{
  "id": 25067,
  "label": "SF3B4-related acrofacial dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800483",
  "properties": {
    "xrefs": [
      "GARD:0026574"
    ],
    "synonyms": [
      "SF3B4-related acrofacial dysostosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 18363,
      "label": "acrofacial dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060379",
          "GARD:0021574",
          "MEDGEN:272278",
          "NCIT:C35795",
          "Orphanet:364574",
          "UMLS:C1332140",
          "icd11.foundation:1702160042"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 42,
      "reference_id": "MONDO:0018237"
    }
  ],
  "children": [
    {
      "id": 9273,
      "label": "Nager acrofacial dysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        25067
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5768",
          "GARD:0000498",
          "MEDGEN:120519",
          "MESH:C538184",
          "NORD:1487",
          "OMIM:154400",
          "Orphanet:245",
          "SCTID:35520007",
          "UMLS:C0265245"
        ],
        "synonyms": [
          "NAFD",
          "Nager Syndrome",
          "Nager acrofacial dysostosis",
          "Nager acrofacial dysostosis syndrome",
          "Nager syndrome",
          "acrofacial dysostosis 1, Nager type",
          "mandibulofacial dysostosis with preaxial limb anomalies",
          "preaxial acrodysostosis",
          "AFD",
          "AFD, Nager type",
          "AFD1",
          "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies",
          "preaxial acrofacial dysostosis",
          "preaxial manibulofacial dysostosis",
          "split hand deformity-mandibulofacial dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007943"
    }
  ],
  "roots": [
    {
      "id": 18363,
      "label": "acrofacial dysostosis"
    }
  ]
}