{
  "id": 16250,
  "label": "craniofacial microsomia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015397",
  "properties": {
    "xrefs": [
      "DOID:2907",
      "GARD:0012074",
      "ICD9:759.89",
      "MEDGEN:75554",
      "MESH:D006053",
      "NCIT:C84740",
      "OMIMPS:164210",
      "Orphanet:141132",
      "Orphanet:141136",
      "Orphanet:374",
      "SCTID:109393007",
      "SCTID:367462009",
      "UMLS:C0265240"
    ],
    "synonyms": [
      "Expanded spectrum hemifacial microsomia",
      "Expanded spectrum of hemifacial microsomia",
      "Goldenhar disease",
      "Goldenhar syndrome",
      "HFM",
      "Laterofacial microsomia",
      "OAV dysplasia",
      "OAV spectrum",
      "OAVS",
      "facioauriculovertebral dysplasia",
      "first branchial arch syndrome",
      "hemifacial microsomia",
      "oculo-auriculo-vertebral spectrum",
      "oculoauriculovertebral dysplasia",
      "oculoauriculovertebral spectrum",
      "oculoauriculovertebral syndrome",
      "otomandibular syndrome",
      "unilateral or bilateral and asymmetric otomandibular dysplasia",
      "Fav sequence",
      "OAVD",
      "facioauriculovertebral sequence",
      "oculo-auriculo-vertebral dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 9066,
      "label": "oculoauriculovertebral spectrum with radial defects",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16089,
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003653",
          "MEDGEN:67392",
          "OMIM:141400",
          "Orphanet:2549",
          "SCTID:726722009",
          "UMLS:C0220681"
        ],
        "synonyms": [
          "Moeschler-Clarren syndrome",
          "hemifacial microsomia-radial defects syndrome",
          "Goldenhar syndrome with ipsilateral radial defect",
          "Moeschler Clarren syndrome",
          "Oavs with radial defect",
          "hemifacial microsomia with radial defects",
          "microsomia hemifacial radial defects",
          "oculoauriculovertebral spectrum with radial defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported."
      },
      "child_count": 3,
      "reference_id": "MONDO:0007712"
    },
    {
      "id": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    }
  ],
  "children": [
    {
      "id": 25849,
      "label": "craniofacial microsomia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16250
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026953",
          "MEDGEN:501171",
          "OMIM:164210",
          "UMLS:C3495417"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958175"
    },
    {
      "id": 25868,
      "label": "craniofacial microsomia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16250
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026968",
          "MEDGEN:1830923",
          "OMIM:620444",
          "UMLS:C5781610"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958194"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 9066,
      "label": "oculoauriculovertebral spectrum with radial defects"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    }
  ]
}