TaoMedAI/RareMedData huggingface dataset:
Gene: GYG1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Increased mitochondrial number (HP:0040014)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Muscle fiber inclusion bodies (HP:0100299)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Decreased muscle glycogen content (HP:0012270)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: ST segment elevation (HP:0012251)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYG1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: Glycogenosis type XV; GSD with severe cardiomyopathy due to glycogenin deficiency; GSD type 15; GSD type XV; Glycogen storage disease type XV; Glycogen storage disease type 15; Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis with severe cardiomyopathy due to glycogenin deficiency; Glycogenosis type 15 (ORPHA:263297)
Gene: GYG1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: POLYGLUCOSAN BODY MYOPATHY 2 (OMIM:616199)
Gene: GYG1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: GLYCOGEN STORAGE DISEASE XV (OMIM:613507)
Gene: GYPC
Phenotype: Chills (HP:0025143)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Skin ulcer (HP:0200042)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Fever (HP:0001945)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Jaundice (HP:0000952)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Fatigue (HP:0012378)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYPC
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: GYS1
Phenotype: Stroke (HP:0001297)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS1
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS1
Phenotype: Decreased muscle glycogen content (HP:0012270)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Gene: GYS2
Phenotype: Lethargy (HP:0001254)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Seizure (HP:0001250)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Gene: GYS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Gene: GYS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Gene: GYS2
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Gene: GYS2
Phenotype: Ketosis (HP:0001946)
Associated disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Gene: GYS2
Phenotype: Ketosis (HP:0001946)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Gene: GYS2
Phenotype: Short stature (HP:0004322)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Glycosuria (HP:0003076)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Irritability (HP:0000737)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Gene: GYS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Ketonuria (HP:0002919)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GYS2
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; GSD type 0a; GSD due to hepatic glycogen synthase deficiency; Glycogenosis type 0a (ORPHA:2089)
Gene: GUCY2D
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Typified by age-related disease onset (HP:0003831)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Hemeralopia (HP:0012047)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Full-thickness macular hole (HP:0031152)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I (OMIM:618555)
Gene: GUCY2D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1 (OMIM:215500)
Gene: GUCY2D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Eye poking (HP:0001483)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Hyperthreoninemia (HP:0003354)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Fundus atrophy (HP:0001099)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Blindness (HP:0000618)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Photophobia (HP:0000613)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1 (OMIM:215500)
Gene: GUCY2D
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Nyctalopia (HP:0000662)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I (OMIM:618555)
Gene: GUCY2D
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)