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

..Starting node
..Abnormal blood carbon dioxide level (HP:0500164)

Term ID:

500164

Name:

Abnormal blood carbon dioxide level

Synonym:

Abnormal blood carbon dioxide level; Abnormal CO2 levels in blood

Definition:

An abnormality of carbon dioxide (CO2) in the arterial blood.

Comments:

Reference:

HP:0500164

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5		247
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0500164	HP:0500164	Abnormal blood carbon dioxide level	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0500164	HP:0012416	Hypercapnia	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0500164	HP:0012416	Hypercapnia	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	247
HP:0500164	HP:0012416	Hypercapnia	1	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5	.	247
HP:0500164	HP:0012416	Hypercapnia	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0500164	HP:0012416	Hypercapnia	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0500164	HP:0012416	Hypercapnia	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0500164	HP:0012416	Hypercapnia	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0500164	HP:0012416	Hypercapnia	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0500164	HP:0012416	Hypercapnia	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0500164	HP:0012416	Hypercapnia	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.	86
HP:0500164	HP:0012417	Hypocapnia	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0500164	HP:0012416	Hypercapnia	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent	1200
HP:0500164	HP:0012416	Hypercapnia	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0500164	HP:0012416	Hypercapnia	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0500164	HP:0012416	Hypercapnia	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108

Genes (13) :ACTA1 CACNA1S HACD1 ITGA7 LRP12 MAP3K20 MYL2 NDUFS8 PHOX2B RYR1 SELENON TPM2 TPM3

Diseases (7) :ORPHA:2020 ORPHA:423 OMIM:601887 OMIM:164310 OMIM:618222 OMIM:209880 ORPHA:466650

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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