TaoMedAI/RareMedData huggingface dataset:
Gene: IL2RB
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: IL2RB
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
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: IL2RB
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
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: IL2RB
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: IL2RB
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: IL2RB
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: IL2RB
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: IL2RB
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
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: IL2RB
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: IL2RB
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Ichthyosis (HP:0008064)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
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: IL2RB
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: IL2RB
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
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: IL2RB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Anterior chamber synechiae (HP:0007833)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Lymphocytic interstitial pneumonia (HP:0006527)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
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: IL2RB
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
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: IL2RB
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
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: IL2RB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Cataract (HP:0000518)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
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: IL2RB
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: IL2RB
Phenotype: Glaucoma (HP:0000501)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Band keratopathy (HP:0000585)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Gene: IL2RB
Phenotype: Uveitis (HP:0000554)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RB
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: IL2RB
Phenotype: Visual loss (HP:0000572)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: IL2RG
Phenotype: Recurrent bacterial meningitis (HP:0007274)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Sepsis (HP:0100806)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Lymphoma (HP:0002665)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Lymph node hypoplasia (HP:0002732)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Diarrhea (HP:0002014)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Pneumonia (HP:0002090)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Pneumonia (HP:0002090)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Pneumonia (HP:0002090)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Recurrent fever (HP:0001954)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Recurrent cutaneous fungal infections (HP:0011370)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)