Human Phenotype Ontology 
Grandparent Node:
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Abnormality of joint mobility (HP:0011729)help
Parent Node:
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Abnormality of finger (HP:0001167)help
Parent Node:
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Abnormality of hand joint mobility (HP:0006256)help
Parent Node:
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Joint hypermobility (HP:0001382)help
..Starting node
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Finger joint hypermobility (HP:0006094)help
Term ID: 6094
Name: Finger joint hypermobility
Synonym: Increased mobility in finger joint
Definition:
Comments:
Reference: HP:0006094
Genes and Diseases:
 
       Child Nodes:
........expandHyperextensibility of the finger joints (HP:0001187) help
................... HP:0005190 Proximal finger joint hyperextensibility
........expandIncreased laxity of fingers (HP:0006149) help

 Sister Nodes: 
..expandGeneralized joint laxity (HP:0002761) help
..expandHip joint hypermobility (HP:0045087) help
..expandHyperextensibility at elbow (HP:0010485) 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:0006094HP:0006094Finger joint hypermobility0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0006094HP:0006094Finger joint hypermobility0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0006094HP:0006094Finger joint hypermobility0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0006094HP:0006094Finger joint hypermobility0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0006094HP:0006094Finger joint hypermobility0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0006094HP:0006094Finger joint hypermobility0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0006094HP:0006094Finger joint hypermobility0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0006094HP:0006094Finger joint hypermobility0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0006094HP:0006094Finger joint hypermobility0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0006094HP:0006094Finger joint hypermobility0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0006094HP:0006094Finger joint hypermobility0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0006094HP:0006094Finger joint hypermobility0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0006094HP:0006094Finger joint hypermobility0COMP CL E G H13112227ORPHA:93308Multiple epiphyseal dysplasia type 1HP:0040283 - Occasional89
HP:0006094HP:0006094Finger joint hypermobility0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0006094HP:0006094Finger joint hypermobility0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0006094HP:0006094Finger joint hypermobility0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0006094HP:0006094Finger joint hypermobility0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0006094HP:0006094Finger joint hypermobility0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006094HP:0006094Finger joint hypermobility0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum52
HP:0006094HP:0006094Finger joint hypermobility0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0006094HP:0006094Finger joint hypermobility0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0006094HP:0006094Finger joint hypermobility0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0006094HP:0006094Finger joint hypermobility0IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0006094HP:0006094Finger joint hypermobility0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0006094HP:0006094Finger joint hypermobility0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0006094HP:0006094Finger joint hypermobility0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0006094HP:0006094Finger joint hypermobility0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0006094HP:0006094Finger joint hypermobility0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healingHP:0040283 - Occasional37
HP:0006094HP:0006094Finger joint hypermobility0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0006094HP:0006094Finger joint hypermobility0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0006094HP:0006094Finger joint hypermobility0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome7
HP:0006094HP:0006094Finger joint hypermobility0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006094HP:0006094Finger joint hypermobility0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0006094HP:0006094Finger joint hypermobility0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia34
HP:0006094HP:0006094Finger joint hypermobility0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0006094HP:0006094Finger joint hypermobility0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism6
HP:0006094HP:0006094Finger joint hypermobility0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0006094HP:0006094Finger joint hypermobility0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0006094HP:0006094Finger joint hypermobility0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome65
HP:0006094HP:0006094Finger joint hypermobility0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0006094HP:0006094Finger joint hypermobility0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII34
HP:0006094HP:0006094Finger joint hypermobility0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0006094HP:0006094Finger joint hypermobility0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0006094HP:0006094Finger joint hypermobility0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0006094HP:0001187Hyperextensibility of the finger joints1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0006094HP:0001187Hyperextensibility of the finger joints1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0006094HP:0006149Increased laxity of fingers1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent65
HP:0006094HP:0001187Hyperextensibility of the finger joints1COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0006094HP:0001187Hyperextensibility of the finger joints1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0006094HP:0006149Increased laxity of fingers1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent442
HP:0006094HP:0006149Increased laxity of fingers1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0006094HP:0006149Increased laxity of fingers1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent478
HP:0006094HP:0006149Increased laxity of fingers1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0006094HP:0006149Increased laxity of fingers1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent702
HP:0006094HP:0006149Increased laxity of fingers1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0006094HP:0006149Increased laxity of fingers1COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040282 - Frequent89
HP:0006094HP:0001187Hyperextensibility of the finger joints1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0006094HP:0001187Hyperextensibility of the finger joints1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0006094HP:0001187Hyperextensibility of the finger joints1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0006094HP:0001187Hyperextensibility of the finger joints1GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0006094HP:0001187Hyperextensibility of the finger joints1HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0006094HP:0001187Hyperextensibility of the finger joints1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0006094HP:0001187Hyperextensibility of the finger joints1IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0006094HP:0001187Hyperextensibility of the finger joints1KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0006094HP:0001187Hyperextensibility of the finger joints1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0006094HP:0001187Hyperextensibility of the finger joints1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0006094HP:0001187Hyperextensibility of the finger joints1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0006094HP:0001187Hyperextensibility of the finger joints1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0006094HP:0001187Hyperextensibility of the finger joints1PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0006094HP:0001187Hyperextensibility of the finger joints1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0006094HP:0001187Hyperextensibility of the finger joints1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0006094HP:0001187Hyperextensibility of the finger joints1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0006094HP:0001187Hyperextensibility of the finger joints1PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0006094HP:0001187Hyperextensibility of the finger joints1RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0006094HP:0001187Hyperextensibility of the finger joints1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0006094HP:0001187Hyperextensibility of the finger joints1SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII34
HP:0006094HP:0001187Hyperextensibility of the finger joints1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0006094HP:0005190Proximal finger joint hyperextensibility2LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165


Genes (39) :ASAH1 BRAF COL12A1 COL1A2 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COMP CSGALNACT1 FBN1 FGD1 GNB2 GORAB HDAC4 HRAS HYAL1 IFITM5 KCNH1 LMX1B MED12 NFASC NLRP1 OTUD6B P4HTM PIGG PKDCC PLAA PROKR2 PRR12 PTDSS1 RAB3GAP2 RNF13 RPS6KA3 SMS SP7 TMCO1 YY1

Diseases (39) :OMIM:228000 OMIM:115150 ORPHA:75840 OMIM:617821 OMIM:130050 OMIM:130000 OMIM:254090 ORPHA:93308 ORPHA:750 OMIM:618870 OMIM:616914 OMIM:305400 OMIM:619503 OMIM:231070 OMIM:619797 OMIM:218040 OMIM:601492 OMIM:610967 OMIM:135500 ORPHA:2614 OMIM:309520 OMIM:618356 OMIM:615225 ORPHA:505237 OMIM:618493 ORPHA:488635 OMIM:618821 ORPHA:521426 OMIM:244200 OMIM:619539 OMIM:151050 OMIM:212720 ORPHA:544503 OMIM:303600 OMIM:309583 OMIM:613849 OMIM:213980 ORPHA:506358 OMIM:617557
 

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