{"Name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type IA","DiseaseID__c":"GARD:0007864","id":7864,"encodedName":"glycogen-storage-disease-due-to-glucose-6-phosphatase-deficiency-type-ia","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease due to glucose-6-phosphatase deficiency type IA","Xref_IDs__c":"444707001; C162398; C2919796; C538655; DOID:2749; MEDGEN:415885; MONDO:0009287; OMIM:232200; ORPHA:79258","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009287","Disease_Description__c":"Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).","GARD_Name__c":"Glycogen storage disease due to glucose-6-phosphatase deficiency type IA","GARD_Synonym__c":"g6p deficiency type 1a; g6pc glycogen storage disease; glucose-6-phosphatase deficiency; glucose-6-phosphatase deficiency glycogen storage disease; glycogen storage disease caused by mutation in g6pc; glycogen storage disease due to g6p deficiency type ia; glycogen storage disease type 1a; glycogen storage disease type ia; glycogenosis due to glucose-6-phosphatase deficiency type 1a; glycogenosis due to glucose-6-phosphatase deficiency type ia; glycogenosis type ia; gsd due to g6p deficiency type 1a; gsd due to g6p deficiency type ia; gsd ia; gsd type 1a; gsd1a; gsdia; hepatorenal form of glycogen storage disease","Curated_Disease_Description_Source__c":"GARD:0007864","Curated_Disease_Description__c":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Glycogen storage disease type 1A is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. Although some newborns present with severe hypoglycemia, it is more common for infants to present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures. Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem. Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from genetic changes in the G6PC gene. This condition is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79258","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009287","ORPHANET_ID__c":"ORPHA:79258","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa tipo ia","Spanish_Description_Source__c":"ORPHA:79258","Spanish_Description__c":"La glucogenosis por deficiencia de glucosa-6-fosfatasa (G6P) de tipo a, o enfermedad por depósito de glucógeno tipo 1a, es un tipo de glucogenosis por deficiencia de G6P (véase este término).","Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa tipo ia","Spanish_GARD_Synonym__c":"deficiencia de g6p tipo ia; enfermedad por almacenamiento de glucógeno por deficiencia de g6p tipo ia; enfermedad por almacenamiento de glucógeno tipo 1a; glucogenosis por deficiencia de glucosa-6-fosfatasa tipo 1a; glucogenosis por deficiencia de glucosa-6-fosfatasa tipo ia; glucogenosis tipo ia; gsd por deficiencia de g6p tipo 1a; gsd por deficiencia de g6p tipo ia; gsd tipo 1a; gsdia","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Glycogen storage disease type 1A is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. Although some newborns present with severe hypoglycemia, it is more common for infants to present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures. Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem. Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from genetic changes in the G6PC gene. This condition is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0007864","GARD_Synonym__c":"g6p deficiency type 1a; g6pc glycogen storage disease; glucose-6-phosphatase deficiency; glucose-6-phosphatase deficiency glycogen storage disease; glycogen storage disease caused by mutation in g6pc; glycogen storage disease due to g6p deficiency type ia; glycogen storage disease type 1a; glycogen storage disease type ia; glycogenosis due to glucose-6-phosphatase deficiency type 1a; glycogenosis due to glucose-6-phosphatase deficiency type ia; glycogenosis type ia; gsd due to g6p deficiency type 1a; gsd due to g6p deficiency type ia; gsd ia; gsd type 1a; gsd1a; gsdia; hepatorenal form of glycogen storage disease","Name":"Glycogen storage disease due to glucose-6-phosphatase deficiency type IA","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.org"},{"Account_Name__c":"Association for Glycogen Storage Disease UK","Website__c":"https://www.agsd.org.uk/"},{"Account_Name__c":"The Children's Fund for Glycogen Storage Disease Research","Website__c":"https://www.curegsd.org/"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"Canadian Association for Glycogen Storage Disease","Website__c":"https://www.canadianagsd.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79258"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79258"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2919796"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007864","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1312","Source__c":"Gene Review","Xref__c":"NBK1312"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=415885","Source__c":"C2919796","Xref__c":"MEDGEN:415885"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2749","Source__c":"MONDO:0009287","Xref__c":"DOID:2749"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538655","Source__c":"MONDO:0009287","Xref__c":"C538655"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=444707001","Source__c":"C2919796; MONDO:0009287","Xref__c":"444707001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2919796","Source__c":"C2919796","Xref__c":"C2919796"},{"URL__c":"https://www.omim.org/entry/232200","Source__c":"C2919796; MONDO:0009287; ORPHA:79258","Xref__c":"OMIM:232200"},{"URL__c":"https://www.orpha.net/en/disease/detail/79258","Source__c":"C2919796; MONDO:0009287; ORPHA:79258","Xref__c":"ORPHA:79258"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C162398","Source__c":"C2919796","Xref__c":"C162398"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009287","Source__c":"GARD:0007864","Xref__c":"MONDO:0009287"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"G6PC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/g6pc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"A thrusting or bulging out of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001538","HPO_Synonym__c":"Abdominal protuberance; Belly sticks out; Extended belly","HPO_Name__c":"Protuberant abdomen","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:232200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated lipid concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003077","HPO_Synonym__c":"Elevated lipids in blood","HPO_Name__c":"Hyperlipidemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000991","HPO_Synonym__c":"Xanthomata; Yellow bumps of fatty deposits on skin","HPO_Name__c":"Xanthomatosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000295","HPO_Synonym__c":"Doll-like facial appearance","HPO_Name__c":"Doll-like facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000660","HPO_Name__c":"Lipemia retinalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"OMIM:232200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003199","HPO_Synonym__c":"Decreased muscle mass","HPO_Name__c":"Decreased muscle mass","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"The presence of xanthomata in the skin of the eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001114","HPO_Synonym__c":"Fatty deposits in skin around the eyes; Fatty deposits on eyelids; Xanthelasma palpebrarum; Xanthoma","HPO_Name__c":"Xanthelasma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"Repeated episodes of diarrhea separated by periods without diarrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002254","HPO_Synonym__c":"Episodic diarrhea","HPO_Name__c":"Intermittent diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:232200","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003162","HPO_Synonym__c":"Low blood sugar when fasting","HPO_Name__c":"Fasting hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"Segmental accumulation of scar tissue in individual (but not all) glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000097","HPO_Synonym__c":"Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; focal glomerulosclerosis","HPO_Name__c":"Focal segmental glomerulosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001997","HPO_Synonym__c":"Gouty arthritis","HPO_Name__c":"Gout","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012213","HPO_Synonym__c":"Decreased GFR; Impaired renal creatinine clearance; Reduced creatinine clearance","HPO_Name__c":"Decreased glomerular filtration rate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"An abnormal increase in the size of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000105","HPO_Synonym__c":"Enlarged kidney; Large kidneys; Nephromegaly; Renal enlargement","HPO_Name__c":"Enlarged kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:232200","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Gastroenterology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["g6p deficiency type 1a"," g6pc glycogen storage disease"," glucose-6-phosphatase deficiency"," glucose-6-phosphatase deficiency glycogen storage disease"," glycogen storage disease caused by mutation in g6pc"," glycogen storage disease due to g6p deficiency type ia"," glycogen storage disease type 1a"," glycogen storage disease type ia"," glycogenosis due to glucose-6-phosphatase deficiency type 1a"," glycogenosis due to glucose-6-phosphatase deficiency type ia"," glycogenosis type ia"," gsd due to g6p deficiency type 1a"," gsd due to g6p deficiency type ia"," gsd ia"," gsd type 1a"," gsd1a"," gsdia"," hepatorenal form of glycogen storage disease"]}