Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 muscle physiology (HP:0011804)

Parent Node:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Functional motor deficit (HP:0004302)

..Starting node
..Easy fatigability (HP:0003388)

Term ID:

3388

Name:

Easy fatigability

Synonym:

Tired easily

Definition:

Increased susceptibility to fatigue.

Comments:

Reference:

HP:0003388

Genes and Diseases:

Child Nodes:

Sister Nodes:

Difficulty climbing stairs (HP:0003551)

Difficulty running (HP:0009046)

Difficulty standing (HP:0003698)

Difficulty walking (HP:0002355)

Exercise intolerance (HP:0003546)

Frequent falls (HP:0002359)

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:0003388	HP:0003388	Easy fatigability	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0003388	HP:0003388	Easy fatigability	0	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0003388	HP:0003388	Easy fatigability	0	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0003388	HP:0003388	Easy fatigability	0	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0003388	HP:0003388	Easy fatigability	0	AIP CL E G H	9049	2965				ORPHA	1	867	358	605555
HP:0003388	HP:0003388	Easy fatigability	0	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0003388	HP:0003388	Easy fatigability	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	986	939	603883
HP:0003388	HP:0003388	Easy fatigability	0	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	249	1512	114250
HP:0003388	HP:0003388	Easy fatigability	0	CDH23 CL E G H	64072	2965				ORPHA	1	4522	13733	605516
HP:0003388	HP:0003388	Easy fatigability	0	CDH23 CL E G H	64072	91347				ORPHA	1	4522	13733	605516
HP:0003388	HP:0003388	Easy fatigability	0	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0003388	HP:0003388	Easy fatigability	0	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0003388	HP:0003388	Easy fatigability	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0003388	HP:0003388	Easy fatigability	0	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0003388	HP:0003388	Easy fatigability	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0003388	HP:0003388	Easy fatigability	0	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0003388	HP:0003388	Easy fatigability	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0003388	HP:0003388	Easy fatigability	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0003388	HP:0003388	Easy fatigability	0	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0003388	HP:0003388	Easy fatigability	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0003388	HP:0003388	Easy fatigability	0	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0003388	HP:0003388	Easy fatigability	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0003388	HP:0003388	Easy fatigability	0	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0003388	HP:0003388	Easy fatigability	0	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0003388	HP:0003388	Easy fatigability	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0003388	HP:0003388	Easy fatigability	0	DCC CL E G H	1630	238722				ORPHA	1	259	2701	120470
HP:0003388	HP:0003388	Easy fatigability	0	DNAL4 CL E G H	10126	238722				ORPHA	1	32	2955	610565
HP:0003388	HP:0003388	Easy fatigability	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0003388	HP:0003388	Easy fatigability	0	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0003388	HP:0003388	Easy fatigability	0	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0003388	HP:0003388	Easy fatigability	0	FKBP14 CL E G H	55033	300179				ORPHA	1	220	18625	614505
HP:0003388	HP:0003388	Easy fatigability	0	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0003388	HP:0003388	Easy fatigability	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0003388	HP:0003388	Easy fatigability	0	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0003388	HP:0003388	Easy fatigability	0	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0003388	HP:0003388	Easy fatigability	0	MEN1 CL E G H	4221	2965				ORPHA	1	2173	7010	613733
HP:0003388	HP:0003388	Easy fatigability	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0003388	HP:0003388	Easy fatigability	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0003388	HP:0003388	Easy fatigability	0	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0003388	HP:0003388	Easy fatigability	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0003388	HP:0003388	Easy fatigability	0	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0003388	HP:0003388	Easy fatigability	0	NTN1 CL E G H	9423	238722				ORPHA	1	59	8029	601614
HP:0003388	HP:0003388	Easy fatigability	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0003388	HP:0003388	Easy fatigability	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0003388	HP:0003388	Easy fatigability	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0003388	HP:0003388	Easy fatigability	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003388	HP:0003388	Easy fatigability	0	PRKAR1A CL E G H	5573	615	Alopecia universalis onychodystrophy vitiligo			ORPHA	1	1131	9388	188830
HP:0003388	HP:0003388	Easy fatigability	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	582	26162	617220
HP:0003388	HP:0003388	Easy fatigability	0	RAD51 CL E G H	5888	238722				ORPHA	1	358	9817	179617
HP:0003388	HP:0003388	Easy fatigability	0	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0003388	HP:0003388	Easy fatigability	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0003388	HP:0003388	Easy fatigability	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0003388	HP:0003388	Easy fatigability	0	RYR1 CL E G H	6261	597				ORPHA	1	6164	10483	180901
HP:0003388	HP:0003388	Easy fatigability	0	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0003388	HP:0003388	Easy fatigability	0	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0003388	HP:0003388	Easy fatigability	0	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0003388	HP:0003388	Easy fatigability	0	SDHA CL E G H	6389	3208				ORPHA	1	2503	10680	600857
HP:0003388	HP:0003388	Easy fatigability	0	SDHAF1 CL E G H	644096	3208				ORPHA	1	77	33867	612848
HP:0003388	HP:0003388	Easy fatigability	0	SDHB CL E G H	6390	3208				ORPHA	1	1249	10681	185470
HP:0003388	HP:0003388	Easy fatigability	0	SDHD CL E G H	6392	3208				ORPHA	1	686	10683	602690
HP:0003388	HP:0003388	Easy fatigability	0	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0003388	HP:0003388	Easy fatigability	0	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0003388	HP:0003388	Easy fatigability	0	SLC25A1 CL E G H	6576	618197	MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	618197		OMIM	1	568	10979	190315
HP:0003388	HP:0003388	Easy fatigability	0	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0003388	HP:0003388	Easy fatigability	0	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0003388	HP:0003388	Easy fatigability	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0003388	HP:0003388	Easy fatigability	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0003388	HP:0003388	Easy fatigability	0	SURF1 CL E G H	6834	616684	Charcot-Marie-Tooth disease, type 4k	616684	C4225246	OMIM	1	532	11474	185620
HP:0003388	HP:0003388	Easy fatigability	0	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0003388	HP:0003388	Easy fatigability	0	SYT2 CL E G H	127833	616040	Myasthenic syndrome, congenital, 7, presynaptic	616040	C4015038	OMIM	1	232	11510	600104
HP:0003388	HP:0003388	Easy fatigability	0	TDP2 CL E G H	51567	616949	Spinocerebellar ataxia, autosomal recessive 23	616949	C4310780	OMIM	1	55	17768	605764
HP:0003388	HP:0003388	Easy fatigability	0	TGFB1 CL E G H	7040	131300	Diaphyseal dysplasia	131300	C0011989	OMIM	1	286	11766	190180
HP:0003388	HP:0003388	Easy fatigability	0	TMEM126B CL E G H	55863	618250	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	618250		OMIM	1	116	30883	615533
HP:0003388	HP:0003388	Easy fatigability	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0003388	HP:0003388	Easy fatigability	0	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003388	HP:0003388	Easy fatigability	0	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0003388	HP:0003388	Easy fatigability	0	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0003388	HP:0003388	Easy fatigability	0	COLQ CL E G H	8292	98915				ORPHA	0	542	2226	603033
HP:0003388	HP:0003388	Easy fatigability	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0003388	HP:0003388	Easy fatigability	0	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0003388	HP:0003388	Easy fatigability	0	GMPPB CL E G H	29925	363623				ORPHA	0	364	22932	615320
HP:0003388	HP:0003388	Easy fatigability	0	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0003388	HP:0003388	Easy fatigability	0	LAMB2 CL E G H	3913	98915				ORPHA	0	915	6487	150325
HP:0003388	HP:0003388	Easy fatigability	0	MYPN CL E G H	84665	171881				ORPHA	0	1485	23246	608517
HP:0003388	HP:0003388	Easy fatigability	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0003388	HP:0003388	Easy fatigability	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0003388	HP:0003388	Easy fatigability	0	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0003388	HP:0003388	Easy fatigability	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0003388	HP:0003388	Easy fatigability	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0003388	HP:0003388	Easy fatigability	0	TPM2 CL E G H	7169	171881				ORPHA	0	341	12011	190990
HP:0003388	HP:0003388	Easy fatigability	0	TPM3 CL E G H	7170	171881				ORPHA	0	343	12012	191030
HP:0003388	HP:0003388	Easy fatigability	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075

Genes (64) :AGK AGRN AIP AK9 ALG14 ALG2 BAG3 CASQ1 CDH23 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DCC DNAL4 DNM2 DOK7 DPAGT1 FKBP14 GFPT1 GMPPB LAMB2 LRP4 MAP3K20 MEN1 MGME1 MUSK MYO9A MYPN NTN1 PNPLA2 POLG POLG2 POMT1 PRKAR1A PYROXD1 RAD51 RAPSN RRM2B RYR1 SCN4A SDHA SDHAF1 SDHB SDHD SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 STIM1 SURF1 SYT2 TDP2 TGFB1 TMEM126B TPM2 TPM3 TWNK TYMP VAMP1

Diseases (50) :212350 98914 98913 615120 2965 353327 612954 616231 91347 608930 616313 616321 616322 605809 616324 608931 98915 603034 238722 160150 254300 300179 610542 363623 617760 352447 615084 616325 171881 98908 610717 254892 298 86812 609308 615 617258 616326 597 424107 614198 3208 618197 616330 160565 616684 616040 616949 131300 618250

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

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