{
  "id": 17904,
  "label": "congenital hereditary facial paralysis-variable hearing loss syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017627",
  "properties": {
    "xrefs": [
      "GARD:0017379",
      "MEDGEN:928261",
      "Orphanet:306530",
      "SCTID:722389002",
      "UMLS:C4302592"
    ],
    "synonyms": [
      "congenital hereditary facial palsy with variable deafness",
      "congenital hereditary facial palsy with variable hearing loss",
      "congenital hereditary facial paralysis with variable deafness",
      "congenital hereditary facial paralysis-variable deafness syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus."
  },
  "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": 21213,
      "label": "disorder of facial skeleton",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:712533",
          "UMLS:C1290148"
        ],
        "synonyms": [
          "disease of facial skeleton",
          "disease or disorder of facial skeleton",
          "disorder of facial skeleton",
          "facial skeleton disease",
          "facial skeleton disease or disorder",
          "maxillo-facial disease",
          "maxillofacial anomaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease that involves the facial skeleton."
      },
      "child_count": 20,
      "reference_id": "MONDO:0023369"
    }
  ],
  "children": [
    {
      "id": 12512,
      "label": "facial paresis, hereditary congenital, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018436",
          "MEDGEN:346971",
          "OMIM:604185",
          "UMLS:C1858717"
        ],
        "synonyms": [
          "facial paresis, hereditary congenital, 2",
          "HCFP2",
          "Mobius syndrome 3",
          "Mobius syndrome 3, formerly",
          "Moebius syndrome 3",
          "Moebius syndrome 3, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011407"
    },
    {
      "id": 14892,
      "label": "facial paresis, hereditary congenital, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        17904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018437",
          "MEDGEN:766539",
          "OMIM:614744",
          "UMLS:C3553625"
        ],
        "synonyms": [
          "HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome",
          "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1",
          "facial paresis, hereditary congenital, 3",
          "facial paresis, hereditary congenital, type 3",
          "HCFP3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013880"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 21213,
      "label": "disorder of facial skeleton"
    }
  ]
}