TaoMedAI/RareMedData huggingface dataset:
Gene: PGAM2
Phenotype: Myopathy (HP:0003198)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGAM2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGAM2
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGAM2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGK1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Seizure (HP:0001250)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Ataxia (HP:0001251)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Ataxia (HP:0001251)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Tremor (HP:0001337)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Migraine (HP:0002076)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Migraine (HP:0002076)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Decreased hemoglobin concentration (HP:0020062)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Blindness (HP:0000618)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Emotional lability (HP:0000712)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Myopathy (HP:0003198)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Myopathy (HP:0003198)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Visual loss (HP:0000572)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GSD due to phosphoglycerate kinase 1 deficiency; Glycogenosis due to phosphoglycerate kinase 1 deficiency; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (ORPHA:713)
Gene: PGK1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (OMIM:300653)
Gene: PGK1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGK1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PGM1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Hepatitis (HP:0012115)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Dyspnea (HP:0002094)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Chronic hepatitis (HP:0200123)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Growth delay (HP:0001510)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Fatigue (HP:0012378)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Tachycardia (HP:0001649)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Gene: PGM3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Mild neurosensory hearing impairment (HP:0008587)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Sepsis (HP:0100806)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Seizure (HP:0001250)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Hypotonia (HP:0001252)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Ataxia (HP:0001251)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Ataxia (HP:0001251)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Dysarthria (HP:0001260)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Dysarthria (HP:0001260)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Drug allergy (HP:0410323)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Recurrent staphylococcal infections (HP:0007499)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Lymphoma (HP:0002665)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Myoclonus (HP:0001336)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Myoclonus (HP:0001336)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Food allergy (HP:0500093)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Asthma (HP:0002099)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Lactose intolerance (HP:0004789)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)