{
  "id": 20787,
  "label": "auditory neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021944",
  "properties": {
    "xrefs": [
      "GARD:0009274",
      "MEDGEN:338895",
      "MESH:C538268",
      "NCIT:C116364",
      "OMIMPS:609129",
      "SCTID:443805006",
      "UMLS:C1852271"
    ],
    "synonyms": [
      "ANSD",
      "auditory dys-synchrony",
      "auditory neuropathy",
      "auditory neuropathy spectrum disorder",
      "familial auditory neuropathy",
      "progressive auditory neuropathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002409",
        "name": "auditory system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 7048,
      "label": "hearing loss disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20788
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0004238",
          "ICD10CM:H90",
          "ICD9:389",
          "ICD9:389.8",
          "ICD9:389.9",
          "MEDGEN:235586",
          "MESH:D034381",
          "NCIT:C35731",
          "SCTID:15188001",
          "UMLS:C1384666"
        ],
        "synonyms": [
          "hearing loss",
          "hypoacuses",
          "hypoacusis",
          "loss of hearing",
          "loss, hearing",
          "deafness",
          "hearing impairment"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central."
      },
      "child_count": 11,
      "reference_id": "MONDO:0005365"
    },
    {
      "id": 22991,
      "label": "inherited auditory system disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4499,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:707712",
          "SCTID:362991006",
          "UMLS:C1285174"
        ],
        "synonyms": [
          "auditory system hereditary disorder",
          "hereditary auditory system disease",
          "inherited auditory system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          }
        ],
        "definition": "An instance of auditory system disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0037940"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "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": 12114,
      "label": "autosomal recessive nonsyndromic hearing loss 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19393,
        20787
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110535",
          "GARD:0022588",
          "MEDGEN:331376",
          "OMIM:601071",
          "UMLS:C1832828"
        ],
        "synonyms": [
          "autosomal recessive nonsyndromic hearing loss 9",
          "DFNB9",
          "NRSD9",
          "OTOF autosomal recessive nonsyndromic deafness",
          "auditory neuropathy, autosomal recessive, 1",
          "auditory neuropathy, nonsyndromic recessive",
          "autosomal recessive deafness 9",
          "autosomal recessive nonsyndromic deafness 9",
          "autosomal recessive nonsyndromic deafness caused by mutation in OTOF",
          "autosomal recessive nonsyndromic deafness type 9",
          "deafness, autosomal recessive 9",
          "deafness, autosomal recessive type 9",
          "neurosensory nonsyndromic recessive deafness 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010986"
    },
    {
      "id": 13258,
      "label": "autosomal dominant auditory neuropathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19392,
        20787
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060690",
          "GARD:0018127",
          "MEDGEN:322984",
          "MESH:C563790",
          "OMIM:609129",
          "UMLS:C1836743"
        ],
        "synonyms": [
          "AUNA1",
          "DIAPH3 auditory neuropathy",
          "NSDAN",
          "auditory neuropathy caused by mutation in DIAPH3",
          "auditory neuropathy, autosomal dominant, type 1",
          "autosomal dominant auditory neuropathy type 1",
          "auditory neuropathy, autosomal dominant, 1",
          "auditory neuropathy, nonsyndromic dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012196"
    },
    {
      "id": 25377,
      "label": "auditory neuropathy, autosomal dominant 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20787
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112373",
          "GARD:0026675",
          "MEDGEN:1805371",
          "OMIM:619832",
          "UMLS:C5676964"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859235"
    },
    {
      "id": 25642,
      "label": "auditory neuropathy, autosomal dominant 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20787
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026809",
          "MEDGEN:1841178",
          "OMIM:620384",
          "UMLS:C5830542"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957279"
    }
  ],
  "roots": [
    {
      "id": 7048,
      "label": "hearing loss disorder"
    },
    {
      "id": 22991,
      "label": "inherited auditory system disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}