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:
Metabolic acidosis (HP:0001942)

..Starting node
..Chronic metabolic acidosis (HP:0001996)

Term ID:

1996

Name:

Chronic metabolic acidosis

Synonym:

Definition:

Longstanding metabolic acidosis.

Comments:

Reference:

HP:0001996

Genes and Diseases:

Child Nodes:

Sister Nodes:

Episodic metabolic acidosis (HP:0004911)

Hyperkalemic metabolic acidosis (HP:0005976)

Metabolic ketoacidosis (HP:0005979)

Mixed respiratory and metabolic acidosis (HP:0005967)

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:0001996	HP:0001996	Chronic metabolic acidosis	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.	39

Genes (1) :GSS

Diseases (1) :OMIM:266130

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