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:
Abnormality of the mitochondrion (HP:0012103)

Parent Node:
Abnormal mitochondrial morphology (HP:0008322)

..Starting node
..Abnormal mitochondrial number (HP:0012102)

Term ID:

12102

Name:

Abnormal mitochondrial number

Synonym:

Definition:

A deviation from the normal number of mitochondria per cell.

Comments:

Reference:

HP:0012102

Genes and Diseases:

Child Nodes:

........

Decreased mitochondrial number (HP:0040013)

........

Increased mitochondrial number (HP:0040014)

Sister Nodes:

Abnormal mitochondrial shape (HP:0012087)

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:0012102	HP:0012102	Abnormal mitochondrial number	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0012102	HP:0012102	Abnormal mitochondrial number	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0012102	HP:0012102	Abnormal mitochondrial number	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0012102	HP:0012102	Abnormal mitochondrial number	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0012102	HP:0012102	Abnormal mitochondrial number	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012102	HP:0040014	Increased mitochondrial number	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0012102	HP:0040013	Decreased mitochondrial number	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0012102	HP:0040014	Increased mitochondrial number	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0012102	HP:0040013	Decreased mitochondrial number	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0012102	HP:0040014	Increased mitochondrial number	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19

Genes (5) :CHCHD10 DNA2 GYG1 MGME1 PET117

Diseases (5) :ORPHA:457050 ORPHA:352470 ORPHA:263297 ORPHA:352447 OMIM:619063

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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