{"Name":"Neonatal diabetes mellitus","DiseaseID__c":"GARD:0018682","id":18682,"encodedName":"neonatal-diabetes-mellitus","IsDeleted":false,"Disease_Name_Full__c":"Neonatal diabetes mellitus","Xref_IDs__c":"49817004; C0158981; C99248; DOID:11717; MEDGEN:57645; MONDO:0016391; ORPHA:224; P70.2","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016391","Disease_Description__c":"Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.","GARD_Name__c":"Neonatal diabetes mellitus","GARD_Synonym__c":"congenital diabetes mellitus; diabetes mellitus syndrome in newborn infant; ndm","Curated_Disease_Description_Source__c":"MONDO:0016391","Curated_Disease_Description__c":"Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.","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:224","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016391","ORPHANET_ID__c":"ORPHA:224","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diabetes mellitus neonatal","Spanish_Description_Source__c":"ORPHA:224","Spanish_Description__c":"La diabetes mellitus neonatal se presenta como hiperglucemia, fallo de medro y, en algunos casos, deshidratación y cetoacidosis que pueden ser graves con coma, en un niño en los primeros meses de vida.","Spanish_Disease_Name__c":"diabetes mellitus neonatal","Spanish_GARD_Synonym__c":"diabetes de la infancia; diabetes mellitus congénita; diabetes monogénica de la infancia; ndm","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":"Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.","Curated_Disease_Description_Source__c":"MONDO:0016391","GARD_Synonym__c":"congenital diabetes mellitus; diabetes mellitus syndrome in newborn infant; ndm","Name":"Neonatal diabetes mellitus","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Infancy","Provided_By__c":"ORPHA:224"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:224"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49817004","Source__c":"C0158981; MONDO:0016391","Xref__c":"49817004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158981","Source__c":"C0158981","Xref__c":"C0158981"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99248","Source__c":"C0158981; MONDO:0016391","Xref__c":"C99248"},{"URL__c":"https://www.orpha.net/en/disease/detail/224","Source__c":"C0158981; MONDO:0016391; ORPHA:224","Xref__c":"ORPHA:224"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11717","Source__c":"MONDO:0016391","Xref__c":"DOID:11717"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57645","Source__c":"C0158981","Xref__c":"MEDGEN:57645"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/P70.2","Source__c":"MONDO:0016391","Xref__c":"P70.2"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016391","Source__c":"GARD:0018682","Xref__c":"MONDO:0016391"},{"URL__c":"https://www.niddk.nih.gov/health-information/diabetes/overview/what-is-diabetes/monogenic-neonatal-mellitus-mody"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["congenital diabetes mellitus"," diabetes mellitus syndrome in newborn infant"," ndm"]}