{
  "id": 11541,
  "label": "X-linked hereditary sensory and autonomic neuropathy with hearing loss",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010378",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16223,
      "label": "hereditary sensory and autonomic neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4428,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050548",
          "GARD:0012688",
          "ICD9:356.2",
          "MEDGEN:14355",
          "MESH:D009477",
          "NCIT:C125386",
          "OMIMPS:162400",
          "Orphanet:140471",
          "SCTID:11442006",
          "UMLS:C0027889",
          "icd11.foundation:1091217288"
        ],
        "synonyms": [
          "CIP",
          "HSAN",
          "congenital insensitivity to pain",
          "congenital pain insensitivity",
          "hereditary sensory and autonomic neuropathy",
          "hereditary sensory neuropathy",
          "hereditary sensory peripheral neuropathy",
          "indifference to pain, Congenital, autosomal recessive",
          "hereditary sensory autonomic neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015364"
    },
    {
      "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": 20787,
      "label": "auditory neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7048,
        22991,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 15,
      "reference_id": "MONDO:0021944"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16223,
      "label": "hereditary sensory and autonomic neuropathy"
    },
    {
      "id": 19391,
      "label": "X-linked nonsyndromic hearing loss"
    },
    {
      "id": 20787,
      "label": "auditory neuropathy"
    }
  ]
}