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 circulating insulin concentration (HP:0040214)

Parent Node:
obsolete Abnormal circulating insulin level (HP:0040215)

..Starting node
..Hypoinsulinemia (HP:0040216)

Term ID:

40216

Name:

Hypoinsulinemia

Synonym:

Definition:

A decreased concentration of insulin in the blood.

Comments:

Reference:

HP:0040216

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperinsulinemia (HP:0000842)

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:0040216	HP:0040216	Hypoinsulinemia	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent	245
HP:0040216	HP:0040216	Hypoinsulinemia	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0040216	HP:0040216	Hypoinsulinemia	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent	2
HP:0040216	HP:0040216	Hypoinsulinemia	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent	75
HP:0040216	HP:0040216	Hypoinsulinemia	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent	25
HP:0040216	HP:0040216	Hypoinsulinemia	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040283 - Occasional	3
HP:0040216	HP:0040216	Hypoinsulinemia	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent	237
HP:0040216	HP:0040216	Hypoinsulinemia	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent	161
HP:0040216	HP:0040216	Hypoinsulinemia	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent	138
HP:0040216	HP:0040216	Hypoinsulinemia	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0040216	HP:0040216	Hypoinsulinemia	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent	62
HP:0040216	HP:0040216	Hypoinsulinemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent	127
HP:0040216	HP:0040216	Hypoinsulinemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0040216	HP:0040216	Hypoinsulinemia	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent	78
HP:0040216	HP:0040216	Hypoinsulinemia	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0040216	HP:0040216	Hypoinsulinemia	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent	32
HP:0040216	HP:0040216	Hypoinsulinemia	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent	55
HP:0040216	HP:0040216	Hypoinsulinemia	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent	30
HP:0040216	HP:0040216	Hypoinsulinemia	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0040216	HP:0040216	Hypoinsulinemia	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0040216	HP:0040216	Hypoinsulinemia	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare	1
HP:0040216	HP:0040216	Hypoinsulinemia	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	30

Genes (20) :ABCC8 APPL1 BLK CEL DMXL2 GCK HNF1A HNF4A HYMAI INS KCNJ11 KLF11 NAB2 NEUROD1 PAX4 PDX1 PLAGL1 RNF125 STAT6 ZFP57

Diseases (5) :ORPHA:552 ORPHA:99886 ORPHA:453533 ORPHA:2126 OMIM:616260

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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