{"Name":"Fanconi-Bickel syndrome","DiseaseID__c":"GARD:0002268","id":2268,"encodedName":"fanconi-bickel-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Fanconi-Bickel syndrome","Xref_IDs__c":"61598006; C168998; C3495427; DOID:0070562; MEDGEN:501176; MONDO:0009216; OMIM:227810; ORPHA:2088","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009216","Disease_Description__c":"A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.","GARD_Name__c":"Fanconi-Bickel syndrome","GARD_Synonym__c":"bickel-fanconi glycogenosis; fanconi bickel syndrome; fanconi syndrome with intestinal malabsorption and galactose intolerance; fanconi-bickel disease; fbs; glycogen storage disease due to glut2 deficiency; glycogenosis due to glut2 deficiency; gsd due to glut2 deficiency; hepatic glycogenosis with amino aciduria and glucosuria; hepatic glycogenosis with fanconi nephropathy; hepatorenal glycogenosis with renal fanconi syndrome; pseudo-phlorizin diabetes","Curated_Disease_Description_Source__c":"GARD:0002268","Curated_Disease_Description__c":"Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease. Specifically, glycogen accumulates in the liver and kidneys. Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and weakened bones (rickets). Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly). Fanconi Bickel syndrome is caused by genetic changes to the SLC2A2 gene and is inherited in an autosomal recessive manner. Diagnosis of FBS is based on a clinical examination that shows signs of FBS. The condition can be confirmed by genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2088","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009216","ORPHANET_ID__c":"ORPHA:2088","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fanconi-bickel","Spanish_Description_Source__c":"ORPHA:2088","Spanish_Description__c":"Es una enfermedad por almacenamiento de glucógeno poco frecuente debida a una deficiencia de la familia de transportadores de soluto 2, miembro 2 facilitador del transporte de glucosa y caracterizada por un acúmulo de glucógeno hepatorrenal que conduce a una disfunción tubular renal grave con afectación del metabolismo de la glucosa y la galactosa.","Spanish_Disease_Name__c":"síndrome de fanconi-bickel","Spanish_GARD_Synonym__c":"enfermedad de almacenamiento de glucógeno por deficiencia de glut2; glucogenosis por deficiencia de glut2; gsd por deficiencia de glut2","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":"Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease. Specifically, glycogen accumulates in the liver and kidneys. Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and weakened bones (rickets). Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly). Fanconi Bickel syndrome is caused by genetic changes to the SLC2A2 gene and is inherited in an autosomal recessive manner. Diagnosis of FBS is based on a clinical examination that shows signs of FBS. The condition can be confirmed by genetic testing.","Curated_Disease_Description_Source__c":"GARD:0002268","GARD_Synonym__c":"bickel-fanconi glycogenosis; fanconi bickel syndrome; fanconi syndrome with intestinal malabsorption and galactose intolerance; fanconi-bickel disease; fbs; glycogen storage disease due to glut2 deficiency; glycogenosis due to glut2 deficiency; gsd due to glut2 deficiency; hepatic glycogenosis with amino aciduria and glucosuria; hepatic glycogenosis with fanconi nephropathy; hepatorenal glycogenosis with renal fanconi syndrome; pseudo-phlorizin diabetes","Name":"Fanconi-Bickel syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.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/"}],"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:2088"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2088"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002268","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3495427","Source__c":"C3495427","Xref__c":"C3495427"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070562","Source__c":"MONDO:0009216","Xref__c":"DOID:0070562"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61598006","Source__c":"MONDO:0009216","Xref__c":"61598006"},{"URL__c":"https://www.omim.org/entry/227810","Source__c":"C3495427; MONDO:0009216; ORPHA:2088","Xref__c":"OMIM:227810"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501176","Source__c":"C3495427","Xref__c":"MEDGEN:501176"},{"URL__c":"https://www.orpha.net/en/disease/detail/2088","Source__c":"C3495427; MONDO:0009216; ORPHA:2088","Xref__c":"ORPHA:2088"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009216","Source__c":"GARD:0002268","Xref__c":"MONDO:0009216"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C168998","Source__c":"C3495427","Xref__c":"C168998"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC2A2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004919","HPO_Name__c":"Galactose intolerance","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003076","HPO_Synonym__c":"Glucose in urine; Glucosuria","HPO_Name__c":"Glycosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040270","HPO_Synonym__c":"Decreased glucose tolerance; Glucose tolerance decreased","HPO_Name__c":"Impaired glucose tolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002748","HPO_Synonym__c":"Weak and soft bones","HPO_Name__c":"Rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001947","HPO_Synonym__c":"Accumulation of acid in body due to kidney problem","HPO_Name__c":"Renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood following a meal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011998","HPO_Name__c":"Postprandial hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial or complete breakage of the continuity of a bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020110","HPO_Name__c":"Bone fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of all types of amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002909","HPO_Synonym__c":"Generalized nonspecific aminoaciduria","HPO_Name__c":"Generalized aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in the amount of glycogen stored in hepatocytes compared to normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006568","HPO_Synonym__c":"Increased liver glycogen content","HPO_Name__c":"Increased hepatic glycogen content","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Uncommon (<1-4%)","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"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the level of triglycerides in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002155","HPO_Synonym__c":"Increased circulating Tg levels; Increased plasma Tg levels; Increased plasma triglycerides; Increased serum triglycerides; Increased triglycerides","HPO_Name__c":"Hypertriglyceridemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2088","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Change in normal glycogen storage content.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500030","HPO_Name__c":"Abnormal hepatic glycogen storage","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Gastroenterology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["bickel-fanconi glycogenosis"," fanconi bickel syndrome"," fanconi syndrome with intestinal malabsorption and galactose intolerance"," fanconi-bickel disease"," fbs"," glycogen storage disease due to glut2 deficiency"," glycogenosis due to glut2 deficiency"," gsd due to glut2 deficiency"," hepatic glycogenosis with amino aciduria and glucosuria"," hepatic glycogenosis with fanconi nephropathy"," hepatorenal glycogenosis with renal fanconi syndrome"," pseudo-phlorizin diabetes"]}