TaoMedAI/RareMedData huggingface dataset:
Gene: PTH1R
Phenotype: Low-set ears (HP:0000369)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Long philtrum (HP:0000343)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Micrognathia (HP:0000347)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Micrognathia (HP:0000347)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Micrognathia (HP:0000347)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Micrognathia (HP:0000347)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Micromelia (HP:0002983)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Micromelia (HP:0002983)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Hypertelorism (HP:0000316)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Hypertelorism (HP:0000316)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Short philtrum (HP:0000322)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Premature birth (HP:0001622)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Premature birth (HP:0001622)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Genu varum (HP:0002970)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Fetal ascites (HP:0001791)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Gene: PTH1R
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Short foot (HP:0001773)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Broad foot (HP:0001769)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Choanal atresia (HP:0000453)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: Multiple Enchondromatosis type I; Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Gene: PTH1R
Phenotype: Cataract (HP:0000518)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Long hallux (HP:0001847)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTH1R
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Proptosis (HP:0000520)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Proptosis (HP:0000520)
Associated disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Gene: PTH1R
Phenotype: Proptosis (HP:0000520)
Associated disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Gene: PTH1R
Phenotype: Telecanthus (HP:0000506)
Associated disease: BLC; Chondrodysplasia, Blomstrand type; BOCD; Blomstrand chondrodysplasia; Blomstrand lethal chondrodysplasia; Blomstrand osteochondrodysplasia (ORPHA:50945)
Gene: PTH1R
Phenotype: Short toe (HP:0001831)
Associated disease: Eiken syndrome (ORPHA:79106)
Gene: PTH1R
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Prominent forehead (HP:0011220)
Associated disease: EIKEN SYNDROME (OMIM:600002)
Gene: PTH1R
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTH1R
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PTPN1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PTPN1
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PTPN1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PTPN1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PTPN2
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: PTPN2
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: PTPN2
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
Phenotype: Arthritis (HP:0001369)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
Phenotype: Oligoarthritis (HP:0040313)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
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: PTPN2
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
Phenotype: Anterior chamber synechiae (HP:0007833)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Cataract (HP:0000518)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
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: PTPN2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
Phenotype: Band keratopathy (HP:0000585)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
Phenotype: Uveitis (HP:0000554)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN2
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: PTPN2
Phenotype: Visual loss (HP:0000572)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: PTPN3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN3
Phenotype: Anorexia (HP:0002039)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN3
Phenotype: Biliary tract neoplasm (HP:0100574)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN3
Phenotype: Acholic stools (HP:0011985)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN3
Phenotype: Fever (HP:0001945)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN3
Phenotype: Pruritus (HP:0000989)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN3
Phenotype: Jaundice (HP:0000952)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN3
Phenotype: Fatigue (HP:0012378)
Associated disease: CCA; Cholangiocarcinoma; Bile duct cancer (ORPHA:70567)
Gene: PTPN6
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Non-periodic recurrent fever (HP:0032324)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Neoplasm (HP:0002664)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Predominantly dermal neutrophilic infiltrate (HP:0031236)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: PTPN6
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)