TaoMedAI/RareMedData huggingface dataset:
Gene: MT-TW
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Depression (HP:0000716)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Dementia (HP:0000726)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Dementia (HP:0000726)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Psychosis (HP:0000709)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Myopathy (HP:0003198)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Abnormality of Krebs cycle metabolism (HP:0000816)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Hypertension (HP:0000822)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Hyperventilation (HP:0002883)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Hemianopia (HP:0012377)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TW
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TW
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TW
Phenotype: Visual loss (HP:0000572)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MUC1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Hypotension (HP:0002615)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Renal cortical atrophy (HP:0002048)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Impaired renal uric acid clearance (HP:0004732)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Adult onset (HP:0003581)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Tubular basement membrane disintegration (HP:0005583)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Anemia (HP:0001903)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Gout (HP:0001997)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Hypertension (HP:0000822)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC1
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Gene: MUC7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: MUC7
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: MUC7
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: MUC7
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: MUC7
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TRIM37
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Dysarthria (HP:0001260)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Microglossia (HP:0000171)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)