0007110	Central hypoventilation	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:0007110	HP:0007110	Central hypoventilation	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0007110	HP:0007110	Central hypoventilation	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0007110	HP:0007110	Central hypoventilation	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0007110	HP:0007110	Central hypoventilation	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.	26
HP:0007110	HP:0007110	Central hypoventilation	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0007110	HP:0007110	Central hypoventilation	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0007110	HP:0007110	Central hypoventilation	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0007110	HP:0007110	Central hypoventilation	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0007110	HP:0007110	Central hypoventilation	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	86
HP:0007110	HP:0007110	Central hypoventilation	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	572
HP:0007110	HP:0007110	Central hypoventilation	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0007110	HP:0007110	Central hypoventilation	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0007110	HP:0007110	Central hypoventilation	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0007110	HP:0007110	Central hypoventilation	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108

Genes (16) :ASCL1 DCTN1 HOXA1 LBX1 MECP2 MYPN NDUFAF2 NDUFAF3 NDUFB8 NDUFS2 PHOX2B RET SCO2 SURF1 TPM2 TPM3

Diseases (10) :ORPHA:99803 OMIM:168605 ORPHA:178509 OMIM:601536 OMIM:619483 OMIM:300673 ORPHA:171881 OMIM:618233 ORPHA:70474 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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