{
  "id": 14892,
  "label": "facial paresis, hereditary congenital, 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013880",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 17904,
      "label": "congenital hereditary facial paralysis-variable hearing loss syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        21213
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017627"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 17904,
      "label": "congenital hereditary facial paralysis-variable hearing loss syndrome"
    }
  ]
}