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:
Ophthalmoplegia (HP:0000602)

Parent Node:
External ophthalmoplegia (HP:0000544)

..Starting node
..Progressive external ophthalmoplegia (HP:0000590)

Term ID:

590

Name:

Progressive external ophthalmoplegia

Synonym:

External ophthalmoplegia, progressive

Definition:

Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.

Comments:

Reference:

HP:0000590

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nonprogressive restrictive external ophthalmoplegia (HP:0007831)

Recurrent external ophthalmoplegia (HP:0007250)

Restrictive external ophthalmoplegia (HP:0007936)

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:0000590	HP:0000590	Progressive external ophthalmoplegia	0	APTX CL E G H	54840	208920	Ataxia-oculomotor apraxia type 1	208920	C1859598	OMIM	1	331	15984	606350
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	ATXN3 CL E G H	4287	276244				ORPHA	1	65	7106	607047
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	ATXN3 CL E G H	4287	276241				ORPHA	1	65	7106	607047
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	ATXN3 CL E G H	4287	276238				ORPHA	1	65	7106	607047
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	DGUOK CL E G H	1716	329314				ORPHA	1	239	2858	601465
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-ATP8 CL E G H	4509	480				ORPHA	1		7415	516070
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-TK CL E G H	4566	1349	Chromosome 9, partial monosomy 9p		C2931695	ORPHA	1		7489	590060
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-TL1 CL E G H	4567	480				ORPHA	1		7490	590050
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	MT-TT CL E G H	4576	254857				ORPHA	1		7499	590090
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	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:0000590	HP:0000590	Progressive external ophthalmoplegia	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	2324	9179	174763
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	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:0000590	HP:0000590	Progressive external ophthalmoplegia	0	RNASEH1 CL E G H	246243	329336				ORPHA	1	189	18466	604123
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	RRM2B CL E G H	50484	329336				ORPHA	1	354	17296	604712
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	RRM2B CL E G H	50484	480				ORPHA	1	354	17296	604712
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	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:0000590	HP:0000590	Progressive external ophthalmoplegia	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:0000590	HP:0000590	Progressive external ophthalmoplegia	0	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	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:0000590	HP:0000590	Progressive external ophthalmoplegia	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	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:
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	0	406	90	606885
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	OPA1 CL E G H	4976	165500	Dominant hereditary optic atrophy	165500	C0338508	OMIM	0	1224	8140	605290
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	TK2 CL E G H	7084	254875				ORPHA	0	442	11831	188250
HP:0000590	HP:0000590	Progressive external ophthalmoplegia	0	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802

Genes (32) :ACADS APTX ATP8 ATXN3 C1QBP DGUOK DNA2 MGME1 MT-ATP8 MT-TK MT-TL1 MT-TL2 MT-TN MT-TS1 MT-TT OPA1 POLG POLG2 RNASEH1 RRM2B SLC25A4 TK2 TOP3A TRNK TRNL1 TRNL2 TRNN TRNS1 TRNT TWNK TYMP VARS2

Diseases (32) :201470 208920 480 276241 276244 276238 617713 329314 617070 352470 615156 352447 615084 165500 157640 258450 603041 613662 607459 610131 329336 616479 613077 609283 254875 617069 618098 1349 663 254857 609286 615917

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

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