TaoMedAI/RareMedData huggingface dataset:
Gene: PTPN11
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Ptosis (HP:0000508)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: PTPN11
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Ptosis (HP:0000508)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Delayed menarche (HP:0012569)
Associated disease: LEOPARD SYNDROME 1 (OMIM:151100)
Gene: PTPN11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: PTPN11
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN11
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTPN11
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTPN11
Phenotype: Myopia (HP:0000545)
Associated disease: NOONAN SYNDROME 1 (OMIM:163950)
Gene: PTPN12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPN12
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPN12
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPN12
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPN12
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPN12
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPN12
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPN14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
Gene: PTPN14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Lymphedema (HP:0001004)
Associated disease: CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
Gene: PTPN14
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: High palate (HP:0000218)
Associated disease: CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
Gene: PTPN14
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
Gene: PTPN14
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Choanal atresia (HP:0000453)
Associated disease: CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
Gene: PTPN14
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPN14
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTPRC
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Death in childhood (HP:0003819)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Absence of lymph node germinal center (HP:0002849)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRC
Phenotype: Pancytopenia (HP:0001876)
Associated disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Gene: PTPRF
Phenotype: Absent nipple (HP:0002561)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Hypoplastic areola (HP:0100853)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Male urethral meatus stenosis (HP:0032077)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Small earlobe (HP:0000385)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRF
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Gene: PTPRJ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPRJ
Phenotype: Menorrhagia (HP:0000132)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPRJ
Phenotype: Congenital onset (HP:0003577)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Decreased mean platelet volume (HP:0005537)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPRJ
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Petechiae (HP:0000967)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPRJ
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPRJ
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPRJ
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PTPRJ
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRJ
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Gene: PTPRO
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Edema (HP:0000969)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTPRO
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Gene: PTPRO
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: PTS
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Excessive salivation (HP:0003781)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Excessive salivation (HP:0003781)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Poor head control (HP:0002421)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Motor delay (HP:0001270)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Ataxia (HP:0001251)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Falls (HP:0002527)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Dystonia (HP:0001332)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Dystonia (HP:0001332)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Tremor (HP:0001337)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Parkinsonism (HP:0001300)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Poor suck (HP:0002033)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Dysphagia (HP:0002015)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Bradykinesia (HP:0002067)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Rigidity (HP:0002063)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)