{
  "id": 13254,
  "label": "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012192",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "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": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 16920,
      "label": "neonatal diabetes mellitus"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}