{
  "id": 18838,
  "label": "maturity-onset diabetes of the young",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018911",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 16627,
      "label": "monogenic diabetes",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6752,
        18954
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015967"
    },
    {
      "id": 17928,
      "label": "disorder of glycolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17229,
        19082,
        19115
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021306",
          "MEDGEN:1825948",
          "Orphanet:308459",
          "UMLS:C5681073"
        ]
      },
      "child_count": 48,
      "reference_id": "MONDO:0017688"
    }
  ],
  "children": [
    {
      "id": 8842,
      "label": "maturity-onset diabetes of the young type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111099",
          "GARD:0003418",
          "MEDGEN:377589",
          "MESH:C565101",
          "NANDO:2200461",
          "NANDO:2201069",
          "NCIT:C129744",
          "OMIM:125850",
          "SCTID:609562003",
          "UMLS:C1852093"
        ],
        "synonyms": [
          "HNF4A-associated monogenic diabetes",
          "MODY, type I",
          "MODY1",
          "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes",
          "maturity onset diabetes of the Young, type 1",
          "mild juvenile diabetes mellitus",
          "MODY HNF4A related",
          "MODY, type 1",
          "diabetes mellitus MODY type 1",
          "maturity-onset diabetes of the young, type 1",
          "type 1 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007452"
    },
    {
      "id": 8843,
      "label": "maturity-onset diabetes of the young type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111100",
          "GARD:0010657",
          "MEDGEN:87434",
          "NANDO:2201070",
          "NCIT:C129741",
          "OMIM:125851",
          "SCTID:237604008",
          "UMLS:C0342277"
        ],
        "synonyms": [
          "GCK maturity-onset diabetes of the young (disease)",
          "GCK-associated diabetes mellitus",
          "MODY 2 monogenic diabetes type 2",
          "MODY, type II",
          "MODY2",
          "glucokinase-associated diabetes mellitus",
          "maturity onset diabetes of the Young, type 2",
          "maturity-onset diabetes of the young (disease) caused by mutation in GCK",
          "MODY, glucokinase-related",
          "MODY, type 2",
          "diabetes mellitus MODY type 2",
          "maturity-onset diabetes of the young, type 2",
          "type 2 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007453"
    },
    {
      "id": 9027,
      "label": "renal cysts and diabetes syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:47",
          "DOID:0111101",
          "GARD:0010221",
          "MEDGEN:96569",
          "MESH:C535520",
          "NANDO:2201073",
          "NCIT:C123018",
          "OMIM:137920",
          "Orphanet:93111",
          "SCTID:446641003",
          "UMLS:C0431693"
        ],
        "synonyms": [
          "CAKUT with diabetes",
          "HNF1B-MODY",
          "HNF1B-related renal cysts and diabetes syndrome",
          "MODY5",
          "RCAD",
          "RCAD syndrome",
          "congenital anomalies of the kidney and urinary tract with diabetes",
          "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes",
          "maturity onset diabetes of the Young, type 5",
          "renal cysts and diabetes syndrome",
          "renal cysts-maturity-onset diabetes of the young syndrome",
          "renal dysfunction-early-onset diabetes syndrome",
          "FJHN atypical",
          "FJHN, atypical",
          "MODY type 5",
          "glomerulocystic kidney disease, hypoplastic type",
          "glomerulocystic kidney, familial hypoplastic",
          "hyperuricemic nephropathy, familial juvenile, atypical",
          "maturity-onset diabetes of the Young, type 5",
          "maturity-onset diabetes of the young type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007669"
    },
    {
      "id": 12027,
      "label": "maturity-onset diabetes of the young type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111102",
          "GARD:0010658",
          "MEDGEN:324942",
          "MESH:C563933",
          "NANDO:2201071",
          "NCIT:C129742",
          "OMIM:600496",
          "SCTID:609570008",
          "UMLS:C1838100"
        ],
        "synonyms": [
          "HNF1A maturity-onset diabetes of the young (disease)",
          "HNF1A-associated monogenic diabetes",
          "MODY type 3",
          "MODY, type III",
          "MODY3",
          "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes",
          "maturity-onset diabetes of the young (disease) caused by mutation in HNF1A",
          "maturity-onset diabetes of the young type 3",
          "MODY hepatocyte nuclear factor-1-alpha related",
          "MODY, type 3",
          "diabetes mellitus MODY type 3",
          "maturity-onset diabetes of the young, type 3",
          "type 3 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010894"
    },
    {
      "id": 12757,
      "label": "maturity-onset diabetes of the young type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111103",
          "GARD:0010659",
          "MEDGEN:318863",
          "MESH:C563451",
          "NANDO:2201072",
          "NCIT:C129746",
          "OMIM:606392",
          "SCTID:609571007",
          "UMLS:C1833382"
        ],
        "synonyms": [
          "MODY, type IV",
          "MODY4",
          "PDX1 maturity-onset diabetes of the young (disease)",
          "PDX1-associated monogenic diabetes",
          "maturity onset diabetes of the Young, type 4",
          "maturity-onset diabetes of the young (disease) caused by mutation in PDX1",
          "MODY insulin promoter factor-1 related",
          "MODY, type 4",
          "diabetes mellitus MODY type 4",
          "maturity-onset diabetes of the young, type 4",
          "type 4 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011667"
    },
    {
      "id": 12758,
      "label": "maturity-onset diabetes of the young type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111104",
          "GARD:0010660",
          "MEDGEN:344030",
          "MESH:C565231",
          "NCIT:C129745",
          "OMIM:606394",
          "SCTID:609573005",
          "UMLS:C1853371"
        ],
        "synonyms": [
          "MODY6",
          "NEUROD1 maturity-onset diabetes of the young (disease)",
          "NEUROD1-associated monogenic diabetes",
          "maturity onset diabetes of the Young, type 6",
          "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1",
          "maturity-onset diabetes of the young 6",
          "neurogenic differentiation Factor 1-associated monogenic diabetes",
          "MODY NEUROD1 related",
          "MODY, type 6",
          "diabetes mellitus MODY type 6",
          "maturity-onset diabetes of the young, type 6",
          "type 6 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011668"
    },
    {
      "id": 13402,
      "label": "maturity-onset diabetes of the young type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111105",
          "GARD:0010662",
          "MEDGEN:342845",
          "MESH:C565225",
          "OMIM:609812",
          "SCTID:609575003",
          "UMLS:C1853297"
        ],
        "synonyms": [
          "CEL maturity-onset diabetes of the young (disease)",
          "MODY8",
          "maturity-onset diabetes of the young (disease) caused by mutation in CEL",
          "maturity-onset diabetes of the young, type VIII",
          "DPED",
          "diabetes and pancreatic exocrine dysfunction",
          "diabetes mellitus MODY type 8",
          "diabetes-pancreatic exocrine dysfunction syndrome",
          "maturity-onset diabetes of the young, type 8",
          "maturity-onset diabetes of the young, type 8, with exocrine dysfunction",
          "type 8 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012348"
    },
    {
      "id": 13561,
      "label": "maturity-onset diabetes of the young type 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111106",
          "GARD:0010661",
          "MEDGEN:351232",
          "MESH:C566466",
          "OMIM:610508",
          "SCTID:609574004",
          "UMLS:C1864839"
        ],
        "synonyms": [
          "KLF11 maturity-onset diabetes of the young (disease)",
          "MODY7",
          "maturity-onset diabetes of the young (disease) caused by mutation in KLF11",
          "maturity-onset diabetes of the young, type VII",
          "MODY KLF11 related",
          "MODY type 7",
          "diabetes mellitus MODY type 7",
          "maturity-onset diabetes of the young, type 7",
          "type 7 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012513"
    },
    {
      "id": 13858,
      "label": "maturity-onset diabetes of the young type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111107",
          "GARD:0010663",
          "MEDGEN:383033",
          "MESH:C567393",
          "OMIM:612225",
          "SCTID:609576002",
          "UMLS:C2677132"
        ],
        "synonyms": [
          "MODY9",
          "PAX4 maturity-onset diabetes of the young (disease)",
          "maturity-onset diabetes of the young (disease) caused by mutation in PAX4",
          "maturity-onset diabetes of the young, type IX",
          "MODY PAX4 related",
          "MODY type 9",
          "diabetes mellitus MODY type 9",
          "maturity-onset diabetes of the young, type 9",
          "type 9 maturity-onset diabetes of the young"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012818"
    },
    {
      "id": 14276,
      "label": "maturity-onset diabetes of the young type 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111108",
          "GARD:0015652",
          "MEDGEN:461967",
          "OMIM:613370",
          "SCTID:609577006",
          "UMLS:C3150617"
        ],
        "synonyms": [
          "INS maturity-onset diabetes of the young (disease)",
          "MODY10",
          "maturity-onset diabetes of the young (disease) caused by mutation in INS",
          "maturity-onset diabetes of the young, type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013240"
    },
    {
      "id": 14278,
      "label": "maturity-onset diabetes of the young type 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111109",
          "GARD:0015653",
          "MEDGEN:461968",
          "OMIM:613375",
          "SCTID:609578001",
          "UMLS:C3150618"
        ],
        "synonyms": [
          "BLK maturity-onset diabetes of the young (disease)",
          "MODY11",
          "maturity-onset diabetes of the young (disease) caused by mutation in BLK",
          "maturity-onset diabetes of the young, type 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013242"
    },
    {
      "id": 15458,
      "label": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838,
        23978
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080760",
          "GARD:0016048",
          "MEDGEN:863399",
          "OMIM:616026",
          "UMLS:C4014962"
        ],
        "synonyms": [
          "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young",
          "Fanconi syndrome caused by mutation in HNF4A",
          "HNF4A Fanconi syndrome",
          "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young",
          "FRTS4",
          "FRTS4 with MODY"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014458"
    },
    {
      "id": 15587,
      "label": "maturity-onset diabetes of the young type 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111110",
          "GARD:0016090",
          "MEDGEN:897640",
          "OMIM:616329",
          "UMLS:C4225365"
        ],
        "synonyms": [
          "KCNJ11 maturity-onset diabetes of the young (disease)",
          "MODY13",
          "maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11",
          "MODY, type 13",
          "maturity-onset diabetes of the young, type 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014589"
    },
    {
      "id": 15669,
      "label": "maturity-onset diabetes of the young type 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111111",
          "GARD:0016128",
          "MEDGEN:908119",
          "OMIM:616511",
          "UMLS:C4225299"
        ],
        "synonyms": [
          "APPL1 maturity-onset diabetes of the young (disease)",
          "MODY14",
          "maturity-onset diabetes of the young (disease) caused by mutation in APPL1",
          "maturity-onset diabetes of the young, type 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014674"
    },
    {
      "id": 26226,
      "label": "maturity-onset diabetes of the young, type 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18838
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028104",
          "MEDGEN:1876495",
          "OMIM:621196",
          "UMLS:C6012723"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0978299"
    }
  ],
  "roots": [
    {
      "id": 16627,
      "label": "monogenic diabetes"
    },
    {
      "id": 17928,
      "label": "disorder of glycolysis"
    }
  ]
}