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:
Abnormal cellular physiology (HP:0011017)

Parent Node:
Abnormality of the mitochondrion (HP:0012103)

..Starting node
..Abnormal mitochondrial morphology (HP:0008322)

Term ID:

8322

Name:

Abnormal mitochondrial morphology

Synonym:

Abnormal mitochondrion morphology

Definition:

Any structural anomaly of the mitochondria.

Comments:

Reference:

HP:0008322

Genes and Diseases:

Child Nodes:

........

Abnormal mitochondrial shape (HP:0012087)

................... HP:0030774 Mitochondrial swelling

........

Abnormal mitochondrial number (HP:0012102)

................... HP:0040013 Decreased mitochondrial number
................... HP:0040014 Increased mitochondrial number

Sister Nodes:

Abnormality of mitochondrial metabolism (HP:0003287)

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:0008322	HP:0008322	Abnormal mitochondrial morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040282 - Frequent
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0008322	HP:0008322	Abnormal mitochondrial morphology	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63
HP:0008322	HP:0012102	Abnormal mitochondrial number	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0008322	HP:0012102	Abnormal mitochondrial number	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0008322	HP:0012087	Abnormal mitochondrial shape	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0008322	HP:0012087	Abnormal mitochondrial shape	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0008322	HP:0012102	Abnormal mitochondrial number	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0008322	HP:0012087	Abnormal mitochondrial shape	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0008322	HP:0012087	Abnormal mitochondrial shape	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0008322	HP:0012102	Abnormal mitochondrial number	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0008322	HP:0012087	Abnormal mitochondrial shape	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0008322	HP:0012102	Abnormal mitochondrial number	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0008322	HP:0012087	Abnormal mitochondrial shape	1	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0008322	HP:0012087	Abnormal mitochondrial shape	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0008322	HP:0040014	Increased mitochondrial number	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0008322	HP:0040013	Decreased mitochondrial number	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0008322	HP:0033686	Mitochondrial hypertrophy	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0008322	HP:0040014	Increased mitochondrial number	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent	18
HP:0008322	HP:0030774	Mitochondrial swelling	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0008322	HP:0040013	Decreased mitochondrial number	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0008322	HP:0030774	Mitochondrial swelling	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0008322	HP:0040014	Increased mitochondrial number	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19

Genes (23) :C9ORF72 CHCHD10 DNA2 FDXR FUS GGPS1 GYG1 HSD17B10 LYRM4 MFF MGME1 MRPS14 MYH14 PET117 POLG2 SLC25A3 SPG7 SQSTM1 SUCLG1 TAFAZZIN TARDBP TBK1 VCP

Diseases (19) :ORPHA:275872 ORPHA:457050 ORPHA:352470 ORPHA:543470 OMIM:619518 ORPHA:263297 OMIM:300438 OMIM:615595 ORPHA:485421 ORPHA:352447 OMIM:618378 ORPHA:397744 OMIM:619063 OMIM:618528 OMIM:610773 ORPHA:99013 ORPHA:17 ORPHA:111 OMIM:302060

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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