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:
Functional motor deficit (HP:0004302)

..Starting node
..Difficulty climbing stairs (HP:0003551)

Term ID:

3551

Name:

Difficulty climbing stairs

Synonym:

Difficulty walking up stairs

Definition:

Reduced ability to climb stairs.

Comments:

Reference:

HP:0003551

Genes and Diseases:

Child Nodes:

Sister Nodes:

Difficulty running (HP:0009046)

Difficulty standing (HP:0003698)

Difficulty walking (HP:0002355)

Easy fatigability (HP:0003388)

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:0003551	HP:0003551	Difficulty climbing stairs	0	ACTA1 CL E G H	58	97240				ORPHA	1	506	129	102610
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	1162	27337	608662
HP:0003551	HP:0003551	Difficulty climbing stairs	0	BIN1 CL E G H	274	169186				ORPHA	1	656	1052	601248
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DMD CL E G H	1756	98895				ORPHA	1	8184	2928	300377
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DNAJB6 CL E G H	10049	34516				ORPHA	1	487	14888	611332
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	487	14888	611332
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	3355	3097	603009
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	3355	3097	603009
HP:0003551	HP:0003551	Difficulty climbing stairs	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:0003551	HP:0003551	Difficulty climbing stairs	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	950	17997	606596
HP:0003551	HP:0003551	Difficulty climbing stairs	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	4208	3756	102565
HP:0003551	HP:0003551	Difficulty climbing stairs	0	GMPPB CL E G H	29925	363623				ORPHA	1	364	22932	615320
HP:0003551	HP:0003551	Difficulty climbing stairs	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	1	792	4801	600890
HP:0003551	HP:0003551	Difficulty climbing stairs	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	1	367	4803	143450
HP:0003551	HP:0003551	Difficulty climbing stairs	0	KBTBD13 CL E G H	390594	609273	Nemaline myopathy 6	609273	C1836472	OMIM	1	530	37227	613727
HP:0003551	HP:0003551	Difficulty climbing stairs	0	LAMA2 CL E G H	3908	618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23	618138		OMIM	1	4179	6482	156225
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MFN2 CL E G H	9927	99947				ORPHA	1	1222	16877	608507
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	1		7479	590025
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MYOT CL E G H	9499	266				ORPHA	1	372	12399	604103
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PLEC CL E G H	5339	254361				ORPHA	1	5068	9069	601282
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	5068	9069	601282
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PLEKHG5 CL E G H	57449	611067	Distal spinal muscular atrophy, autosomal recessive 4	611067	C1970211	OMIM	1	1080	29105	611101
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	1174	19139	606822
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMT1 CL E G H	10585	86812				ORPHA	1	906	9202	607423
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	906	9202	607423
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	582	26162	617220
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RNASEH1 CL E G H	246243	329336				ORPHA	1	189	18466	604123
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RRM2B CL E G H	50484	329336				ORPHA	1	354	17296	604712
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RYR1 CL E G H	6261	169186				ORPHA	1	6164	10483	180901
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	628	10805	600119
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	549	10809	608896
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SPEG CL E G H	10290	169186				ORPHA	1	1482	16901	615950
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	298	11610	604488
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TFG CL E G H	10342	431329				ORPHA	1	373	11758	602498
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TTN CL E G H	7273	169186				ORPHA	1	27503	12403	188840
HP:0003551	HP:0003551	Difficulty climbing stairs	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	607	12666	601023
HP:0003551	HP:0003551	Difficulty climbing stairs	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	254	22082	300913
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0003551	HP:0003551	Difficulty climbing stairs	0	CAPN3 CL E G H	825	267				ORPHA	0	1521	1480	114240
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0003551	HP:0003551	Difficulty climbing stairs	0	FKRP CL E G H	79147	34515				ORPHA	0	950	17997	606596
HP:0003551	HP:0003551	Difficulty climbing stairs	0	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0003551	HP:0003551	Difficulty climbing stairs	0	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MYPN CL E G H	84665	171881				ORPHA	0	1485	23246	608517
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TPM2 CL E G H	7169	171881				ORPHA	0	341	12011	190990
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TPM3 CL E G H	7170	171881				ORPHA	0	343	12012	191030
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075

Genes (46) :ACTA1 ALG14 ALG2 ANO5 BIN1 CAPN3 DMD DNAJB6 DPAGT1 DYSF FKRP FLNC GFPT1 GMPPB HADHA HADHB KBTBD13 LAMA2 MFN2 MT-TE MYOT MYPN PLEC PLEKHG5 POLG POLG2 POMGNT1 POMK POMT1 PYROXD1 RNASEH1 RRM2B RYR1 SGCA SGCG SLC25A4 SPEG TCAP TFG TPM2 TPM3 TRNE TTN TWNK VCP VMA21

Diseases (38) :97240 353327 613319 169186 267 98895 34516 603511 253601 254130 34515 606612 607155 609524 363623 746 609273 618138 99947 266 171881 254361 613723 611067 254892 613157 616094 86812 609308 617258 329336 62 353 601954 431329 2596 167320 310440

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

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