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 shape (HP:0012087)

Term ID:

12087

Name:

Abnormal mitochondrial shape

Synonym:

Definition:

An anomaly in the surface contour of mitochondria.

Comments:

Reference:

HP:0012087

Genes and Diseases:

Child Nodes:

........

Mitochondrial swelling (HP:0030774)

Sister Nodes:

Abnormal mitochondrial number (HP:0012102)

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:0012087	HP:0012087	Abnormal mitochondrial shape	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0012087	HP:0012087	Abnormal mitochondrial shape	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012087	HP:0012087	Abnormal mitochondrial shape	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0012087	HP:0012087	Abnormal mitochondrial shape	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0012087	HP:0012087	Abnormal mitochondrial shape	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0012087	HP:0012087	Abnormal mitochondrial shape	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0012087	HP:0012087	Abnormal mitochondrial shape	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional	60
HP:0012087	HP:0033686	Mitochondrial hypertrophy	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012087	HP:0030774	Mitochondrial swelling	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0012087	HP:0030774	Mitochondrial swelling	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227

Genes (7) :FDXR GGPS1 LYRM4 MFF MYH14 SLC25A3 SUCLG1

Diseases (7) :ORPHA:543470 OMIM:619518 OMIM:615595 ORPHA:485421 ORPHA:397744 OMIM:610773 ORPHA:17

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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