{
  "id": 10325,
  "label": "autosomal recessive nonsyndromic hearing loss 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009076",
  "properties": {
    "xrefs": [
      "DOID:0110475",
      "GARD:0001697",
      "MEDGEN:388720",
      "MESH:C567134",
      "NCIT:C129022",
      "OMIM:220290",
      "UMLS:C2673759"
    ],
    "synonyms": [
      "autosomal recessive nonsyndromic hearing loss 1A",
      "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant",
      "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant",
      "DFNB1",
      "DFNB1A",
      "GJB2-related deafness",
      "autosomal recessive deafness 1A",
      "autosomal recessive nonsyndromic deafness 1A",
      "autosomal recessive nonsyndromic deafness type 1A",
      "connexin 26 deafness",
      "deafness nonsyndromic, connexin 26 linked",
      "deafness, autosomal recessive 1A",
      "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant",
      "deafness, autosomal recessive type 1A",
      "deafness, digenic, GJB2/GJB3",
      "deafness, digenic, GJB2/GJB6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19393,
      "label": "hearing loss, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050565",
          "GARD:0018117",
          "MEDGEN:337623",
          "MESH:C564609",
          "OMIM:607197",
          "OMIMPS:220290",
          "Orphanet:90636",
          "UMLS:C1846647"
        ],
        "synonyms": [
          "hearing loss, autosomal recessive",
          "autosomal recessive isolated neurosensory deafness type DFNB",
          "autosomal recessive isolated sensorineural deafness type DFNB",
          "autosomal recessive non-syndromic neurosensory deafness type DFNB",
          "autosomal recessive non-syndromic sensorineural deafness type DFNB",
          "autosomal recessive nonsyndromic deafness",
          "autosomal recessive nonsyndromic genetic deafness",
          "deafness, autosomal recessive",
          "deafness, neurosensory nonsyndromic recessive, DFN",
          "nonsyndromic deafness, autosomal recessive",
          "nonsyndromic genetic deafness, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of nonsyndromic deafness."
      },
      "child_count": 204,
      "reference_id": "MONDO:0019588"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19393,
      "label": "hearing loss, autosomal recessive"
    }
  ]
}