TaoMedAI/RareMedData huggingface dataset:
Gene: TRPS1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Growth delay (HP:0001510)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Growth delay (HP:0001510)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Triangular face (HP:0000325)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Macrotia (HP:0000400)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Macrotia (HP:0000400)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Short foot (HP:0001773)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Pes planus (HP:0001763)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Pear-shaped nose (HP:0000447)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Pear-shaped nose (HP:0000447)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Leukonychia (HP:0001820)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Leukonychia (HP:0001820)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Thin nail (HP:0001816)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Talipes (HP:0001883)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRU-TCA1-1
Phenotype: Abnormal circulating free T3 concentration (HP:0032209)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Abnormal thyroid-stimulating hormone level (HP:0031097)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Decreased circulating selenium concentration (HP:0033192)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Increased circulating free T3 (HP:0011788)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Euthyroid hyperthyroxinemia (HP:0008247)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Elevated circulating reverse T3 concentration (HP:0034288)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Abnormal circulating free T4 concentration (HP:0033076)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TRU-TCA1-1
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Gene: TSC1
Phenotype: Poor speech (HP:0002465)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Astrocytosis (HP:0002446)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Noncommunicating hydrocephalus (HP:0010953)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Sporadic (HP:0003745)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Ungual fibroma (HP:0100804)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Ungual fibroma (HP:0100804)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Seizure (HP:0001250)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Seizure (HP:0001250)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Seizure (HP:0001250)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Confetti-like hypopigmented macules (HP:0007449)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Abnormal urinary color (HP:0012086)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: TSC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TSC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LYMPHANGIOLEIOMYOMATOSIS (OMIM:606690)
Gene: TSC1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Renal cyst (HP:0000107)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: TSC1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Emphysema (HP:0002097)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Preauricular hair displacement (HP:0009554)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Chylopericardium (HP:0011852)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Adult onset (HP:0003581)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Achromatic retinal patches (HP:0009727)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Cardiac rhabdomyoma (HP:0009729)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Optic nerve glioma (HP:0009734)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Cortical tubers (HP:0009717)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Cortical tubers (HP:0009717)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Subependymal nodules (HP:0009716)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Subependymal nodules (HP:0009716)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Hypomelanotic macule (HP:0009719)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Subependymal giant-cell astrocytoma (HP:0009718)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Shagreen patch (HP:0009721)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Shagreen patch (HP:0009721)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Shagreen patch (HP:0009721)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Subungual fibromas (HP:0009724)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Atelectasis (HP:0100750)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Chest pain (HP:0100749)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Focal cortical dysplasia type II (HP:0032051)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Angiofibromas (HP:0010615)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Angiofibromas (HP:0010615)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)
Gene: TSC1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Gene: TSC1
Phenotype: Premature chromatid separation (HP:0200024)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: TUBEROUS SCLEROSIS 1 (OMIM:191100)
Gene: TSC1
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Gene: TSC1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TSC1
Phenotype: Skin plaque (HP:0200035)
Associated disease: Bourneville syndrome; Tuberous sclerosis; Tuberous sclerosis complex (ORPHA:805)