TaoMedAI/RareMedData huggingface dataset:
Gene: AGL
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GDE deficiency; Amylo-1,6-glucosidase deficiency; GSD type 3; Limit dextrinosis; Glycogenosis type III; Glycogen storage disease type III; Glycogen storage disease due to glycogen debranching enzyme deficiency; Cori disease; Cori-Forbes disease; GSDIII; Glycogen storage disease type 3; Forbes disease; GSD due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis due to glycogen debranching enzyme deficiency (ORPHA:366)
Gene: AGL
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Short stature (HP:0004322)
Associated disease: GDE deficiency; Amylo-1,6-glucosidase deficiency; GSD type 3; Limit dextrinosis; Glycogenosis type III; Glycogen storage disease type III; Glycogen storage disease due to glycogen debranching enzyme deficiency; Cori disease; Cori-Forbes disease; GSDIII; Glycogen storage disease type 3; Forbes disease; GSD due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis due to glycogen debranching enzyme deficiency (ORPHA:366)
Gene: AGL
Phenotype: Short stature (HP:0004322)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Myopathy (HP:0003198)
Associated disease: GDE deficiency; Amylo-1,6-glucosidase deficiency; GSD type 3; Limit dextrinosis; Glycogenosis type III; Glycogen storage disease type III; Glycogen storage disease due to glycogen debranching enzyme deficiency; Cori disease; Cori-Forbes disease; GSDIII; Glycogen storage disease type 3; Forbes disease; GSD due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis due to glycogen debranching enzyme deficiency (ORPHA:366)
Gene: AGL
Phenotype: Myopathy (HP:0003198)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Full cheeks (HP:0000293)
Associated disease: GDE deficiency; Amylo-1,6-glucosidase deficiency; GSD type 3; Limit dextrinosis; Glycogenosis type III; Glycogen storage disease type III; Glycogen storage disease due to glycogen debranching enzyme deficiency; Cori disease; Cori-Forbes disease; GSDIII; Glycogen storage disease type 3; Forbes disease; GSD due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis due to glycogen debranching enzyme deficiency (ORPHA:366)
Gene: AGL
Phenotype: Malar flattening (HP:0000272)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Deeply set eye (HP:0000490)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGL
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Gene: AGRP
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: AGRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: AGRP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: AGRP
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: AGRP
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: AGRP
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: JAG1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Multiple small medullary renal cysts (HP:0008659)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Stroke (HP:0001297)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Areflexia (HP:0001284)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Cholestasis (HP:0001396)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Areflexia of upper limbs (HP:0012046)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Tremor (HP:0001337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: JAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Triceps weakness (HP:0031108)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Axenfeld anomaly (HP:0001492)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Butterfly vertebral arch (HP:0004617)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Migraine (HP:0002076)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Fasciculations (HP:0002380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: JAG1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Polyminimyoclonus (HP:0031986)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Long nose (HP:0003189)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: JAG1
Phenotype: Stridor (HP:0010307)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Edema (HP:0000969)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Reduced number of intrahepatic bile ducts (HP:0006571)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Broad forehead (HP:0000337)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: JAG1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Triangular face (HP:0000325)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Night sweats (HP:0030166)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: JAG1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Macrotia (HP:0000400)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Strabismus (HP:0000486)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Microcornea (HP:0000482)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON (OMIM:617992)
Gene: JAG1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH (OMIM:619574)
Gene: JAG1
Phenotype: Cataract (HP:0000518)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: JAG1
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: JAG1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Band keratopathy (HP:0000585)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: JAG1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: JAG1
Phenotype: Myopia (HP:0000545)
Associated disease: ALAGILLE SYNDROME 1 (OMIM:118450)
Gene: AGT
Phenotype: Renotubular dysgenesis (HP:0008660)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Hypotension (HP:0002615)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Anuria (HP:0100519)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Microcephaly (HP:0000252)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGT
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Renotubular dysgenesis (HP:0008660)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Hypotension (HP:0002615)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: AGTR1
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Anuria (HP:0100519)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: AGTR1
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: AGTR1
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: AGTR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGTR1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: AGXT
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Calcinosis (HP:0003761)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Stroke (HP:0001297)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Elevated urinary glyoxylic acid level (HP:6000702)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)