TaoMedAI/RareMedData huggingface dataset:
Gene: INTS1
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Short neck (HP:0000470)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: INTS1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Gene: LYSET
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Wide humerus (HP:0003886)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Scoliosis (HP:0002650)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Severe short stature (HP:0003510)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Elongated femoral neck (HP:0033985)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Glenoid fossa hypoplasia (HP:0006633)
Associated disease: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE (OMIM:619345)
Gene: LYSET
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LYSET
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LYSET
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN22
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: PTPN22
Phenotype: Elevated circulating calprotectin concentration (HP:6000502)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Visual field defect (HP:0001123)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Epiphora (HP:0009926)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Anti-proteinase 3 antibody positivity (HP:0033557)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Anti-myeloperoxidase antibody positivity (HP:0033559)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Scalp tenderness (HP:0100809)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Meningitis (HP:0001287)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Meningitis (HP:0001287)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Seizure (HP:0001250)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Seizure (HP:0001250)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Ataxia (HP:0001251)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Dysarthria (HP:0001260)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Polyphagia (HP:0002591)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: PTPN22
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Pulmonary nodule (HP:0033608)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Dalen Fuchs nodules (HP:6000710)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Proteinuria (HP:0000093)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Ureteral stenosis (HP:0000071)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Corneal keratic precipitates (HP:0025341)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
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: PTPN22
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Arthritis (HP:0001369)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Arthritis (HP:0001369)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
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: PTPN22
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Arthritis (HP:0001369)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Arthritis (HP:0001369)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
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: PTPN22
Phenotype: Joint swelling (HP:0001386)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
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: PTPN22
Phenotype: Joint stiffness (HP:0001387)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
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: PTPN22
Phenotype: Prostatitis (HP:0000024)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Malaise (HP:0033834)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
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: PTPN22
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Nuchal rigidity (HP:0031179)
Associated disease: Uveomenigitic syndrome; Vogt-Koyanagi-Harada disease (ORPHA:3437)
Gene: PTPN22
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Malar rash (HP:0025300)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: PTPN22
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Vasculitis (HP:0002633)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Vasculitis (HP:0002633)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Vasculitis (HP:0002633)
Associated disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Gene: PTPN22
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Giant cell arteritis; Temporal arteritis; Horton disease (ORPHA:397)
Gene: PTPN22
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: PTPN22
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: PTPN22
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN22
Phenotype: Decreased level of 1,5 anhydroglucitol in serum (HP:0410050)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)