{
  "id": 14553,
  "label": "Nestor-Guillermo progeria syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013523",
  "properties": {
    "xrefs": [
      "DOID:0081334",
      "GARD:0011008",
      "MEDGEN:462796",
      "OMIM:614008",
      "Orphanet:280576",
      "UMLS:C3151446"
    ],
    "synonyms": [
      "BANF1-related neurodevelopmental syndrome",
      "NGPS",
      "Nestor-Guillermo progeria syndrome",
      "PSCOO",
      "progeria syndrome, childhood-onset, with osteolysis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life."
  },
  "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": 16199,
      "label": "progeroid syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19146,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081332",
          "GARD:0019906",
          "MEDGEN:1864204",
          "MESH:D011371",
          "NANDO:2100221",
          "OMIMPS:176670",
          "Orphanet:139033",
          "UMLS:C5848146",
          "icd11.foundation:926151882"
        ],
        "synonyms": [
          "progeria",
          "progeria or progeroid syndrome"
        ],
        "definition": "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are."
      },
      "child_count": 48,
      "reference_id": "MONDO:0015333"
    },
    {
      "id": 19478,
      "label": "primary osteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019204",
          "MEDGEN:1843089",
          "Orphanet:93449",
          "UMLS:C5559806",
          "icd11.foundation:285636466"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0019707"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16199,
      "label": "progeroid syndrome"
    },
    {
      "id": 19478,
      "label": "primary osteolysis"
    }
  ]
}