Human Phenotype Ontology 
Grandparent Node:
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Abnormal foot morphology (HP:0001760)help
Grandparent Node:
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Contractures of the joints of the lower limbs (HP:0005750)help
Parent Node:
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Abnormality of the Achilles tendon (HP:0005109)help
Parent Node:
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Contractures involving the joints of the feet (HP:0008366)help
..Starting node
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Achilles tendon contracture (HP:0001771)help
Term ID: 1771
Name: Achilles tendon contracture
Synonym: Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon
Definition: A contracture of the Achilles tendon.
Comments:
Reference: HP:0001771
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFlexion contracture of toe (HP:0005830) help
..expandPlantar flexion contractures (HP:0008112) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001771HP:0001771Achilles tendon contracture0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001771HP:0001771Achilles tendon contracture0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001771HP:0001771Achilles tendon contracture0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1754443606352
HP:0001771HP:0001771Achilles tendon contracture0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001771HP:0001771Achilles tendon contracture0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0001771HP:0001771Achilles tendon contracture0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM16183331300384
HP:0001771HP:0001771Achilles tendon contracture0FKRP CL E G H79147370980ORPHA178717997606596
HP:0001771HP:0001771Achilles tendon contracture0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0001771HP:0001771Achilles tendon contracture0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0001771HP:0001771Achilles tendon contracture0FKTN CL E G H2218370980ORPHA17833622607440
HP:0001771HP:0001771Achilles tendon contracture0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0001771HP:0001771Achilles tendon contracture0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM15475173190020
HP:0001771HP:0001771Achilles tendon contracture0ISPD CL E G H729920370980ORPHA164737276614631
HP:0001771HP:0001771Achilles tendon contracture0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0001771HP:0001771Achilles tendon contracture0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0001771HP:0001771Achilles tendon contracture0LMNA CL E G H400098853ORPHA116226636150330
HP:0001771HP:0001771Achilles tendon contracture0LMNA CL E G H400098855ORPHA116226636150330
HP:0001771HP:0001771Achilles tendon contracture0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM116226636150330
HP:0001771HP:0001771Achilles tendon contracture0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0001771HP:0001771Achilles tendon contracture0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM18858140605290
HP:0001771HP:0001771Achilles tendon contracture0POMT1 CL E G H10585370980ORPHA17379202607423
HP:0001771HP:0001771Achilles tendon contracture0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA153710805600119
HP:0001771HP:0001771Achilles tendon contracture0SYNE1 CL E G H2334598853ORPHA1459817089608441
HP:0001771HP:0001771Achilles tendon contracture0SYNE2 CL E G H2322498853ORPHA1249717084608442
HP:0001771HP:0001771Achilles tendon contracture0TMEM43 CL E G H7918898853ORPHA174028472612048
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001771HP:0001771Achilles tendon contracture0EMD CL E G H201098863ORPHA06183331300384
HP:0001771HP:0001771Achilles tendon contracture0FHL1 CL E G H227398863ORPHA05173702300163
HP:0001771HP:0001771Achilles tendon contracture0HINT1 CL E G H3094324442ORPHA01304912601314
HP:0001771HP:0001771Achilles tendon contracture0LMNA CL E G H4000264ORPHA016226636150330
HP:0001771HP:0001771Achilles tendon contracture0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0001771HP:0001771Achilles tendon contracture0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM044325994610916
HP:0001771HP:0001771Achilles tendon contracture0PLEC CL E G H5339254361ORPHA041529069601282
HP:0001771HP:0001771Achilles tendon contracture0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA048410809608896


Genes (28) :ABHD12 ACTA1 ALS2 BICD2 COL6A2 CRPPA EMD FHL1 FKRP FKTN GJB1 HINT1 HRAS ISPD KY LARGE1 LMNA MYOT NSUN2 OPA1 PLEC POMT1 SGCA SGCG SYNE1 SYNE2 TMEM43 TRNE

Diseases (26) :612674 616852 607225 615290 255600 370980 98863 310300 606612 607155 302800 324442 218040 617114 608840 264 98855 98853 181350 609200 611091 210000 254361 62 353 2596
 

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