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:
Chronic acidosis (HP:0012468)

Parent Node:
Lactic acidosis (HP:0003128)

..Starting node
..Chronic lactic acidosis (HP:0004925)

Term ID:

4925

Name:

Chronic lactic acidosis

Synonym:

Definition:

A chronic form of lactic acidemia.

Comments:

Reference:

HP:0004925

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

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

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:0004925	HP:0004925	Chronic lactic acidosis	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0004925	HP:0004925	Chronic lactic acidosis	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88

Genes (2) :BCS1L PDHA1

Diseases (2) :OMIM:603358 OMIM:312170

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