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 glucose homeostasis (HP:0011014)

Parent Node:
Glucose intolerance (HP:0001952)

..Starting node
..Abnormal oral glucose tolerance (HP:0004924)

Term ID:

4924

Name:

Abnormal oral glucose tolerance

Synonym:

Abnormal glucose oral tolerance test

Definition:

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.

Comments:

Reference:

HP:0004924

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired glucose tolerance (HP:0040270)

obsolete Glucose intolerance (HP:0000833)

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:0004924	HP:0004924	Abnormal oral glucose tolerance	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent	245
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent	2
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent	75
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent	25
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent	237
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent	161
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent	138
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent	62
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent	127
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent	78
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent	32
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent	55
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent	30
HP:0004924	HP:0004924	Abnormal oral glucose tolerance	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74

Genes (14) :ABCC8 APPL1 BLK CEL GCK HNF1A HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 SLC5A1

Diseases (3) :ORPHA:552 ORPHA:276580 OMIM:606824

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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