Human Phenotype Ontology 
Grandparent Node:
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Abnormality of fluid regulation (HP:0011032)help
Parent Node:
expand
Abnormal joint morphology (HP:0001367)help
Parent Node:
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Edema (HP:0000969)help
..Starting node
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Joint swelling (HP:0001386)help
Term ID: 1386
Name: Joint swelling
Synonym: Joint swelling
Definition:
Comments:
Reference: HP:0001386
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAngioedema (HP:0100665) help
..expandCerebral edema (HP:0002181) help
..expandCorneal stromal edema (HP:0012040) help
..expandEdema of the dorsum of feet (HP:0012098) help
..expandEdema of the dorsum of hands (HP:0007514) help
..expandEdema of the upper limbs (HP:0010742) help
..expandFacial edema (HP:0000282) help
..expandGeneralized edema (HP:0007430) help
..expandGenital edema (HP:0031188) help
..expandHydrops fetalis (HP:0001789) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHypoproteinemic edema (HP:0007609) help
..expandIncreased nuchal translucency (HP:0010880) help
..expandIntestinal edema (HP:0005225) help
..expandLaryngeal edema (HP:0012027) help
..expandLymphedema (HP:0001004) help
..expandMacular edema (HP:0040049) help
..expandMuscular edema (HP:0100748) help
..expandPeau d'orange (HP:0025533) help
..expandPedal edema (HP:0010741) help
..expandPeripheral edema (HP:0012398) help
..expandPharyngeal edema (HP:0011855) help
..expandPleural effusion (HP:0002202) help
..expandPulmonary edema (HP:0100598) help
..expandTongue edema (HP:0040315) 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:0001386HP:0001386Joint swelling0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001386HP:0001386Joint swelling0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0001386HP:0001386Joint swelling0ANKH CL E G H5617215492ORPHA:1416Familial calcium pyrophosphate depositionHP:0040281 - Very frequent164
HP:0001386HP:0001386Joint swelling0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001386HP:0001386Joint swelling0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040281 - Very frequent78
HP:0001386HP:0001386Joint swelling0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0001386HP:0001386Joint swelling0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001386HP:0001386Joint swelling0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0001386HP:0001386Joint swelling0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0001386HP:0001386Joint swelling0CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood.
HP:0001386HP:0001386Joint swelling0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040281 - Very frequent
HP:0001386HP:0001386Joint swelling0CD244 CL E G H5174418171OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0001386HP:0001386Joint swelling0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent8
HP:0001386HP:0001386Joint swelling0CHEK2 CL E G H1120016627ORPHA:668OsteosarcomaHP:0040282 - Frequent833
HP:0001386HP:0001386Joint swelling0CIITA CL E G H42617067OMIM:180300RHEUMATOID ARTHRITIS; RA118
HP:0001386HP:0001386Joint swelling0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001386HP:0001386Joint swelling0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001386HP:0001386Joint swelling0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001386HP:0001386Joint swelling0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0001386HP:0001386Joint swelling0F8 CL E G H21573546ORPHA:169805Moderate hemophilia AHP:0040283 - Occasional303
HP:0001386HP:0001386Joint swelling0F8 CL E G H21573546ORPHA:169802Severe hemophilia AHP:0040282 - Frequent303
HP:0001386HP:0001386Joint swelling0FGA CL E G H22433661ORPHA:98880Familial afibrinogenemiaHP:0040281 - Very frequent47
HP:0001386HP:0001386Joint swelling0FGB CL E G H22443662ORPHA:98880Familial afibrinogenemiaHP:0040281 - Very frequent62
HP:0001386HP:0001386Joint swelling0FGG CL E G H22663694ORPHA:98880Familial afibrinogenemiaHP:0040281 - Very frequent34
HP:0001386HP:0001386Joint swelling0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001386HP:0001386Joint swelling0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0001386HP:0001386Joint swelling0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0001386HP:0001386Joint swelling0HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040281 - Very frequent77
HP:0001386HP:0001386Joint swelling0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0001386HP:0001386Joint swelling0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0001386HP:0001386Joint swelling0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0001386HP:0001386Joint swelling0HPGD CL E G H32485154ORPHA:1525Cranio-osteoarthropathyHP:0040282 - Frequent55
HP:0001386HP:0001386Joint swelling0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent55
HP:0001386HP:0001386Joint swelling0IL10 CL E G H35865962OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0001386HP:0001386Joint swelling0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0001386HP:0001386Joint swelling0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent65
HP:0001386HP:0001386Joint swelling0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001386HP:0001386Joint swelling0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0001386HP:0001386Joint swelling0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0001386HP:0001386Joint swelling0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0001386HP:0001386Joint swelling0MEFV CL E G H42106998ORPHA:329967Intermittent hydrarthrosisHP:0040281 - Very frequent281
HP:0001386HP:0001386Joint swelling0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0001386HP:0001386Joint swelling0NFKBIL1 CL E G H47957800OMIM:180300RHEUMATOID ARTHRITIS; RA1
HP:0001386HP:0001386Joint swelling0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040281 - Very frequent187
HP:0001386HP:0001386Joint swelling0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0001386HP:0001386Joint swelling0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0001386HP:0001386Joint swelling0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0001386HP:0001386Joint swelling0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001386HP:0001386Joint swelling0PTPN22 CL E G H261919652OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0001386HP:0001386Joint swelling0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent3
HP:0001386HP:0001386Joint swelling0RB1 CL E G H59259884ORPHA:668OsteosarcomaHP:0040282 - Frequent365
HP:0001386HP:0001386Joint swelling0SLC22A4 CL E G H658310968OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0001386HP:0001386Joint swelling0SLC40A1 CL E G H3006110909ORPHA:139491Hemochromatosis type 4HP:0040281 - Very frequent56
HP:0001386HP:0001386Joint swelling0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent13
HP:0001386HP:0001386Joint swelling0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040282 - Frequent2
HP:0001386HP:0001386Joint swelling0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0001386HP:0001386Joint swelling0TNFRSF11B CL E G H498211909ORPHA:1416Familial calcium pyrophosphate depositionHP:0040281 - Very frequent44
HP:0001386HP:0001386Joint swelling0TNFRSF1A CL E G H713211916ORPHA:329967Intermittent hydrarthrosisHP:0040281 - Very frequent131
HP:0001386HP:0001386Joint swelling0TP53 CL E G H715711998ORPHA:668OsteosarcomaHP:0040282 - Frequent911
HP:0001386HP:0001386Joint swelling0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040282 - Frequent46


Genes (53) :ACP5 AIP ANKH ANKRD55 ASAH1 ATP7B BMP6 BTNL2 CCN6 CD244 CD247 CHEK2 CIITA COL1A1 COL5A1 COL5A2 DDR2 F8 FGA FGB FGG GNB2 GPR101 HFE HGD HLA-B HLA-DRB1 HPGD IL10 IL1RN IL2RA IL2RB IL6 LACC1 LPIN2 MEFV MIF NFKBIL1 NOD2 OCRL OTULIN PTPN2 PTPN22 RB1 SLC22A4 SLC40A1 SLCO2A1 STAT4 SYK TNFRSF11B TNFRSF1A TP53 TRAPPC2

Diseases (34) :OMIM:607944 ORPHA:963 ORPHA:1416 ORPHA:85408 ORPHA:333 OMIM:228000 ORPHA:905 ORPHA:465508 ORPHA:797 OMIM:208230 ORPHA:1159 OMIM:180300 ORPHA:668 ORPHA:287 OMIM:618175 ORPHA:169805 ORPHA:169802 ORPHA:98880 OMIM:619503 ORPHA:56 ORPHA:29207 ORPHA:85414 ORPHA:1525 ORPHA:2796 OMIM:612852 OMIM:609628 ORPHA:329967 ORPHA:90340 OMIM:186580 ORPHA:534 OMIM:617099 ORPHA:139491 OMIM:619381 ORPHA:93284
 

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