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:
Abnormality of coordination (HP:0011443)

Parent Node:
Functional motor deficit (HP:0004302)

Parent Node:
Incoordination (HP:0002311)

..Starting node
..Frequent falls (HP:0002359)

Term ID:

2359

Name:

Frequent falls

Synonym:

Frequent falls

Definition:

Comments:

Reference:

HP:0002359

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clumsiness (HP:0002312)

Poor coordination (HP:0002370)

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:0002359	HP:0002359	Frequent falls	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0002359	HP:0002359	Frequent falls	0	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	1	144	28287	612866
HP:0002359	HP:0002359	Frequent falls	0	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0002359	HP:0002359	Frequent falls	0	ARSA CL E G H	410	309263				ORPHA	1	1140	713	607574
HP:0002359	HP:0002359	Frequent falls	0	ARSA CL E G H	410	309256				ORPHA	1	1140	713	607574
HP:0002359	HP:0002359	Frequent falls	0	ARSA CL E G H	410	309271				ORPHA	1	1140	713	607574
HP:0002359	HP:0002359	Frequent falls	0	ASAH1 CL E G H	427	159950	Jankovic Rivera syndrome	159950	C1834569	OMIM	1	913	735	613468
HP:0002359	HP:0002359	Frequent falls	0	ATP2B3 CL E G H	492	314978				ORPHA	1	352	816	300014
HP:0002359	HP:0002359	Frequent falls	0	B4GALNT1 CL E G H	2583	609195	Spastic paraplegia 26	609195	C1836632	OMIM	1	295	4117	601873
HP:0002359	HP:0002359	Frequent falls	0	C19orf12 CL E G H	83636	289560				ORPHA	1	307	25443	614297
HP:0002359	HP:0002359	Frequent falls	0	COL12A1 CL E G H	1303	75840				ORPHA	1	2548	2188	120320
HP:0002359	HP:0002359	Frequent falls	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1718	2211	120220
HP:0002359	HP:0002359	Frequent falls	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1928	2212	120240
HP:0002359	HP:0002359	Frequent falls	0	COL6A3 CL E G H	1293	75840				ORPHA	1	3001	2213	120250
HP:0002359	HP:0002359	Frequent falls	0	COQ2 CL E G H	27235	227510				ORPHA	1	346	25223	609825
HP:0002359	HP:0002359	Frequent falls	0	COQ2 CL E G H	27235	98933				ORPHA	1	346	25223	609825
HP:0002359	HP:0002359	Frequent falls	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	100	25613	616120
HP:0002359	HP:0002359	Frequent falls	0	DAB1 CL E G H	1600	615945	Spinocerebellar ataxia 37	615945	C3889636	OMIM	1	107	2661	603448
HP:0002359	HP:0002359	Frequent falls	0	DNAJC13 CL E G H	23317	411602				ORPHA	1	237	30343	614334
HP:0002359	HP:0002359	Frequent falls	0	DYNC1H1 CL E G H	1778	614228	Charcot-Marie-Tooth disease, axonal, type 2O	614228	C3280220	OMIM	1	3787	2961	600112
HP:0002359	HP:0002359	Frequent falls	0	EIF4G1 CL E G H	1981	411602				ORPHA	1	147	3296	600495
HP:0002359	HP:0002359	Frequent falls	0	FA2H CL E G H	79152	171629				ORPHA	1	381	21197	611026
HP:0002359	HP:0002359	Frequent falls	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	586	3702	300163
HP:0002359	HP:0002359	Frequent falls	0	FIG4 CL E G H	9896	611228	Charcot-Marie-Tooth disease, type 4J	611228	C1970011	OMIM	1	926	16873	609390
HP:0002359	HP:0002359	Frequent falls	0	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0002359	HP:0002359	Frequent falls	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0002359	HP:0002359	Frequent falls	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0002359	HP:0002359	Frequent falls	0	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0002359	HP:0002359	Frequent falls	0	GBA CL E G H	2629	411602				ORPHA	1		4177	606463
HP:0002359	HP:0002359	Frequent falls	0	GIGYF2 CL E G H	26058	411602				ORPHA	1	338	11960	612003
HP:0002359	HP:0002359	Frequent falls	0	GJB1 CL E G H	2705	1175	CDK4 linked melanoma			ORPHA	1	860	4283	304040
HP:0002359	HP:0002359	Frequent falls	0	GLRA1 CL E G H	2741	149400	Hyperekplexia hereditary	149400	C1835614	OMIM	1	447	4326	138491
HP:0002359	HP:0002359	Frequent falls	0	GPHN CL E G H	10243	149400	Hyperekplexia hereditary	149400	C1835614	OMIM	1	1473	15465	603930
HP:0002359	HP:0002359	Frequent falls	0	GRM1 CL E G H	2911	617691	SPINOCEREBELLAR ATAXIA 44	617691	C4521563	OMIM	1	298	4593	604473
HP:0002359	HP:0002359	Frequent falls	0	HINT1 CL E G H	3094	324442				ORPHA	1	139	4912	601314
HP:0002359	HP:0002359	Frequent falls	0	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0002359	HP:0002359	Frequent falls	0	KIF1C CL E G H	10749	397946				ORPHA	1	579	6317	603060
HP:0002359	HP:0002359	Frequent falls	0	KIF1C CL E G H	10749	611302	Ataxia, spastic, 2, autosomal recessive	611302	C1969796	OMIM	1	579	6317	603060
HP:0002359	HP:0002359	Frequent falls	0	LRRK2 CL E G H	120892	411602				ORPHA	1	2948	18618	609007
HP:0002359	HP:0002359	Frequent falls	0	MFN2 CL E G H	9927	99947				ORPHA	1	1222	16877	608507
HP:0002359	HP:0002359	Frequent falls	0	MRE11 CL E G H	4361	604391	Ataxia-telangiectasia-like disorder 1	604391	C1858391	OMIM	1	1911	7230	600814
HP:0002359	HP:0002359	Frequent falls	0	MTPAP CL E G H	55149	254343				ORPHA	1	346	25532	613669
HP:0002359	HP:0002359	Frequent falls	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0002359	HP:0002359	Frequent falls	0	NEFH CL E G H	4744	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	616924	C4310790	OMIM	1	714	7737	162230
HP:0002359	HP:0002359	Frequent falls	0	NOL3 CL E G H	8996	614937	Myoclonus, familial cortical	614937	C3539916	OMIM	1	57	7869	605235
HP:0002359	HP:0002359	Frequent falls	0	PANK2 CL E G H	80025	216866				ORPHA	1	499	15894	606157
HP:0002359	HP:0002359	Frequent falls	0	PDE10A CL E G H	10846	494526				ORPHA	1	222	8772	610652
HP:0002359	HP:0002359	Frequent falls	0	PDE10A CL E G H	10846	616921	Dyskinesia, limb and orofacial, infantile-onset	616921	C4310792	OMIM	1	222	8772	610652
HP:0002359	HP:0002359	Frequent falls	0	PIK3R5 CL E G H	23533	615217	Ataxia-oculomotor apraxia 3	615217	C3554690	OMIM	1	90	30035	611317
HP:0002359	HP:0002359	Frequent falls	0	PLEC CL E G H	5339	254361				ORPHA	1	5068	9069	601282
HP:0002359	HP:0002359	Frequent falls	0	PMP2 CL E G H	5375	618279	618279	618279		OMIM	1	126	9117	170715
HP:0002359	HP:0002359	Frequent falls	0	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0002359	HP:0002359	Frequent falls	0	PSAP CL E G H	5660	309263				ORPHA	1	772	9498	176801
HP:0002359	HP:0002359	Frequent falls	0	PSAP CL E G H	5660	309256				ORPHA	1	772	9498	176801
HP:0002359	HP:0002359	Frequent falls	0	PSAP CL E G H	5660	309271				ORPHA	1	772	9498	176801
HP:0002359	HP:0002359	Frequent falls	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	582	26162	617220
HP:0002359	HP:0002359	Frequent falls	0	RNU12 CL E G H	267010	512260				ORPHA	1	17	19380	0
HP:0002359	HP:0002359	Frequent falls	0	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0002359	HP:0002359	Frequent falls	0	SCYL1 CL E G H	57410	466794				ORPHA	1	128	14372	607982
HP:0002359	HP:0002359	Frequent falls	0	SCYL1 CL E G H	57410	616719	Spinocerebellar ataxia, autosomal recessive 21	616719	C4225236	OMIM	1	128	14372	607982
HP:0002359	HP:0002359	Frequent falls	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	628	10805	600119
HP:0002359	HP:0002359	Frequent falls	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	549	10809	608896
HP:0002359	HP:0002359	Frequent falls	0	SLC25A1 CL E G H	6576	618197	MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC	618197		OMIM	1	568	10979	190315
HP:0002359	HP:0002359	Frequent falls	0	SNCA CL E G H	6622	411602				ORPHA	1	193	11138	163890
HP:0002359	HP:0002359	Frequent falls	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	635	11386	605921
HP:0002359	HP:0002359	Frequent falls	0	VCP CL E G H	7415	329478				ORPHA	1	607	12666	601023
HP:0002359	HP:0002359	Frequent falls	0	VPS13D CL E G H	55187	607317	Spinocerebellar ataxia autosomal recessive 4	607317	C1846492	OMIM	1	1034	23595	608877
HP:0002359	HP:0002359	Frequent falls	0	VPS35 CL E G H	55737	411602				ORPHA	1	228	13487	601501
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002359	HP:0002359	Frequent falls	0	ADAR CL E G H	103	225154				ORPHA	0	1122	225	146920
HP:0002359	HP:0002359	Frequent falls	0	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0002359	HP:0002359	Frequent falls	0	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0002359	HP:0002359	Frequent falls	0	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0002359	HP:0002359	Frequent falls	0	COLQ CL E G H	8292	98915				ORPHA	0	542	2226	603033
HP:0002359	HP:0002359	Frequent falls	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0002359	HP:0002359	Frequent falls	0	FKRP CL E G H	79147	34515				ORPHA	0	950	17997	606596
HP:0002359	HP:0002359	Frequent falls	0	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0002359	HP:0002359	Frequent falls	0	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0002359	HP:0002359	Frequent falls	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	0	792	4801	600890
HP:0002359	HP:0002359	Frequent falls	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	0	367	4803	143450
HP:0002359	HP:0002359	Frequent falls	0	LAMB2 CL E G H	3913	98915				ORPHA	0	915	6487	150325
HP:0002359	HP:0002359	Frequent falls	0	MRE11 CL E G H	4361	251347				ORPHA	0	1911	7230	600814
HP:0002359	HP:0002359	Frequent falls	0	MT-ATP6 CL E G H	4508	225154				ORPHA	0		7414	516060
HP:0002359	HP:0002359	Frequent falls	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0002359	HP:0002359	Frequent falls	0	MYPN CL E G H	84665	171881				ORPHA	0	1485	23246	608517
HP:0002359	HP:0002359	Frequent falls	0	NUP62 CL E G H	23636	225154				ORPHA	0	161	8066	605815
HP:0002359	HP:0002359	Frequent falls	0	PANK2 CL E G H	80025	216873				ORPHA	0	499	15894	606157
HP:0002359	HP:0002359	Frequent falls	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0002359	HP:0002359	Frequent falls	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0002359	HP:0002359	Frequent falls	0	PRNP CL E G H	5621	157941				ORPHA	0	191	9449	176640
HP:0002359	HP:0002359	Frequent falls	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0002359	HP:0002359	Frequent falls	0	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0002359	HP:0002359	Frequent falls	0	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0002359	HP:0002359	Frequent falls	0	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0002359	HP:0002359	Frequent falls	0	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0002359	HP:0002359	Frequent falls	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0002359	HP:0002359	Frequent falls	0	TAF1 CL E G H	6872	53351				ORPHA	0	534	11535	313650
HP:0002359	HP:0002359	Frequent falls	0	TPM2 CL E G H	7169	171881				ORPHA	0	341	12011	190990
HP:0002359	HP:0002359	Frequent falls	0	TPM3 CL E G H	7170	171881				ORPHA	0	343	12012	191030
HP:0002359	HP:0002359	Frequent falls	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075

Genes (87) :ACTA1 ADAR ALG14 ALG2 ARHGEF2 ARSA ASAH1 ATL1 ATP2B3 ATP6 B4GALNT1 C19ORF12 C19orf12 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 CRPPA CWF19L1 DAB1 DNAJC13 DPAGT1 DYNC1H1 EIF4G1 FA2H FHL1 FIG4 FKRP FKTN GBA GFPT1 GIGYF2 GJB1 GLRA1 GMPPB GPHN GRM1 HADHA HADHB HINT1 ISPD KIF1C LAMB2 LRRK2 MFN2 MRE11 MTPAP MYPN NEB NEFH NOL3 NUP62 PANK2 PDE10A PIK3R5 PLEC PMP2 POLG POLG2 POMT1 PRNP PSAP PYROXD1 RNU12 RRM2B SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SGCA SGCG SLC25A1 SLC25A4 SNCA STIM1 TAF1 TPM2 TPM3 TRNE TWNK VCP VPS13D VPS35

Diseases (66) :161800 225154 353327 616227 617523 309271 309263 309256 159950 100984 314978 609195 289560 75840 98915 227510 98933 370980 453521 615945 411602 614228 171629 300718 611228 34515 606612 607155 1175 149400 617691 746 324442 397946 611302 99947 251347 604391 254343 171881 256030 616924 614937 216873 216866 494526 616921 615217 254361 618279 254892 157941 617258 512260 521411 466794 616719 3208 62 353 618197 160565 53351 2596 329478 607317

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

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