Human Phenotype Ontology 
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Functional motor deficit (HP:0004302)help
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Difficulty climbing stairs (HP:0003551)help
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: 
..expandDifficulty running (HP:0009046) help
..expandDifficulty standing (HP:0003698) help
..expandDifficulty walking (HP:0002355) help
..expandEasy fatigability (HP:0003388) help
..expandExercise intolerance (HP:0003546) help
..expandFrequent falls (HP:0002359) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003551HP:0003551Difficulty climbing stairs0ACTA1 CL E G H5897240ORPHA1362129102610
HP:0003551HP:0003551Difficulty climbing stairs0ACTA1 CL E G H5897240ORPHA1325129102610
HP:0003551HP:0003551Difficulty climbing stairs0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003551HP:0003551Difficulty climbing stairs0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003551HP:0003551Difficulty climbing stairs0BIN1 CL E G H274169186ORPHA14311052601248
HP:0003551HP:0003551Difficulty climbing stairs0BIN1 CL E G H274169186ORPHA14871052601248
HP:0003551HP:0003551Difficulty climbing stairs0DMD CL E G H175698895ORPHA156012928300377
HP:0003551HP:0003551Difficulty climbing stairs0DMD CL E G H175698895ORPHA163952928300377
HP:0003551HP:0003551Difficulty climbing stairs0DNAJB6 CL E G H1004934516ORPHA138314888611332
HP:0003551HP:0003551Difficulty climbing stairs0DNAJB6 CL E G H1004934516ORPHA134614888611332
HP:0003551HP:0003551Difficulty climbing stairs0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003551HP:0003551Difficulty climbing stairs0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003551HP:0003551Difficulty climbing stairs0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003551HP:0003551Difficulty climbing stairs0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003551HP:0003551Difficulty climbing stairs0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0003551HP:0003551Difficulty climbing stairs0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0003551HP:0003551Difficulty climbing stairs0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003551HP:0003551Difficulty climbing stairs0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003551HP:0003551Difficulty climbing stairs0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003551HP:0003551Difficulty climbing stairs0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003551HP:0003551Difficulty climbing stairs0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003551HP:0003551Difficulty climbing stairs0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003551HP:0003551Difficulty climbing stairs0GMPPB CL E G H29925363623ORPHA120322932615320
HP:0003551HP:0003551Difficulty climbing stairs0GMPPB CL E G H29925363623ORPHA123422932615320
HP:0003551HP:0003551Difficulty climbing stairs0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA15274801600890
HP:0003551HP:0003551Difficulty climbing stairs0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA14774801600890
HP:0003551HP:0003551Difficulty climbing stairs0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12424803143450
HP:0003551HP:0003551Difficulty climbing stairs0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12134803143450
HP:0003551HP:0003551Difficulty climbing stairs0KBTBD13 CL E G H390594609273Nemaline myopathy 6609273C1836472OMIM138837227613727
HP:0003551HP:0003551Difficulty climbing stairs0KBTBD13 CL E G H390594609273Nemaline myopathy 6609273C1836472OMIM131637227613727
HP:0003551HP:0003551Difficulty climbing stairs0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM127396482156225
HP:0003551HP:0003551Difficulty climbing stairs0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM123276482156225
HP:0003551HP:0003551Difficulty climbing stairs0MFN2 CL E G H992799947ORPHA194416877608507
HP:0003551HP:0003551Difficulty climbing stairs0MFN2 CL E G H992799947ORPHA182416877608507
HP:0003551HP:0003551Difficulty climbing stairs0MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0003551HP:0003551Difficulty climbing stairs0MYOT CL E G H9499266ORPHA126712399604103
HP:0003551HP:0003551Difficulty climbing stairs0MYOT CL E G H9499266ORPHA124612399604103
HP:0003551HP:0003551Difficulty climbing stairs0PLEC CL E G H5339254361ORPHA138429069601282
HP:0003551HP:0003551Difficulty climbing stairs0PLEC CL E G H5339254361ORPHA133559069601282
HP:0003551HP:0003551Difficulty climbing stairs0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM138429069601282
HP:0003551HP:0003551Difficulty climbing stairs0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM133559069601282
HP:0003551HP:0003551Difficulty climbing stairs0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM183229105611101
HP:0003551HP:0003551Difficulty climbing stairs0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM174129105611101
HP:0003551HP:0003551Difficulty climbing stairs0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003551HP:0003551Difficulty climbing stairs0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003551HP:0003551Difficulty climbing stairs0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM122426267615247
HP:0003551HP:0003551Difficulty climbing stairs0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM119226267615247
HP:0003551HP:0003551Difficulty climbing stairs0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0003551HP:0003551Difficulty climbing stairs0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0003551HP:0003551Difficulty climbing stairs0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0003551HP:0003551Difficulty climbing stairs0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0003551HP:0003551Difficulty climbing stairs0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM131826162617220
HP:0003551HP:0003551Difficulty climbing stairs0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM122926162617220
HP:0003551HP:0003551Difficulty climbing stairs0RNASEH1 CL E G H246243329336ORPHA19518466604123
HP:0003551HP:0003551Difficulty climbing stairs0RNASEH1 CL E G H246243329336ORPHA18618466604123
HP:0003551HP:0003551Difficulty climbing stairs0RRM2B CL E G H50484329336ORPHA126117296604712
HP:0003551HP:0003551Difficulty climbing stairs0RRM2B CL E G H50484329336ORPHA127217296604712
HP:0003551HP:0003551Difficulty climbing stairs0RYR1 CL E G H6261169186ORPHA1460410483180901
HP:0003551HP:0003551Difficulty climbing stairs0RYR1 CL E G H6261169186ORPHA1410110483180901
HP:0003551HP:0003551Difficulty climbing stairs0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0003551HP:0003551Difficulty climbing stairs0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0003551HP:0003551Difficulty climbing stairs0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA145210809608896
HP:0003551HP:0003551Difficulty climbing stairs0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA140910809608896
HP:0003551HP:0003551Difficulty climbing stairs0SPEG CL E G H10290169186ORPHA126516901615950
HP:0003551HP:0003551Difficulty climbing stairs0SPEG CL E G H10290169186ORPHA163716901615950
HP:0003551HP:0003551Difficulty climbing stairs0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM122611610604488
HP:0003551HP:0003551Difficulty climbing stairs0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM120011610604488
HP:0003551HP:0003551Difficulty climbing stairs0TFG CL E G H10342431329ORPHA126311758602498
HP:0003551HP:0003551Difficulty climbing stairs0TFG CL E G H10342431329ORPHA123711758602498
HP:0003551HP:0003551Difficulty climbing stairs0TTN CL E G H7273169186ORPHA11902812403188840
HP:0003551HP:0003551Difficulty climbing stairs0TTN CL E G H7273169186ORPHA11798412403188840
HP:0003551HP:0003551Difficulty climbing stairs0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003551HP:0003551Difficulty climbing stairs0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003551HP:0003551Difficulty climbing stairs0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0003551HP:0003551Difficulty climbing stairs0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003551HP:0003551Difficulty climbing stairs0ALG14 CL E G H199857353327ORPHA09728287612866
HP:0003551HP:0003551Difficulty climbing stairs0ALG14 CL E G H199857353327ORPHA07628287612866
HP:0003551HP:0003551Difficulty climbing stairs0ALG2 CL E G H85365353327ORPHA019323159607905
HP:0003551HP:0003551Difficulty climbing stairs0ALG2 CL E G H85365353327ORPHA024123159607905
HP:0003551HP:0003551Difficulty climbing stairs0CAPN3 CL E G H825267ORPHA011421480114240
HP:0003551HP:0003551Difficulty climbing stairs0CAPN3 CL E G H825267ORPHA010471480114240
HP:0003551HP:0003551Difficulty climbing stairs0DPAGT1 CL E G H1798353327ORPHA02332995191350
HP:0003551HP:0003551Difficulty climbing stairs0DPAGT1 CL E G H1798353327ORPHA01992995191350
HP:0003551HP:0003551Difficulty climbing stairs0FKRP CL E G H7914734515ORPHA057217997606596
HP:0003551HP:0003551Difficulty climbing stairs0FKRP CL E G H7914734515ORPHA067117997606596
HP:0003551HP:0003551Difficulty climbing stairs0GFPT1 CL E G H2673353327ORPHA03744241138292
HP:0003551HP:0003551Difficulty climbing stairs0GFPT1 CL E G H2673353327ORPHA04064241138292
HP:0003551HP:0003551Difficulty climbing stairs0GMPPB CL E G H29925353327ORPHA023422932615320
HP:0003551HP:0003551Difficulty climbing stairs0GMPPB CL E G H29925353327ORPHA020322932615320
HP:0003551HP:0003551Difficulty climbing stairs0MYPN CL E G H84665171881ORPHA088723246608517
HP:0003551HP:0003551Difficulty climbing stairs0MYPN CL E G H84665171881ORPHA0103323246608517
HP:0003551HP:0003551Difficulty climbing stairs0POLG CL E G H5428254892ORPHA014709179174763
HP:0003551HP:0003551Difficulty climbing stairs0POLG CL E G H5428254892ORPHA017129179174763
HP:0003551HP:0003551Difficulty climbing stairs0POLG2 CL E G H11232254892ORPHA02049180604983
HP:0003551HP:0003551Difficulty climbing stairs0POLG2 CL E G H11232254892ORPHA01339180604983
HP:0003551HP:0003551Difficulty climbing stairs0RRM2B CL E G H50484254892ORPHA026117296604712
HP:0003551HP:0003551Difficulty climbing stairs0RRM2B CL E G H50484254892ORPHA027217296604712
HP:0003551HP:0003551Difficulty climbing stairs0SLC25A4 CL E G H291254892ORPHA026110990103220
HP:0003551HP:0003551Difficulty climbing stairs0SLC25A4 CL E G H291254892ORPHA025410990103220
HP:0003551HP:0003551Difficulty climbing stairs0TPM2 CL E G H7169171881ORPHA024212011190990
HP:0003551HP:0003551Difficulty climbing stairs0TPM2 CL E G H7169171881ORPHA023412011190990
HP:0003551HP:0003551Difficulty climbing stairs0TPM3 CL E G H7170171881ORPHA026112012191030
HP:0003551HP:0003551Difficulty climbing stairs0TPM3 CL E G H7170171881ORPHA028312012191030
HP:0003551HP:0003551Difficulty climbing stairs0TWNK CL E G H56652254892ORPHA02341160606075
HP:0003551HP:0003551Difficulty climbing stairs0TWNK CL E G H56652254892ORPHA02701160606075


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.