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:
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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0003551	HP:0003551	Difficulty climbing stairs	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0003551	HP:0003551	Difficulty climbing stairs	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	99
HP:0003551	HP:0003551	Difficulty climbing stairs	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040283 - Occasional	323
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040282 - Frequent	108
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040282 - Frequent	103
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.	600
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0003551	HP:0003551	Difficulty climbing stairs	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0003551	HP:0003551	Difficulty climbing stairs	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional	157
HP:0003551	HP:0003551	Difficulty climbing stairs	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0003551	HP:0003551	Difficulty climbing stairs	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0003551	HP:0003551	Difficulty climbing stairs	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0003551	HP:0003551	Difficulty climbing stairs	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0003551	HP:0003551	Difficulty climbing stairs	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0003551	HP:0003551	Difficulty climbing stairs	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0003551	HP:0003551	Difficulty climbing stairs	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040282 - Frequent	34
HP:0003551	HP:0003551	Difficulty climbing stairs	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0003551	HP:0003551	Difficulty climbing stairs	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0003551	HP:0003551	Difficulty climbing stairs	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.	80
HP:0003551	HP:0003551	Difficulty climbing stairs	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003551	HP:0003551	Difficulty climbing stairs	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0003551	HP:0003551	Difficulty climbing stairs	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0003551	HP:0003551	Difficulty climbing stairs	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040281 - Very frequent	213
HP:0003551	HP:0003551	Difficulty climbing stairs	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent	221
HP:0003551	HP:0003551	Difficulty climbing stairs	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	3
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent	125
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0003551	HP:0003551	Difficulty climbing stairs	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0003551	HP:0003551	Difficulty climbing stairs	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	20
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040280 - Obligate	18
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent	7128
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0003551	HP:0003551	Difficulty climbing stairs	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003551	HP:0003551	Difficulty climbing stairs	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0003551	HP:0003551	Difficulty climbing stairs	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0003551	HP:0003551	Difficulty climbing stairs	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0003551	HP:0003551	Difficulty climbing stairs	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224

Genes (56) :ACTA1 ADSS1 ALG14 ALG2 ANO5 BIN1 CAPN3 DAG1 DMD DNAJB6 DPAGT1 DYSF FKRP FLNC GAA GFPT1 GMPPB HADHA HADHB KBTBD13 LAMA2 LIPE LRIF1 MFN2 MIEF2 MYH7 MYOT MYPN PLEC PLEKHG5 POLG POLG2 POMGNT1 POMK POMT1 POMT2 PYROXD1 RNASEH1 RRM2B RYR1 SGCA SGCD SGCG SLC25A4 SPEG TCAP TFG TOR1AIP1 TPM2 TPM3 TRNE TTN TWNK VCP VMA21 WDR62

Diseases (57) :ORPHA:97240 ORPHA:482601 ORPHA:353327 OMIM:613319 ORPHA:169186 ORPHA:267 ORPHA:280333 OMIM:613818 ORPHA:98895 OMIM:310200 ORPHA:34516 OMIM:603511 ORPHA:268 OMIM:254130 ORPHA:45448 OMIM:253601 ORPHA:34515 OMIM:606612 OMIM:607155 OMIM:609524 OMIM:232300 ORPHA:363623 ORPHA:746 OMIM:609273 OMIM:618138 OMIM:615980 OMIM:619477 ORPHA:99947 OMIM:619024 OMIM:608358 ORPHA:266 ORPHA:171881 OMIM:613723 ORPHA:254361 OMIM:611067 ORPHA:254892 OMIM:258450 OMIM:607459 OMIM:613157 OMIM:616094 OMIM:609308 ORPHA:86812 ORPHA:206559 OMIM:617258 ORPHA:329336 ORPHA:62 OMIM:601287 ORPHA:353 OMIM:601954 ORPHA:431329 OMIM:617072 ORPHA:2596 OMIM:608807 ORPHA:435387 OMIM:167320 OMIM:310440 OMIM:604317

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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