{
  "id": 23907,
  "label": "permanent neonatal diabetes mellitus 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100165",
  "properties": {
    "xrefs": [
      "GARD:0026070",
      "MEDGEN:1717586",
      "OMIM:606176",
      "UMLS:C5393570"
    ],
    "synonyms": [
      "PNDM1",
      "diabetes mellitus, permanent neonatal 1",
      "PDMI",
      "diabetes mellitus, permanent, of infancy"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 23906,
      "label": "permanent neonatal diabetes mellitus"
    }
  ]
}