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
..Increased proinsulin:insulin ratio (HP:0031883)

Term ID:

31883

Name:

Increased proinsulin:insulin ratio

Synonym:

Definition:

An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.

Comments:

Reference:

HP:0031883

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)

Impaired gluconeogenesis (HP:0005959)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031883	HP:0031883	Increased proinsulin:insulin ratio	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia	194
HP:0031883	HP:0031883	Increased proinsulin:insulin ratio	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia	177

Genes (2) :PAX6 WT1

Diseases (1) :OMIM:106210

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