{
  "id": 9988,
  "label": "acrofrontofacionasal dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008715",
  "properties": {
    "xrefs": [
      "DOID:0060226",
      "GARD:0000484",
      "MEDGEN:349729",
      "Orphanet:1784",
      "SCTID:720408003",
      "UMLS:C1860118",
      "icd11.foundation:700995487"
    ],
    "synonyms": [
      "Richieri-Costa-Colletto syndrome",
      "Affn dysostosis 1",
      "acrofrontofacionasal dysostosis 1",
      "acrofrontofacionasal dysostosis type 1",
      "acro fronto facio nasal dysostosis",
      "acrofrontofacionasal dysostosis syndrome",
      "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly",
      "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate",
      "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 10634,
      "label": "acrofrontofacionasal dysostosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        9988,
        16089
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000287",
          "MEDGEN:383797",
          "MESH:C538332",
          "OMIM:239710",
          "Orphanet:2211",
          "SCTID:721835008",
          "UMLS:C1855904"
        ],
        "synonyms": [
          "Naguib-Richieri-Costa syndrome",
          "acrofrontofacionasal dysostosis 2",
          "acrofrontofacionasal dysostosis type 2",
          "acrofrontofacionasal syndrome type 2",
          "hypertelorism-hypospadias-polysyndactyly syndrome",
          "AFFN dysostosis 2",
          "Naguib syndrome",
          "acrofrontofacionasal dysostosis with genitourinary anomalies",
          "acrofrontofacionasal dysostosis, severe",
          "hypertelorism hypospadias polysyndactyly syndrome",
          "hypertelorism, hypospadias, and polysyndactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009402"
    },
    {
      "id": 23797,
      "label": "acrofrontofacionasal dysostosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9988
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026024",
          "MEDGEN:1632008",
          "MESH:C538186",
          "OMIM:201180",
          "UMLS:C4551987"
        ],
        "synonyms": [
          "AFFN dysostosis 1",
          "acrofrontofacionasal dysostosis 1",
          "acrofrontofacionasal dysostosis type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0100044"
    }
  ],
  "roots": [
    {
      "id": 18363,
      "label": "acrofacial dysostosis"
    }
  ]
}