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
..Nocturnal hypoventilation (HP:0002877)

Term ID:

2877

Name:

Nocturnal hypoventilation

Synonym:

Hypoventilation during sleep; Nocturnal hypopnea; Nocturnal slow breathing; Nocturnal under breathing

Definition:

An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.

Comments:

Reference:

HP:0002877

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central hypoventilation (HP:0007110)

Episodic hypoventilation (HP:0004881)

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:0002877	HP:0002877	Nocturnal hypoventilation	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	1269
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	144
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent	7128
HP:0002877	HP:0002877	Nocturnal hypoventilation	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128

Genes (17) :ACTA1 CFL2 COL12A1 COL6A1 COL6A2 COL6A3 FKRP HNRNPK KLHL41 LMOD3 MYH7 NEB PHOX2B SELENON SLC52A3 TPM2 TTN

Diseases (11) :ORPHA:171436 OMIM:616470 OMIM:254090 OMIM:607155 ORPHA:352665 ORPHA:453504 ORPHA:324604 OMIM:209880 OMIM:602771 OMIM:211530 OMIM:603689

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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