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:
Abnormal blood glucose concentration (HP:0011015)

Parent Node:
Hypoglycemia (HP:0001943)

..Starting node
..Nonketotic hypoglycemia (HP:0001958)

Term ID:

1958

Name:

Nonketotic hypoglycemia

Synonym:

Definition:

Comments:

Reference:

HP:0001958

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoglycemic seizures (HP:0002173)

Hypoketotic hypoglycemia (HP:0001985)

Ketotic hypoglycemia (HP:0012734)

Neonatal hypoglycemia (HP:0001998)

Reactive hypoglycemia (HP:0012051)

Recurrent hypoglycemia (HP:0001988)

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:0001958	HP:0001958	Nonketotic hypoglycemia	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional	98
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040281 - Very frequent	35
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001958	HP:0001958	Nonketotic hypoglycemia	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7

Genes (13) :ACAD9 ACADVL AKT2 CPT2 FGF20 GFRA1 GREB1L HMGCL ITGA8 MEN1 RET WNT9B YY1

Diseases (7) :ORPHA:99901 OMIM:201475 ORPHA:293964 OMIM:608836 ORPHA:1848 ORPHA:20 ORPHA:97279

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