{
  "id": 10634,
  "label": "acrofrontofacionasal dysostosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009402",
  "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."
  },
  "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": 9988,
      "label": "acrofrontofacionasal dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18363
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008715"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 9988,
      "label": "acrofrontofacionasal dysostosis"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}