TaoMedAI/RareMedData huggingface dataset:
Gene: TSC1
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Chordoma (HP:0010762)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TSC1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Fever (HP:0001945)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: TSC1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Cough (HP:0012735)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Macule (HP:0012733)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Anxiety (HP:0000739)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Depression (HP:0000716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Autism (HP:0000717)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Autism (HP:0000717)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Pulmonary lymphangiomyomatosis (HP:0012798)
Associated disease: LYMPHANGIOLEIOMYOMATOSIS (OMIM:606690)
Gene: TSC1
Phenotype: Retinal astrocytic hamartoma (HP:0012778)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Hematuria (HP:0000790)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TSC1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Hypertension (HP:0000822)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Chylothorax (HP:0010310)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Ependymoma (HP:0002888)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Ascites (HP:0001541)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: TSC1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TSC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TSC1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TSC1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Poor speech (HP:0002465)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Astrocytosis (HP:0002446)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Noncommunicating hydrocephalus (HP:0010953)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Sporadic (HP:0003745)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Ungual fibroma (HP:0100804)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Ungual fibroma (HP:0100804)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Seizure (HP:0001250)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Seizure (HP:0001250)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Seizure (HP:0001250)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Confetti-like hypopigmented macules (HP:0007449)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Abnormal urinary color (HP:0012086)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: TSC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LYMPHANGIOLEIOMYOMATOSIS (OMIM:606690)
Gene: TSC2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Renal cyst (HP:0000107)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Renal cyst (HP:0000107)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Emphysema (HP:0002097)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Chylopericardium (HP:0011852)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Adult onset (HP:0003581)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC2
Phenotype: Achromatic retinal patches (HP:0009727)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Optic nerve glioma (HP:0009734)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Cortical tubers (HP:0009717)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Cortical tubers (HP:0009717)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Subependymal nodules (HP:0009716)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Subependymal nodules (HP:0009716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Subependymal giant-cell astrocytoma (HP:0009718)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Subependymal giant-cell astrocytoma (HP:0009718)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Shagreen patch (HP:0009721)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Shagreen patch (HP:0009721)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Shagreen patch (HP:0009721)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Subungual fibromas (HP:0009724)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Atelectasis (HP:0100750)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Chest pain (HP:0100749)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC2
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Focal cortical dysplasia type II (HP:0032051)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC2
Phenotype: Angiofibromas (HP:0010615)
Associated disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Gene: TSC2
Phenotype: Angiofibromas (HP:0010615)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)