TaoMedAI/RareMedData huggingface dataset:
Gene: IL2RA
Phenotype: Arthritis (HP:0001369)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Joint swelling (HP:0001386)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Myalgia (HP:0003326)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Synovitis (HP:0100769)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Erythroderma (HP:0001019)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Thyroiditis (HP:0100646)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Cellulitis (HP:0100658)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Decreased proportion of regulatory T cells (HP:0020113)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Enthesitis (HP:0100686)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Anemia (HP:0001903)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Villous atrophy (HP:0011473)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: TYPE 1 DIABETES MELLITUS 10 (OMIM:601942)
Gene: IL2RA
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Enlarged tonsils (HP:0030812)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Scaling skin (HP:0040189)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Arthralgia (HP:0002829)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Decreased specific anti-polysaccharide antibody level (HP:0002848)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Anterior chamber synechiae (HP:0007833)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Synovial lining hyperplasia (HP:0005186)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Low-grade fever (HP:0011134)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Ankle swelling (HP:0001785)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Cataract (HP:0000518)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Weight loss (HP:0001824)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Abnormal metatarsal morphology (HP:0001832)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Glaucoma (HP:0000501)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Band keratopathy (HP:0000585)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Prominent forehead (HP:0011220)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RA
Phenotype: Uveitis (HP:0000554)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Uveitis (HP:0000554)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RA
Phenotype: Visual loss (HP:0000572)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RA
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Gene: IL2RB
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Arthritis (HP:0001369)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Arthritis (HP:0001369)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Joint swelling (HP:0001386)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Myalgia (HP:0003326)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: IL2RB
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)