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:
Acidosis (HP:0001941)

Parent Node:
Lactic acidosis (HP:0003128)

..Starting node
..Stress/infection-induced lactic acidosis (HP:0004897)

Term ID:

4897

Name:

Stress/infection-induced lactic acidosis

Synonym:

Metabolic crises during febrile infections

Definition:

A form of lactic acidemia that occurs in relation to stress or infection.

Comments:

Reference:

HP:0004897

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic lactic acidosis (HP:0004925)

Congenital lactic acidosis (HP:0004902)

Exercise-induced lactic acidemia (HP:0004901)

Intermittent lactic acidemia (HP:0004913)

Lacticaciduria (HP:0003648)

Persistent lactic acidosis (HP:0004898)

Severe lactic acidosis (HP:0004900)

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:0004897	HP:0004897	Stress/infection-induced lactic acidosis	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0004897	HP:0004897	Stress/infection-induced lactic acidosis	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0004897	HP:0004897	Stress/infection-induced lactic acidosis	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10

Genes (3) :NADK2 SDHA UQCRFS1

Diseases (3) :ORPHA:431361 OMIM:252011 OMIM:618775

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