{
  "id": 19315,
  "label": "nonsyndromic genetic hearing loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019497",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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": 16853,
      "label": "prelingual non-syndromic genetic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025069",
          "MEDGEN:1647959",
          "Orphanet:216445",
          "SCTID:764098007",
          "UMLS:C4706679"
        ],
        "synonyms": [
          "prelingual non-syndromic genetic hearing loss",
          "isolated prelingual genetic deafness",
          "prelingual non-syndromic genetic deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition."
      },
      "child_count": 1,
      "reference_id": "MONDO:0016297"
    },
    {
      "id": 16854,
      "label": "postlingual non-syndromic genetic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025070",
          "MEDGEN:1641874",
          "Orphanet:216452",
          "SCTID:764097002",
          "UMLS:C4706678"
        ],
        "synonyms": [
          "isolated postlingual genetic deafness",
          "postlingual non-syndromic genetic deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed."
      },
      "child_count": 1,
      "reference_id": "MONDO:0016298"
    },
    {
      "id": 19391,
      "label": "X-linked nonsyndromic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19315,
        20169
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019586"
    },
    {
      "id": 19392,
      "label": "autosomal dominant nonsyndromic hearing loss",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050564",
          "GARD:0016791",
          "MEDGEN:1843285",
          "OMIMPS:124900",
          "Orphanet:90635",
          "UMLS:C5779548"
        ],
        "synonyms": [
          "autosomal dominant deafness",
          "autosomal dominant isolated neurosensory hearing loss type DFNA",
          "autosomal dominant isolated sensorineural hearing loss type DFNA",
          "autosomal dominant non-syndromic neurosensory hearing loss type DFNA",
          "autosomal dominant non-syndromic sensorineural hearing loss type DFNA",
          "autosomal dominant nonsyndromic hearing impairment",
          "autosomal dominant nonsyndromic hearing loss",
          "autosomal dominant isolated deafness",
          "autosomal dominant isolated neurosensory deafness type DFNA",
          "autosomal dominant isolated sensorineural deafness type DFNA",
          "autosomal dominant non-syndromic neurosensory deafness type DFNA",
          "autosomal dominant non-syndromic sensorineural deafness type DFNA",
          "autosomal dominant nonsyndromic deafness",
          "autosomal dominant nonsyndromic genetic deafness",
          "autosomal dominant nonsyndromic hearing loss and deafness",
          "deafness, autosomal dominant",
          "nonsyndromic deafness, autosomal dominant",
          "nonsyndromic genetic deafness, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of nonsyndromic deafness."
      },
      "child_count": 150,
      "reference_id": "MONDO:0019587"
    },
    {
      "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"
    },
    {
      "id": 22635,
      "label": "nonsyndromic deafness, Y-linked",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2904,
        19315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111757",
          "GARD:0025791",
          "OMIMPS:400043"
        ],
        "categories": [
          {
            "ref": "MONDO:0002409",
            "name": "auditory system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0033304"
    }
  ],
  "roots": [
    {
      "id": 7048,
      "label": "hearing loss disorder"
    },
    {
      "id": 22991,
      "label": "inherited auditory system disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}