{
  "id": 13409,
  "label": "autosomal recessive nonsyndromic hearing loss 28",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012355",
  "properties": {
    "xrefs": [
      "DOID:0110486",
      "GARD:0022617",
      "MEDGEN:342839",
      "MESH:C565218",
      "NCIT:C129023",
      "OMIM:609823",
      "UMLS:C1853276"
    ],
    "synonyms": [
      "autosomal recessive nonsyndromic hearing loss 28",
      "DFNB28",
      "TRIOBP autosomal recessive nonsyndromic deafness",
      "autosomal recessive deafness 28",
      "autosomal recessive nonsyndromic deafness 28",
      "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP",
      "autosomal recessive nonsyndromic deafness type 28",
      "deafness, autosomal recessive 28",
      "deafness, autosomal recessive type 28"
    ],
    "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 TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss."
  },
  "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"
    }
  ]
}