{
  "id": 23906,
  "label": "permanent neonatal diabetes mellitus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100164",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "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": 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": 19076,
      "label": "DEND syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23906
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016701",
          "MEDGEN:929262",
          "NCIT:C131845",
          "Orphanet:79134",
          "SCTID:721088003",
          "UMLS:C4303593"
        ],
        "synonyms": [
          "K ATP associated developmental delay, epilepsy and neonatal diabetes",
          "developmental delay-epilepsy-neonatal diabetes syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019207"
    },
    {
      "id": 21851,
      "label": "diabetes mellitus, permanent neonatal 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23906
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016388",
          "MEDGEN:1713823",
          "OMIM:618856",
          "UMLS:C5394296"
        ],
        "synonyms": [
          "DIABETES MELLITUS, PERMANENT NEONATAL 2",
          "Developmental Delay, Epilepsy, and Neonatal Diabetes 1",
          "PNDM2",
          "diabetes mellitus, permanent neonatal 2",
          "diabetes, permanent neonatal 2, with or without neurologic features"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030087"
    },
    {
      "id": 21852,
      "label": "diabetes mellitus, permanent neonatal 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23906
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016389",
          "MEDGEN:1717271",
          "OMIM:618857",
          "UMLS:C5394303"
        ],
        "synonyms": [
          "DIABETES MELLITUS, PERMANENT NEONATAL 3",
          "Developmental Delay, Epilepsy, and Neonatal Diabetes 2",
          "PNDM3",
          "diabetes mellitus, permanent neonatal 3",
          "diabetes mellitus, permanent neonatal 3, with or without neurologic features"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030088"
    },
    {
      "id": 21853,
      "label": "diabetes mellitus, permanent neonatal 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23906
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016390",
          "MEDGEN:1711191",
          "OMIM:618858",
          "UMLS:C5394307"
        ],
        "synonyms": [
          "DIABETES MELLITUS, PERMANENT NEONATAL 4",
          "PNDM4",
          "diabetes mellitus, permanent neonatal 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030089"
    },
    {
      "id": 23907,
      "label": "permanent neonatal diabetes mellitus 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        23906
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100165"
    }
  ],
  "roots": [
    {
      "id": 16920,
      "label": "neonatal diabetes mellitus"
    },
    {
      "id": 17928,
      "label": "disorder of glycolysis"
    }
  ]
}