{
  "id": 16627,
  "label": "monogenic diabetes",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015967",
  "properties": {
    "xrefs": [
      "EFO:1001511",
      "MEDGEN:1392102",
      "NCIT:C129739",
      "Orphanet:183625",
      "UMLS:C3888631"
    ],
    "synonyms": [
      "monogenic diabetes",
      "rare genetic diabetes mellitus"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Diabetes mellitus that is caused by mutations in a single gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 6752,
      "label": "diabetes mellitus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4104,
        4915
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9351",
          "EFO:0000400",
          "HP:0000819",
          "ICD10CM:E08-E13",
          "ICD10WHO:E10-E14",
          "ICD9:250",
          "MEDGEN:8350",
          "MESH:D003920",
          "NANDO:2100157",
          "NANDO:2100158",
          "NCIT:C2985",
          "SCTID:73211009",
          "UMLS:C0011849",
          "icd11.foundation:465177735"
        ],
        "synonyms": [
          "DM",
          "diabetes",
          "diabetes mellitus",
          "diabetes mellitus (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization."
      },
      "child_count": 16,
      "reference_id": "MONDO:0005015"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    }
  ],
  "children": [
    {
      "id": 16920,
      "label": "neonatal diabetes mellitus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11717",
          "GARD:0018682",
          "ICD10CM:P70.2",
          "ICD9:775.1",
          "MEDGEN:57645",
          "MedDRA:10028933",
          "NANDO:2200463",
          "NCIT:C99248",
          "Orphanet:224",
          "SCTID:49817004",
          "UMLS:C0158981",
          "icd11.foundation:1217915084"
        ],
        "synonyms": [
          "NDM",
          "congenital diabetes mellitus",
          "diabetes mellitus syndrome in newborn infant"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016391"
    },
    {
      "id": 18838,
      "label": "maturity-onset diabetes of the young",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16627,
        17928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050524",
          "GARD:0003697",
          "HP:0004904",
          "MEDGEN:87433",
          "MESH:C562772",
          "NANDO:2200462",
          "NCIT:C114769",
          "OMIM:606391",
          "OMIMPS:125850",
          "Orphanet:552",
          "SCTID:609561005",
          "UMLS:C0342276"
        ],
        "synonyms": [
          "MODY",
          "maturity onset diabetes of the young",
          "maturity-onset diabetes of the young",
          "maturity-onset diabetes of the young (disease)",
          "Mason type diabetes"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "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."
      },
      "child_count": 30,
      "reference_id": "MONDO:0018911"
    }
  ],
  "roots": [
    {
      "id": 6752,
      "label": "diabetes mellitus"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    }
  ]
}