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 carbohydrate concentration (HP:0011013)

Parent Node:
Abnormal glucose homeostasis (HP:0011014)

..Starting node
..Impaired gluconeogenesis (HP:0005959)

Term ID:

5959

Name:

Impaired gluconeogenesis

Synonym:

Gluconeogenesis impaired

Definition:

An impairment of gluconeogenesis.

Comments:

Reference:

HP:0005959

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal blood glucose concentration (HP:0011015)

Abnormal circulating C-peptide concentration (HP:0030794)

Diabetes mellitus (HP:0000819)

Glucose intolerance (HP:0001952)

Hyperinsulinemia (HP:0000842)

Increased proinsulin:insulin ratio (HP:0031883)

Insulin insensitivity (HP:0008189)

Insulin resistance (HP:0000855)

obsolete Abnormality of urine glucose concentration (HP:0011016)

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:0005959	HP:0005959	Impaired gluconeogenesis	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0005959	HP:0005959	Impaired gluconeogenesis	0	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.	6
HP:0005959	HP:0005959	Impaired gluconeogenesis	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207

Genes (3) :PCK1 PCK2 SLC22A5

Diseases (3) :OMIM:261680 OMIM:261650 OMIM:212140

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