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 nervous system physiology (HP:0012638)

Parent Node:
Encephalopathy (HP:0001298)

..Starting node
..Hypoglycemic encephalopathy (HP:0006929)

Term ID:

6929

Name:

Hypoglycemic encephalopathy

Synonym:

Definition:

Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.

Comments:

Reference:

HP:0006929

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute encephalopathy (HP:0006846)

Congenital encephalopathy (HP:0007239)

Epileptic encephalopathy (HP:0200134)

Hepatic encephalopathy (HP:0002480)

Infantile encephalopathy (HP:0007105)

Mitochondrial encephalopathy (HP:0006789)

Necrotizing encephalopathy (HP:0006976)

Nonprogressive encephalopathy (HP:0007030)

Progressive encephalopathy (HP:0002448)

Recurrent encephalopathy (HP:0007335)

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:0006929	HP:0006929	Hypoglycemic encephalopathy	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	90
HP:0006929	HP:0006929	Hypoglycemic encephalopathy	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0006929	HP:0006929	Hypoglycemic encephalopathy	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0006929	HP:0006929	Hypoglycemic encephalopathy	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41

Genes (3) :ACADS CPT2 HADH

Diseases (4) :ORPHA:26792 ORPHA:228305 OMIM:231530 ORPHA:71212

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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