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)

Grandparent Node:
Ketosis (HP:0001946)

Parent Node:
Ketoacidosis (HP:0001993)

..Starting node
..Episodic ketoacidosis (HP:0005974)

Term ID:

5974

Name:

Episodic ketoacidosis

Synonym:

Ketoacidosis, episodic

Definition:

Intermittent episodes of ketoacidosis.

Comments:

Reference:

HP:0005974

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diabetic ketoacidosis (HP:0001953)

Metabolic ketoacidosis (HP:0005979)

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:0005974	HP:0005974	Episodic ketoacidosis	0	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.	91
HP:0005974	HP:0005974	Episodic ketoacidosis	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.	12
HP:0005974	HP:0005974	Episodic ketoacidosis	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency		52
HP:0005974	HP:0005974	Episodic ketoacidosis	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66

Genes (4) :ACAT1 CYC1 OXCT1 SHOX

Diseases (4) :OMIM:203750 OMIM:615453 OMIM:245050 ORPHA:314795

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