Human Phenotype Ontology 
Grandparent Node:
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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 running (HP:0009046)help
Term ID: 9046
Name: Difficulty running
Synonym: Difficulty running
Definition: Reduced ability to run.
Comments:
Reference: HP:0009046
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDifficulty climbing stairs (HP:0003551) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009046HP:0009046Difficulty running0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0009046HP:0009046Difficulty running0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0009046HP:0009046Difficulty running0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0009046HP:0009046Difficulty running0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0009046HP:0009046Difficulty running0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040282 - Frequent304
HP:0009046HP:0009046Difficulty running0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0009046HP:0009046Difficulty running0ATP2A1 CL E G H487811OMIM:601003BRODY MYOPATHY80
HP:0009046HP:0009046Difficulty running0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0009046HP:0009046Difficulty running0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0009046HP:0009046Difficulty running0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 2.65
HP:0009046HP:0009046Difficulty running0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0009046HP:0009046Difficulty running0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0009046HP:0009046Difficulty running0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0009046HP:0009046Difficulty running0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0009046HP:0009046Difficulty running0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0009046HP:0009046Difficulty running0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0009046HP:0009046Difficulty running0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0009046HP:0009046Difficulty running0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0009046HP:0009046Difficulty running0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040283 - Occasional157
HP:0009046HP:0009046Difficulty running0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0009046HP:0009046Difficulty running0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0009046HP:0009046Difficulty running0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0009046HP:0009046Difficulty running0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 6.80
HP:0009046HP:0009046Difficulty running0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0009046HP:0009046Difficulty running0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0009046HP:0009046Difficulty running0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0009046HP:0009046Difficulty running0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0009046HP:0009046Difficulty running0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0009046HP:0009046Difficulty running0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs.14
HP:0009046HP:0009046Difficulty running0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0009046HP:0009046Difficulty running0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0009046HP:0009046Difficulty running0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0009046HP:0009046Difficulty running0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0009046HP:0009046Difficulty running0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0009046HP:0009046Difficulty running0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0009046HP:0009046Difficulty running0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0009046HP:0009046Difficulty running0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0009046HP:0009046Difficulty running0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0009046HP:0009046Difficulty running0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0009046HP:0009046Difficulty running0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0009046HP:0009046Difficulty running0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0009046HP:0009046Difficulty running0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0009046HP:0009046Difficulty running0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0009046HP:0009046Difficulty running0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0009046HP:0009046Difficulty running0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0009046HP:0009046Difficulty running0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0009046HP:0009046Difficulty running0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0009046HP:0009046Difficulty running0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0009046HP:0009046Difficulty running0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0009046HP:0009046Difficulty running0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0009046HP:0009046Difficulty running0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0009046HP:0009046Difficulty running0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0009046HP:0009046Difficulty running0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0009046HP:0009046Difficulty running0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0009046HP:0009046Difficulty running0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0009046HP:0009046Difficulty running0VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0009046HP:0009046Difficulty running0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C


Genes (49) :ADSS1 AGRN ALG14 ALG2 ANO5 ATP2A1 BICD2 BIN1 COL12A1 DNAJB6 DPAGT1 DYNC1H1 DYSF FBXO38 FHL1 FKRP FLNC GFPT1 GMPPB KBTBD13 KCNC3 KY LAMA2 MEGF10 MFN2 MICU1 MORC2 MYH7 MYPN NEFL PEX2 PNPLA2 POPDC3 PYROXD1 RAPSN REEP1 RYR1 SGCG SPEG STIM1 TCAP TNPO3 TPM2 TPM3 TRNE TTN VCP VMA21 YARS1

Diseases (48) :ORPHA:482601 OMIM:615120 ORPHA:353327 ORPHA:399096 OMIM:613319 OMIM:601003 OMIM:615290 ORPHA:169186 OMIM:616471 OMIM:603511 OMIM:614228 OMIM:158600 ORPHA:268 OMIM:253601 OMIM:615575 OMIM:300718 ORPHA:34515 ORPHA:63273 OMIM:609273 ORPHA:98768 ORPHA:496689 OMIM:618138 OMIM:614399 ORPHA:99947 OMIM:615673 ORPHA:401768 ORPHA:466768 OMIM:608358 ORPHA:171881 ORPHA:99939 OMIM:614867 OMIM:610717 ORPHA:98908 OMIM:618848 OMIM:617258 OMIM:616326 ORPHA:101011 ORPHA:98905 OMIM:255320 ORPHA:178145 ORPHA:353 OMIM:160565 OMIM:601954 OMIM:608423 ORPHA:2596 ORPHA:435387 OMIM:310440 OMIM:608323
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.