{
  "id": 13471,
  "label": "autosomal recessive nonsyndromic hearing loss 49",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012420",
  "properties": {
    "xrefs": [
      "DOID:0110506",
      "GARD:0022619",
      "MEDGEN:346670",
      "MESH:C565717",
      "NCIT:C129024",
      "OMIM:610153",
      "UMLS:C1857811"
    ],
    "synonyms": [
      "autosomal recessive nonsyndromic hearing loss 49",
      "DFNB49",
      "MARVELD2 autosomal recessive nonsyndromic deafness",
      "autosomal recessive deafness 49",
      "autosomal recessive nonsyndromic deafness 49",
      "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2",
      "autosomal recessive nonsyndromic deafness type 49",
      "deafness, autosomal recessive 49",
      "deafness, autosomal recessive type 49"
    ],
    "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 MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness."
  },
  "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"
    }
  ]
}