TaoMedAI/RareMedData huggingface dataset:
Gene: SLC37A4
Phenotype: Full cheeks (HP:0000293)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Doll-like facies (HP:0000295)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Narrow face (HP:0000275)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Gingivitis (HP:0000230)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Growth delay (HP:0001510)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Abnormal protein O-linked glycosylation (HP:0012358)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Abnormal protein N-linked glycosylation (HP:0012347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Round face (HP:0000311)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Pointed chin (HP:0000307)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Pes planus (HP:0001763)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Wide nose (HP:0000445)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: SLC37A4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Epistaxis (HP:0000421)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Glycogen storage disease due to G6P deficiency type Ib; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; G6PT deficiency; GSD due to G6PT deficiency; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogen storage disease type Ib; Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; GSD due to G6P deficiency type 1b; Glycogen storage disease type 1b; GSD type 1 non a; GSD type Ib; G6P translocase deficiency; GSD due to G6P deficiency type Ib; GSD type 1b; Glycogenosis type 1b; GSDIb; Glycogenosis type Ib (ORPHA:79259)
Gene: SLC37A4
Phenotype: Spider hemangioma (HP:0012522)
Associated disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Gene: SLC37A4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Gene: SLC37A4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Gene: GAA
Phenotype: Right axis deviation (HP:0033567)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Firm muscles (HP:0003725)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Increased circulating creatine kinase MB isoform (HP:0032232)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Motor delay (HP:0001270)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Areflexia (HP:0001284)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Areflexia (HP:0001284)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Macroglossia (HP:0000158)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Macroglossia (HP:0000158)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Floppy infant (HP:0008947)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Gene: GAA
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Multifocal hyperintensity of cerebral white matter on MRI (HP:0040329)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Glycogenosis type 2, infantile onset; Pompe disease, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis type II, infantile onset; Glycogen storage disease due to acid maltase deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type II, infantile onset; GSD type 2, infantile onset; Glycogen storage disease type 2, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset (ORPHA:308552)
Gene: GAA
Phenotype: Dyspnea (HP:0002094)
Associated disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)