{
  "id": 13637,
  "label": "XFE progeroid syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012590",
  "properties": {
    "xrefs": [
      "DOID:0060590",
      "GARD:0027814",
      "MEDGEN:410064",
      "MESH:C567043",
      "NCIT:C173111",
      "OMIM:610965",
      "UMLS:C1970416"
    ],
    "synonyms": [
      "XFE progeroid syndrome",
      "XFEPS",
      "XPF-ERCC1 progeroid syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16199,
      "label": "progeroid syndrome"
    }
  ]
}