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
..Insulin insensitivity (HP:0008189)

Term ID:

8189

Name:

Insulin insensitivity

Synonym:

Definition:

Decreased sensitivity toward insulin.

Comments:

Reference:

HP:0008189

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)

Increased proinsulin:insulin ratio (HP:0031883)

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:0008189	HP:0008189	Insulin insensitivity	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0008189	HP:0008189	Insulin insensitivity	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0008189	HP:0008189	Insulin insensitivity	0	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD		53

Genes (3) :AR CNBP IGFALS

Diseases (3) :ORPHA:90797 OMIM:602668 OMIM:615961

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