Human Phenotype Ontology 
Grandparent Node:
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Abnormality of joint mobility (HP:0011729)help
Parent Node:
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Joint hypermobility (HP:0001382)help
..Starting node
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Hyperextensibility at elbow (HP:0010485)help
Term ID: 10485
Name: Hyperextensibility at elbow
Synonym:
Definition: The ability of the elbow joint to move beyond its normal range of motion.
Comments:
Reference: HP:0010485
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFinger joint hypermobility (HP:0006094) help
..expandGeneralized joint laxity (HP:0002761) help
..expandHip joint hypermobility (HP:0045087) help
..expandHyperextensibility at wrists (HP:0005072) help
..expandHyperextensible hand joints (HP:0005639) help
..expandHypermobility of interphalangeal joints (HP:0005620) help
..expandJoint hyperflexibility (HP:0005692) help
..expandKnee joint hypermobility (HP:0045086) 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:0010485HP:0010485Hyperextensibility at elbow0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0010485HP:0010485Hyperextensibility at elbow0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0010485HP:0010485Hyperextensibility at elbow0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0010485HP:0010485Hyperextensibility at elbow0IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0010485HP:0010485Hyperextensibility at elbow0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0010485HP:0010485Hyperextensibility at elbow0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12


Genes (6) :CAMTA1 COL5A1 HYAL1 IFITM5 KMT2A SON

Diseases (6) :OMIM:614756 OMIM:130000 OMIM:601492 OMIM:610967 ORPHA:319182 ORPHA:500150
 

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