Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Severe lactic acidosis (HP:0004900)

Term ID:

4900

Name:

Severe lactic acidosis

Synonym:

Definition:

A severe form of lactic acidemia.

Comments:

Reference:

HP:0004900

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)

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:0004900	HP:0004900	Severe lactic acidosis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0004900	HP:0004900	Severe lactic acidosis	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0004900	HP:0004900	Severe lactic acidosis	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0004900	HP:0004900	Severe lactic acidosis	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0004900	HP:0004900	Severe lactic acidosis	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0004900	HP:0004900	Severe lactic acidosis	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0004900	HP:0004900	Severe lactic acidosis	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0004900	HP:0004900	Severe lactic acidosis	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0004900	HP:0004900	Severe lactic acidosis	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0004900	HP:0004900	Severe lactic acidosis	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent	101
HP:0004900	HP:0004900	Severe lactic acidosis	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0004900	HP:0004900	Severe lactic acidosis	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040282 - Frequent

Genes (12) :BCS1L COQ2 COX16 NDUFS4 PDHA1 PDSS2 RRM2B SLC25A26 SLC25A4 TRMU TRNE TRNT

Diseases (10) :OMIM:124000 ORPHA:255249 OMIM:619355 OMIM:252010 OMIM:312170 OMIM:612075 OMIM:616794 OMIM:615418 ORPHA:254864 ORPHA:254857

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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