Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Seizure (HP:0001250)

Parent Node:
Hypoglycemia (HP:0001943)

Parent Node:
Symptomatic seizures (HP:0011145)

..Starting node
..Hypoglycemic seizures (HP:0002173)

Term ID:

2173

Name:

Hypoglycemic seizures

Synonym:

Definition:

Comments:

Reference:

HP:0002173

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypocalcemic seizures (HP:0002199)

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:0002173	HP:0002173	Hypoglycemic seizures	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0002173	HP:0002173	Hypoglycemic seizures	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0002173	HP:0002173	Hypoglycemic seizures	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0002173	HP:0002173	Hypoglycemic seizures	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	237
HP:0002173	HP:0002173	Hypoglycemic seizures	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0002173	HP:0002173	Hypoglycemic seizures	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0002173	HP:0002173	Hypoglycemic seizures	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.	41
HP:0002173	HP:0002173	Hypoglycemic seizures	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0002173	HP:0002173	Hypoglycemic seizures	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent	161
HP:0002173	HP:0002173	Hypoglycemic seizures	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0002173	HP:0002173	Hypoglycemic seizures	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0002173	HP:0002173	Hypoglycemic seizures	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0002173	HP:0002173	Hypoglycemic seizures	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0002173	HP:0002173	Hypoglycemic seizures	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0002173	HP:0002173	Hypoglycemic seizures	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0002173	HP:0002173	Hypoglycemic seizures	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0002173	HP:0002173	Hypoglycemic seizures	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0002173	HP:0002173	Hypoglycemic seizures	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0002173	HP:0002173	Hypoglycemic seizures	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0002173	HP:0002173	Hypoglycemic seizures	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0002173	HP:0002173	Hypoglycemic seizures	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0002173	HP:0002173	Hypoglycemic seizures	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0002173	HP:0002173	Hypoglycemic seizures	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002173	HP:0002173	Hypoglycemic seizures	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040282 - Frequent	57
HP:0002173	HP:0002173	Hypoglycemic seizures	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0002173	HP:0002173	Hypoglycemic seizures	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15

Genes (22) :ABCC8 AKT2 GCK GLUD1 HADH HNF1A INSR KCNJ11 MC2R MRAP NNT PCSK1 POGZ POMC PROP1 SLC16A1 SLC37A4 STAR TANGO2 TBX19 TXNRD2 UCP2

Diseases (22) :ORPHA:276575 OMIM:256450 ORPHA:293964 OMIM:602485 OMIM:606762 OMIM:231530 OMIM:609975 ORPHA:71212 ORPHA:324575 OMIM:609968 ORPHA:276580 ORPHA:361 ORPHA:71528 OMIM:616364 ORPHA:71526 OMIM:609734 OMIM:262600 OMIM:610021 ORPHA:79259 ORPHA:480864 ORPHA:199296 ORPHA:276556

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen