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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of acid-base homeostasis (HP:0004360)

..Starting node
..Alkalosis (HP:0001948)

Term ID:

1948

Name:

Alkalosis

Synonym:

Definition:

Depletion of acid or accumulation base in the body fluids.

Comments:

Reference:

HP:0001948

Genes and Diseases:

Child Nodes:

........

Hypokalemic alkalosis (HP:0001949)

................... HP:0001960 Hypokalemic metabolic alkalosis

........

Respiratory alkalosis (HP:0001950)

........

Hypochloremic metabolic alkalosis (HP:0005977)

................... HP:0004909 Hypokalemic hypochloremic metabolic alkalosis

........

Metabolic alkalosis (HP:0200114)

................... HP:0001960 Hypokalemic metabolic alkalosis

Sister Nodes:

Acidosis (HP:0001941)

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:0001948	HP:0001948	Alkalosis	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0001948	HP:0001948	Alkalosis	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria		81
HP:0001948	HP:0001948	Alkalosis	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0001948	HP:0001948	Alkalosis	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0001948	HP:0001948	Alkalosis	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0001948	HP:0001948	Alkalosis	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency		10
HP:0001948	HP:0001948	Alkalosis	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0001948	HP:0001948	Alkalosis	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0001948	HP:0001948	Alkalosis	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0001948	HP:0001948	Alkalosis	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0001948	HP:0001948	Alkalosis	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0001948	HP:0001948	Alkalosis	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0001948	HP:0001948	Alkalosis	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0001948	HP:0001948	Alkalosis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0001948	HP:0001948	Alkalosis	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0001948	HP:0001948	Alkalosis	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to		124
HP:0001948	HP:0001948	Alkalosis	0	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency		53
HP:0001948	HP:0001948	Alkalosis	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001948	HP:0001948	Alkalosis	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0001948	HP:0001948	Alkalosis	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0001948	HP:0001948	Alkalosis	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001948	HP:0001948	Alkalosis	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0001948	HP:0001948	Alkalosis	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0001948	HP:0001948	Alkalosis	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0001948	HP:0001948	Alkalosis	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0001948	HP:0001948	Alkalosis	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0001948	HP:0001948	Alkalosis	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0001948	HP:0001948	Alkalosis	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized		79
HP:0001948	HP:0001948	Alkalosis	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0001948	HP:0001948	Alkalosis	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0001948	HP:0001948	Alkalosis	0	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3		67
HP:0001948	HP:0001948	Alkalosis	0	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1		61
HP:0001948	HP:0001948	Alkalosis	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0001948	HP:0001948	Alkalosis	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0001948	HP:0001948	Alkalosis	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0001948	HP:0001948	Alkalosis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0001948	HP:0001948	Alkalosis	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0001948	HP:0001948	Alkalosis	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0001948	HP:0001948	Alkalosis	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0001948	HP:0001950	Respiratory alkalosis	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0001948	HP:0001950	Respiratory alkalosis	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0001948	HP:0200114	Metabolic alkalosis	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0001948	HP:0005977	Hypochloremic metabolic alkalosis	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0001948	HP:0200114	Metabolic alkalosis	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0001948	HP:0001950	Respiratory alkalosis	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.	10
HP:0001948	HP:0200114	Metabolic alkalosis	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0001948	HP:0200114	Metabolic alkalosis	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0001948	HP:0200114	Metabolic alkalosis	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional	44
HP:0001948	HP:0005977	Hypochloremic metabolic alkalosis	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0001948	HP:0200114	Metabolic alkalosis	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0001948	HP:0200114	Metabolic alkalosis	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0001948	HP:0200114	Metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0001948	HP:0200114	Metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0001948	HP:0005977	Hypochloremic metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0001948	HP:0200114	Metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0001948	HP:0200114	Metabolic alkalosis	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0001948	HP:0001950	Respiratory alkalosis	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.	53
HP:0001948	HP:0200114	Metabolic alkalosis	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome		4
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0001948	HP:0200114	Metabolic alkalosis	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0001948	HP:0200114	Metabolic alkalosis	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0001948	HP:0200114	Metabolic alkalosis	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome		8
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0001948	HP:0200114	Metabolic alkalosis	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0001948	HP:0200114	Metabolic alkalosis	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0001948	HP:0200114	Metabolic alkalosis	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0001948	HP:0200114	Metabolic alkalosis	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional	128
HP:0001948	HP:0200114	Metabolic alkalosis	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0001948	HP:0200114	Metabolic alkalosis	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent	79
HP:0001948	HP:0200114	Metabolic alkalosis	1	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.	79
HP:0001948	HP:0001950	Respiratory alkalosis	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0001948	HP:0005977	Hypochloremic metabolic alkalosis	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0001948	HP:0200114	Metabolic alkalosis	1	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3	.	67
HP:0001948	HP:0200114	Metabolic alkalosis	1	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0001948	HP:0200114	Metabolic alkalosis	1	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2	.	57
HP:0001948	HP:0200114	Metabolic alkalosis	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0001948	HP:0001949	Hypokalemic alkalosis	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145
HP:0001948	HP:0200114	Metabolic alkalosis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0001948	HP:0001950	Respiratory alkalosis	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional	88
HP:0001948	HP:0200114	Metabolic alkalosis	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0001948	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0001948	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0001948	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent	14
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0001948	HP:0001960	Hypokalemic metabolic alkalosis	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0001948	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0001948	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	3	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0001948	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	3	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27

Genes (29) :AIP ASL ASS1 BSND CA5A CACNA1D CLCN2 CLCNKA CLCNKB CPS1 CYP17A1 HLA-B HSD11B2 IKZF1 KCNJ1 KCNJ10 KCNJ5 NARS2 NR3C1 OTC SARS2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC25A15 SLC26A3 USP8

Diseases (33) :OMIM:219090 OMIM:207900 OMIM:215700 OMIM:602522 ORPHA:89938 OMIM:615751 OMIM:615474 ORPHA:369929 ORPHA:404 OMIM:613090 OMIM:607364 ORPHA:358 OMIM:237300 OMIM:202110 ORPHA:36426 OMIM:218030 ORPHA:320 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:251274 OMIM:616239 ORPHA:786 OMIM:615962 OMIM:311250 OMIM:613845 OMIM:618126 OMIM:177200 OMIM:618114 OMIM:601678 OMIM:263800 ORPHA:415 OMIM:214700

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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