{
  "id": 19391,
  "label": "X-linked nonsyndromic hearing loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019586",
  "properties": {
    "xrefs": [
      "DOID:0050566",
      "GARD:0016790",
      "MEDGEN:1825990",
      "Orphanet:90625",
      "UMLS:C5680192"
    ],
    "synonyms": [
      "X-linked isolated neurosensory hearing loss type DFN",
      "X-linked isolated sensorineural hearing loss type DFN",
      "X-linked non-syndromic neurosensory hearing loss type DFN",
      "X-linked non-syndromic sensorineural hearing loss type DFN",
      "X-linked deafness",
      "X-linked isolated neurosensory deafness type DFN",
      "X-linked isolated sensorineural deafness type DFN",
      "X-linked non-syndromic neurosensory deafness type DFN",
      "X-linked non-syndromic sensorineural deafness type DFN",
      "X-linked nonsyndromic deafness",
      "X-linked nonsyndromic genetic deafness",
      "nonsyndromic deafness, X-linked",
      "nonsyndromic genetic deafness, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked form of nonsyndromic deafness."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 19315,
      "label": "nonsyndromic genetic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7048,
        22991,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050563",
          "MEDGEN:1830101",
          "MESH:C580334",
          "Orphanet:87884",
          "UMLS:C5680182",
          "icd11.foundation:1154032108"
        ],
        "synonyms": [
          "nonsyndromic deafness",
          "nonsyndromic hearing loss",
          "nonsyndromic genetic hearing loss",
          "familial deafness",
          "isolated genetic deafness",
          "non-syndromic genetic deafness",
          "nonsyndromic genetic deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease characterized by hearing loss that is not part of a larger syndrome."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019497"
    },
    {
      "id": 20169,
      "label": "X-linked deafness",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        7048,
        22991,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIMPS:304500"
        ],
        "synonyms": [
          "DFNX",
          "X-linked deafness",
          "deafness, X-linked",
          "deafness, X-linked, DFN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0020768"
    }
  ],
  "children": [
    {
      "id": 11406,
      "label": "hearing loss, X-linked 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19391
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111736",
          "GARD:0018095",
          "MEDGEN:854758",
          "MESH:C564727",
          "OMIM:300030",
          "UMLS:C3888089"
        ],
        "synonyms": [
          "DFNX3",
          "deafness X-linked, DFN3",
          "deafness, X-linked 3",
          "deafness, X-linked 4, congenital sensorineural"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010228"
    },
    {
      "id": 11415,
      "label": "hearing loss, X-linked 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19391
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111735",
          "GARD:0018096",
          "MEDGEN:376307",
          "MESH:C564723",
          "OMIM:300066",
          "UMLS:C1848204"
        ],
        "synonyms": [
          "SMPX X-linked nonsyndromic deafness",
          "X-linked nonsyndromic deafness caused by mutation in SMPX",
          "deafness, X-linked 4",
          "deafness, X-linked 4, X-linked dominant",
          "deafness, X-linked type 4",
          "deafness, nonsyndromic sensorineural progressive 6",
          "DFNX4",
          "deafness, X-linked 6, progressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010238"
    },
    {
      "id": 11541,
      "label": "X-linked hereditary sensory and autonomic neuropathy with hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16223,
        19391,
        20787
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111741",
          "GARD:0012731",
          "MEDGEN:930069",
          "MESH:C564472",
          "OMIM:300614",
          "Orphanet:139583",
          "SCTID:719838008",
          "UMLS:C4304400"
        ],
        "synonyms": [
          "X-linked auditory neuropathy with peripheral sensory neuropathy type 1",
          "X-linked hereditary sensory and autonomic neuropathy with hearing loss",
          "X-linked HSAN with deafness",
          "X-linked hereditary sensory and autonomic neuropathy with deafness",
          "deafness, X-linked 5, X-linked recessive",
          "DFNX5",
          "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy",
          "deafness, X-linked 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010378"
    },
    {
      "id": 11642,
      "label": "hearing loss, X-linked 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19391
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111740",
          "GARD:0018097",
          "MEDGEN:813067",
          "OMIM:300914",
          "UMLS:C3806737"
        ],
        "synonyms": [
          "hearing loss, X-linked 6",
          "COL4A6 X-linked nonsyndromic deafness",
          "DFNX6",
          "X-linked nonsyndromic deafness caused by mutation in COL4A6",
          "deafness, X-linked 6",
          "deafness, X-linked 6, X-linked recessive",
          "deafness, X-linked type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010484"
    },
    {
      "id": 11730,
      "label": "X-linked mixed hearing loss with perilymphatic gusher",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4547,
        16853,
        18718,
        19391
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111737",
          "GARD:0004504",
          "ICD9:389.1",
          "ICD9:389.10",
          "ICD9:389.14",
          "MEDGEN:336750",
          "MedDRA:10040016",
          "OMIM:304400",
          "Orphanet:383",
          "UMLS:C1844678"
        ],
        "synonyms": [
          "central hearing loss",
          "high frequency deafness",
          "high frequency hearing loss",
          "high-frequency hearing loss",
          "perceptive deafness",
          "perceptive hearing loss",
          "perceptive hearing loss or deafness",
          "sensorineural deafness",
          "sensorineural hearing loss",
          "sensory hearing loss",
          "DFNX2",
          "X-linked mixed hearing loss with perilymphatic gusher",
          "Nance deafness",
          "X-linked deafness type 2",
          "X-linked mixed conductive and neurosensory deafness",
          "X-linked mixed conductive and sensorineural deafness",
          "X-linked mixed deafness with perilymphatic gusher",
          "conductive deafness with stapes fixation",
          "deafness mixed with perilymphatic gusher, X-linked",
          "deafness, X-linked 2, X-linked recessive",
          "deafness, X-linked type 2",
          "DFN 3 nonsyndromic hearing loss and deafness",
          "DFN3",
          "deafness 3 conductive with stapes fixation",
          "deafness 3, conductive, with stapes fixation",
          "deafness conductive with stapes fixation",
          "deafness mixed with perilymphatic gusher",
          "deafness, X-linked 2",
          "deafness, conductive, with stapes fixation",
          "deafness, mixed, with perilymphatic gusher",
          "gusher syndrome",
          "perilymphatic gusher-deafness syndrome",
          "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010576"
    },
    {
      "id": 11731,
      "label": "hearing loss, X-linked 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19391
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111739",
          "GARD:0018098",
          "MEDGEN:336749",
          "MESH:C564433",
          "OMIM:304500",
          "UMLS:C1844677"
        ],
        "synonyms": [
          "DFNX1",
          "deafness, X-linked 1",
          "deafness, X-linked 2, sensorineural congenital",
          "deafness, X-linked type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010577"
    }
  ],
  "roots": [
    {
      "id": 19315,
      "label": "nonsyndromic genetic hearing loss"
    },
    {
      "id": 20169,
      "label": "X-linked deafness"
    }
  ]
}