{
  "id": 16920,
  "label": "neonatal diabetes mellitus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016391",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    }
  ],
  "children": [
    {
      "id": 13254,
      "label": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16198,
        16920,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016670",
          "MEDGEN:332288",
          "MESH:C563796",
          "OMIM:609069",
          "Orphanet:65288",
          "UMLS:C1836780"
        ],
        "synonyms": [
          "pancreatic and cerebellar agenesis",
          "diabetes mellitus, permanent neonatal, with cerebellar agenesis",
          "paca"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012192"
    },
    {
      "id": 13486,
      "label": "neonatal diabetes mellitus with congenital hypothyroidism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060638",
          "GARD:0016699",
          "MEDGEN:347541",
          "MESH:C565705",
          "OMIM:610199",
          "Orphanet:79118",
          "UMLS:C1857775"
        ],
        "synonyms": [
          "NDH syndrome",
          "neonatal diabetes mellitus with congenital hypothyroidism",
          "NDH",
          "Ndh syndrome",
          "diabetes mellitus, neonatal, with congenital hypothyroidism",
          "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others"
      },
      "child_count": 0,
      "reference_id": "MONDO:0012436"
    },
    {
      "id": 19972,
      "label": "transient neonatal diabetes mellitus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16920
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060334",
          "GARD:0025170",
          "HP:0008255",
          "MEDGEN:449530",
          "NCIT:C114899",
          "SCTID:237603002",
          "UMLS:C0342273",
          "icd11.foundation:1596856936"
        ],
        "synonyms": [
          "TNDM",
          "transient neonatal diabetes mellitus",
          "transient neonatal diabetes mellitus (disease)",
          "chromosome 6-associated transient diabetes mellitus",
          "diabetes mellitus, 6q24-related transient neonatal",
          "diabetes mellitus, transient neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients."
      },
      "child_count": 3,
      "reference_id": "MONDO:0020525"
    },
    {
      "id": 23906,
      "label": "permanent neonatal diabetes mellitus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16920,
        17928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060639",
          "GARD:0010457",
          "MEDGEN:371484",
          "MESH:C563425",
          "NCIT:C114902",
          "OMIMPS:606176",
          "Orphanet:99885",
          "SCTID:609565001",
          "UMLS:C1833104",
          "icd11.foundation:33655955"
        ],
        "synonyms": [
          "PNDM",
          "monogenic diabetes of infancy",
          "developmental delay, epilepsy, and neonatal diabetes",
          "diabetes mellitus, permanent neonatal",
          "diabetes mellitus, permanent neonatal, with neurologic features",
          "diabetes mellitus, permanent, of infancy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment."
      },
      "child_count": 10,
      "reference_id": "MONDO:0100164"
    }
  ],
  "roots": [
    {
      "id": 16627,
      "label": "monogenic diabetes"
    }
  ]
}