TaoMedAI/RareMedData huggingface dataset:
Gene: ALDH2
Phenotype: Reduced acetaldehyde dehydrogenase level (HP:0003533)
Associated disease: ALCOHOL SENSITIVITY, ACUTE (OMIM:610251)
Gene: ALDH2
Phenotype: Facial flushing after alcohol intake (HP:0001033)
Associated disease: ALCOHOL SENSITIVITY, ACUTE (OMIM:610251)
Gene: ALDH1A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: ALDH1A3
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: ALDH1A3
Phenotype: Entropion (HP:0000621)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: True anophthalmia (HP:0011478)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Hypoplastic optic chiasm (HP:0034311)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: ALDH1A3
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: ALDH1A3
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: ALDH1A3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH1A3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: ALDH1A3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Gene: ALDH3A2
Phenotype: CNS demyelination (HP:0007305)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Seizure (HP:0001250)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Seizure (HP:0001250)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Spasticity (HP:0001257)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Spasticity (HP:0001257)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Reduced tissue fatty aldehyde dehydrogenase activity (HP:6000720)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Macular dots (HP:0032028)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Urticaria (HP:0001025)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Erythema (HP:0010783)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Macular crystals (HP:0030501)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Photophobia (HP:0000613)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Photophobia (HP:0000613)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Macular degeneration (HP:0000608)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Short stature (HP:0004322)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Short stature (HP:0004322)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Dry skin (HP:0000958)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Opacification of the corneal epithelium (HP:0007727)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Retinal thinning (HP:0030329)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Astigmatism (HP:0000483)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDH3A2
Phenotype: Alternating exotropia (HP:0031717)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Color vision defect (HP:0000551)
Associated disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Gene: ALDH3A2
Phenotype: Myopia (HP:0000545)
Associated disease: Fatty acid alcohol oxidoreductase deficiency; Sjögren-Larsson syndrome (ORPHA:816)
Gene: ALDOA
Phenotype: Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity (HP:6000555)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Motor delay (HP:0001270)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Specific learning disability (HP:0001328)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Myalgia (HP:0003326)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Cholecystitis (HP:0001082)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Fever (HP:0001945)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Anemia (HP:0001903)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Short stature (HP:0004322)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Myopathy (HP:0003198)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Jaundice (HP:0000952)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Epicanthus (HP:0000286)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Growth delay (HP:0001510)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Short neck (HP:0000470)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Ptosis (HP:0000508)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Reduced circulating aldolase concentration (HP:0012545)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOA
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Gene: ALDOA
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GSD due to aldolase A deficiency; Glycogen storage disease due to aldolase A deficiency; Glycogenosis type 12; GSD type 12; Glycogenosis type XII; Glycogen storage disease type 12; Glycogenosis due to aldolase A deficiency; Glycogen storage disease type XII; GSD type XII (ORPHA:57)
Gene: ALDOB
Phenotype: Reduced hepatic fructose-1,6-phosphate aldolase activity (HP:0034830)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Lethargy (HP:0001254)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Lethargy (HP:0001254)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Seizure (HP:0001250)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Coma (HP:0001259)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Coma (HP:0001259)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Cirrhosis (HP:0001394)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Reactive hypoglycemia (HP:0012051)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Nausea (HP:0002018)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Constipation (HP:0002019)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Diarrhea (HP:0002014)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)
Gene: ALDOB
Phenotype: Vomiting (HP:0002013)
Associated disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Gene: ALDOB
Phenotype: Vomiting (HP:0002013)
Associated disease: Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructose intolerance; Hereditary fructosemia (ORPHA:469)