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:
Muscle abnormality related to mitochondrial dysfunction (HP:0003800)

Parent Node:
Depletion of mitochondrial DNA in muscle tissue (HP:0009141)

..Starting node
..Multiple mitochondrial DNA deletions (HP:0003689)

Term ID:

3689

Name:

Multiple mitochondrial DNA deletions

Synonym:

Multiple mtDNA deletions

Definition:

The presence of multiple deletions of mitochondrial DNA (mtDNA).

Comments:

Reference:

HP:0003689

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	1	354	17296	604712
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003689	HP:0003689	Multiple mitochondrial DNA deletions	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (6) :POLG POLG2 RRM2B SLC25A4 TWNK TYMP

Diseases (8) :157640 258450 603041 607459 610131 613077 609283 609286

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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