{"Name":"Maturity-onset diabetes of the young","DiseaseID__c":"GARD:0003697","id":3697,"encodedName":"maturity-onset-diabetes-of-the-young","IsDeleted":false,"Disease_Name_Full__c":"Maturity-onset diabetes of the young","Xref_IDs__c":"609561005; C0342276; C114769; C562772; DOID:0050524; HP:0004904; MEDGEN:87433; MONDO:0018911; OMIMPS:125850; ORPHA:552","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0018911","Disease_Description__c":"MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.","GARD_Name__c":"Maturity-onset diabetes of the young","GARD_Synonym__c":"mason-type diabetes; maturity onset diabetes mellitus in young; maturity onset diabetes of the young; maturity-onset diabetes of the young (disease); mody; mody - maturity onset diabetes of young","Curated_Disease_Description_Source__c":"GARD:0003697","Curated_Disease_Description__c":"Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. The different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare. HNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas. GCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare. RCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:552","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018911","ORPHANET_ID__c":"ORPHA:552","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mody","Spanish_Description_Source__c":"ORPHA:552","Spanish_Description__c":"La diabetes tipo MODY (diabetes del adulto de inicio juvenil) es una forma familiar de diabetes, poco frecuente, clínica y genéticamente heterogénea. Se caracteriza por un inicio en la edad juvenil (por lo general de 10-45 años de edad), con mantenimiento de la producción endógena de insulina, falta de autoinmunidad dirigida contra las células beta pancreáticas, ausencia de obesidad y resistencia a insulina y manifestaciones extra pancreáticas en algunos subtipos.","Spanish_Disease_Name__c":"mody","Spanish_GARD_Synonym__c":"diabetes de la edad madura que se presenta en el joven; diabetes del adulto de inicio juvenil; diabetes del adulto joven","Category_Linearization__c":"ORPHA:97978","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":"Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar. These forms of diabetes typically begin before age 30, although they can occur later in life. In MODY, elevated blood glucose arises from reduced production of insulin, which is a hormone produced in the pancreas that helps regulate blood glucose levels. Specifically, insulin controls how much glucose (a type of sugar) is passed from the blood into cells, where it is used as an energy source. The different types of MODY are distinguished by their genetic causes. The most common types are HNF1A-MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK-MODY (MODY2), accounting for 30 to 50 percent of cases. Less frequent types include HNF4A-MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B-MODY or MODY5), which each account for 5 to 10 percent of cases. At least ten other types have been identified, and these are very rare. HNF1A-MODY and HNF4A-MODY have similar signs and symptoms that develop slowly over time. Early signs and symptoms in these types are caused by high blood glucose and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, weight loss, and recurrent skin infections. Over time uncontrolled high blood glucose can damage small blood vessels in the eyes and kidneys. Damage to the light-sensitive tissue at the back of the eye (the retina) causes a condition known as diabetic retinopathy that can lead to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) can lead to kidney failure and end-stage renal disease (ESRD). While these two types of MODY are very similar, certain features are particular to each type. For example, babies with HNF4A-MODY tend to weigh more than average or have abnormally low blood glucose at birth, even though other signs of the condition do not occur until childhood or young adulthood. People with HNF1A-MODY have a higher-than-average risk of developing noncancerous (benign) liver tumors known as hepatocellular adenomas. GCK-MODY is a very mild type of the condition. People with this type have slightly elevated blood glucose levels, particularly in the morning before eating (fasting blood glucose). However, affected individuals often have no symptoms related to the disorder, and diabetes-related complications are extremely rare. RCAD is associated with a combination of diabetes and kidney or urinary tract abnormalities (unrelated to the elevated blood glucose), most commonly fluid-filled sacs (cysts) in the kidneys. However, the signs and symptoms are variable, even within families, and not everyone with RCAD has both features. Affected individuals may have other features unrelated to diabetes, such as abnormalities of the pancreas or liver or a form of arthritis called gout.","Curated_Disease_Description_Source__c":"GARD:0003697","GARD_Synonym__c":"mason-type diabetes; maturity onset diabetes mellitus in young; maturity onset diabetes of the young; maturity-onset diabetes of the young (disease); mody; mody - maturity onset diabetes of young","Name":"Maturity-onset diabetes of the young","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"The National Center for Monogenic Diabetes at the University of Chicago","Website__c":"https://monogenicdiabetes.uchicago.edu/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:552"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:552"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:552"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342276"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003697","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK500456","Source__c":"Gene Review","Xref__c":"NBK500456"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342276","Source__c":"C0342276","Xref__c":"C0342276"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=609561005","Source__c":"C0342276; MONDO:0018911","Xref__c":"609561005"},{"URL__c":"https://www.orpha.net/en/disease/detail/552","Source__c":"C0342276; MONDO:0018911; ORPHA:552","Xref__c":"ORPHA:552"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C114769","Source__c":"C0342276; MONDO:0018911","Xref__c":"C114769"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87433","Source__c":"C0342276","Xref__c":"MEDGEN:87433"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562772","Source__c":"MONDO:0018911","Xref__c":"C562772"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050524","Source__c":"MONDO:0018911","Xref__c":"DOID:0050524"},{"URL__c":"https://medlineplus.gov/genetics/condition/maturity-onset-diabetes-of-the-young","Source__c":"GARD:0003697","Xref__c":"https://medlineplus.gov/genetics/condition/maturity-onset-diabetes-of-the-young"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018911","Source__c":"GARD:0003697","Xref__c":"MONDO:0018911"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS125850","Source__c":"MONDO:0018911","Xref__c":"OMIMPS:125850"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004904","Source__c":"C0342276","Xref__c":"HP:0004904"},{"URL__c":"https://www.niddk.nih.gov/health-information/diabetes/overview/what-is-diabetes/monogenic-neonatal-mellitus-mody","Source__c":"G20W-6178_UAT_NTBTmatch-Name"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KLF11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GCK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gck","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NEUROD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BLK","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAX4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PDX1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CEL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HNF1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hnf1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"APPL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"INS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ins","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABCC8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcc8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNJ11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnj11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HNF4A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hnf4a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000825","HPO_Synonym__c":"Hyperinsulinaemic hypoglycaemia; Hyperinsulinemia hypoglycemia","HPO_Name__c":"Hyperinsulinemic hypoglycemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal concentration of insulin in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040214","HPO_Synonym__c":"Abnormal insulin level","HPO_Name__c":"Abnormal circulating insulin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomalous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030794","HPO_Synonym__c":"Abnormal C peptide level; Abnormal C-peptide level","HPO_Name__c":"Abnormal circulating C-peptide concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; High blood sugar","HPO_Name__c":"Hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040216","HPO_Name__c":"Hypoinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001738","HPO_Synonym__c":"Inability to properly digest food due to lack of pancreatic digestive enzymes","HPO_Name__c":"Exocrine pancreatic insufficiency","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040217","HPO_Synonym__c":"Elevated glycated hemoglobin; Elevated glycosylated hemoglobin; Elevated HbA1c; Increased HbA1c levels","HPO_Name__c":"Elevated hemoglobin A1c","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","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:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000831","HPO_Synonym__c":"Insulin resistant diabetes; Insulin resistant diabetes mellitus; Insulin-resistant diabetes","HPO_Name__c":"Insulin-resistant diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002594","HPO_Synonym__c":"Hypoplastic pancreas; Underdeveloped pancreas","HPO_Name__c":"Pancreatic hypoplasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Frequent (30-79%)","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 administration of glucose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004924","HPO_Synonym__c":"Abnormal glucose oral tolerance test","HPO_Name__c":"Abnormal oral glucose tolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001952","HPO_Synonym__c":"Glucose intolerance","HPO_Name__c":"Glucose intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A type of diabetic metabolic abnormality with an accumulation of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001953","HPO_Synonym__c":"Diabetic ketosis","HPO_Name__c":"Diabetic ketoacidosis","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:552","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:552","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:552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality of the genitourinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000119","HPO_Synonym__c":"Abnormality of the GU system; Genitourinary abnormality; Genitourinary tract anomalies; Genitourinary tract malformation; Urogenital abnormalities; Urogenital anomalies","HPO_Name__c":"Abnormality of the genitourinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A fluid filled sac in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000107","HPO_Synonym__c":"Kidney cyst","HPO_Name__c":"Renal cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008255","HPO_Name__c":"Transient neonatal diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001520","HPO_Synonym__c":"Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Macrosomia; Macrosomia, neonatal","HPO_Name__c":"Large for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001998","HPO_Synonym__c":"Low blood sugar in newborn","HPO_Name__c":"Neonatal hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:552","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased body weight with a body mass index of 25-29.9 kg per square meter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025502","HPO_Name__c":"Overweight","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["mason-type diabetes"," maturity onset diabetes mellitus in young"," maturity onset diabetes of the young"," maturity-onset diabetes of the young (disease)"," mody"," mody - maturity onset diabetes of young"]}