{"Name":"Glycogen storage disease IXb","DiseaseID__c":"GARD:0016711","id":16711,"encodedName":"glycogen-storage-disease-ixb","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease IXb","Xref_IDs__c":"C0543514; C563008; DOID:0111041; MEDGEN:107772; MONDO:0009868; OMIM:261750; ORPHA:79240","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009868","Disease_Description__c":"A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.","GARD_Name__c":"Glycogen storage disease IXb","GARD_Synonym__c":"glycogen storage disease 9b; glycogen storage disease caused by mutation in phkb; glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency; glycogen storage disease due to liver and muscle phosphorylase kinase deficiency; glycogen storage disease type 9b; glycogen storage disease type ixb; glycogenosis due to liver and muscle phosphorylase kinase deficiency; glycogenosis of liver and muscle, autosomal recessive; glycogenosis type 9b; glycogenosis type ixb; gsd due to liver and muscle phosphorylase kinase deficiency; gsd ixb; gsd type 9b; gsd type ixb; gsd9b; phkb glycogen storage disease; phkb-related glycogen storage disease type ix; phkb-related phosphorylase kinase deficiency; phosphorylase kinase deficiency of liver and muscle, autosomal recessive","Curated_Disease_Description_Source__c":"ORPHA:79240","Curated_Disease_Description__c":"A benign inborn error of glycogen metabolism. It is the mildest form of Glycogen Storage Disease due to PhK deficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79240","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009868","ORPHANET_ID__c":"ORPHA:79240","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de fosforilasa quinasa hepática y muscular","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de fosforilasa quinasa hepática y muscular","Spanish_GARD_Synonym__c":"enfermedad de almacenamiento de glucógeno tipo 9b; enfermedad de almacenamiento de glucógeno tipo ixb; glucogenosis por deficiencia de fosforilasa quinasa hepática y muscular; glucogenosis tipo 9b; glucogenosis tipo ixb; gsd por deficiencia de fosforilasa quinasa hepática y muscular; gsd tipo 9b; gsd tipo ixb","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":"A benign inborn error of glycogen metabolism. It is the mildest form of Glycogen Storage Disease due to PhK deficiency.","Curated_Disease_Description_Source__c":"ORPHA:79240","GARD_Synonym__c":"glycogen storage disease 9b; glycogen storage disease caused by mutation in phkb; glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency; glycogen storage disease due to liver and muscle phosphorylase kinase deficiency; glycogen storage disease type 9b; glycogen storage disease type ixb; glycogenosis due to liver and muscle phosphorylase kinase deficiency; glycogenosis of liver and muscle, autosomal recessive; glycogenosis type 9b; glycogenosis type ixb; gsd due to liver and muscle phosphorylase kinase deficiency; gsd ixb; gsd type 9b; gsd type ixb; gsd9b; phkb glycogen storage disease; phkb-related glycogen storage disease type ix; phkb-related phosphorylase kinase deficiency; phosphorylase kinase deficiency of liver and muscle, autosomal recessive","Name":"Glycogen storage disease IXb","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.org"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:79240"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK55061","Source__c":"Gene Review","Xref__c":"NBK55061"},{"URL__c":"https://www.omim.org/entry/261750","Source__c":"C0543514; MONDO:0009868; ORPHA:79240","Xref__c":"OMIM:261750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=107772","Source__c":"C0543514","Xref__c":"MEDGEN:107772"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111041","Source__c":"MONDO:0009868","Xref__c":"DOID:0111041"},{"URL__c":"https://www.orpha.net/en/disease/detail/79240","Source__c":"C0543514; MONDO:0009868; ORPHA:79240","Xref__c":"ORPHA:79240"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0543514","Source__c":"C0543514","Xref__c":"C0543514"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563008","Source__c":"MONDO:0009868","Xref__c":"C563008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009868","Source__c":"GARD:0016711","Xref__c":"MONDO:0009868"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=860860004","Source__c":"C0543514","Xref__c":"860860004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PHKB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/phkb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79240","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:79240","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:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign tumor of the liver of presumably epithelial origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012028","HPO_Synonym__c":"Hepatic adenoma; Liver cell adenoma","HPO_Name__c":"Hepatocellular adenoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:79240","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of cholesterol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003124","HPO_Synonym__c":"Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol","HPO_Name__c":"Hypercholesterolemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally high variation in the amount of time between periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000858","HPO_Synonym__c":"Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity","HPO_Name__c":"Irregular menstruation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003201","HPO_Synonym__c":"Breakdown of skeletal muscle","HPO_Name__c":"Rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","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:79240","HPO_Frequency__c":"Very frequent (80-99%)","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:79240","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":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011342","HPO_Synonym__c":"Global developmental delay, mild","HPO_Name__c":"Mild global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Low blood glucose is accompanied by elevated levels of ketone bodies in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012734","HPO_Synonym__c":"Ketotic low blood sugar","HPO_Name__c":"Ketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent menses (less than 6 per year or more than 35 days between cycles).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000876","HPO_Synonym__c":"Light or infrequent menstrual periods","HPO_Name__c":"Oligomenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003325","HPO_Synonym__c":"Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle","HPO_Name__c":"Limb-girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally increased body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004324","HPO_Synonym__c":"Increased body weight","HPO_Name__c":"Increased body weight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain during menstruation that interferes with daily activities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100607","HPO_Synonym__c":"Painful menstruation","HPO_Name__c":"Dysmenorrhea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003323","HPO_Synonym__c":"Muscle weakness, progressive; Progressive muscular weakness","HPO_Name__c":"Progressive muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003749","HPO_Synonym__c":"Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness","HPO_Name__c":"Pelvic girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001988","HPO_Synonym__c":"hypoglycaemia, recurrent; hypoglycemia, recurrent; Hypoglycemic episodes; Recurrent hypoglycaemia; Recurrent hypoglycemic episodes; Recurrent low blood sugar levels","HPO_Name__c":"Recurrent hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79240","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001395","HPO_Synonym__c":"Liver fibrosis","HPO_Name__c":"Hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Gastroenterology","Neuromuscular medicine","Pediatrics"]},"synonyms":["glycogen storage disease 9b"," glycogen storage disease caused by mutation in phkb"," glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency"," glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"," glycogen storage disease type 9b"," glycogen storage disease type ixb"," glycogenosis due to liver and muscle phosphorylase kinase deficiency"," glycogenosis of liver and muscle, autosomal recessive"," glycogenosis type 9b"," glycogenosis type ixb"," gsd due to liver and muscle phosphorylase kinase deficiency"," gsd ixb"," gsd type 9b"," gsd type ixb"," gsd9b"," phkb glycogen storage disease"," phkb-related glycogen storage disease type ix"," phkb-related phosphorylase kinase deficiency"," phosphorylase kinase deficiency of liver and muscle, autosomal recessive"]}