{
  "id": 18346,
  "label": "hereditary sensory and autonomic neuropathy type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018213",
  "properties": {
    "xrefs": [
      "DOID:0070162",
      "GARD:0006635",
      "MEDGEN:5645",
      "NORD:1237",
      "Orphanet:36386",
      "PMID:18348718",
      "SCTID:397734008",
      "UMLS:C0020071",
      "icd11.foundation:1989773046"
    ],
    "synonyms": [
      "HSAN1",
      "Hereditary Sensory Neuropathy Type I",
      "hereditary sensory and autonomic neuropathy type I",
      "HSAN 1",
      "HSN1",
      "hereditary sensory neuropathy type 1",
      "neuropathy hereditary sensory and autonomic type 1",
      "neuropathy hereditary sensory radicular, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021516",
          "MEDGEN:1843236",
          "Orphanet:352301",
          "UMLS:C5680990"
        ]
      },
      "child_count": 17,
      "reference_id": "MONDO:0018117"
    }
  ],
  "children": [
    {
      "id": 9405,
      "label": "neuropathy, hereditary sensory and autonomic, type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18346
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070152",
          "GARD:0015095",
          "MEDGEN:1716450",
          "OMIM:162400",
          "UMLS:C5235211"
        ],
        "synonyms": [
          "HSAN1A",
          "SPTLC1 hereditary sensory and autonomic neuropathy type 1",
          "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1",
          "HSAN 1A",
          "HSN 1A",
          "hereditary sensory and autonomic neuropathy type 1A",
          "neuropathy, hereditary sensory and autonomic, type IA",
          "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A",
          "neuropathy, hereditary sensory, type 1A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008086"
    },
    {
      "id": 14372,
      "label": "neuropathy, hereditary sensory and autonomic, type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18346
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070157",
          "GARD:0015683",
          "MEDGEN:462246",
          "OMIM:613640",
          "UMLS:C3150896"
        ],
        "synonyms": [
          "HSAN1C",
          "HSAN 1C",
          "HSN 1C",
          "hereditary sensory and autonomic neuropathy type 1C",
          "neuropathy, hereditary sensory and autonomic, type IC",
          "neuropathy, hereditary sensory, type 1C"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013337"
    },
    {
      "id": 14414,
      "label": "neuropathy, hereditary sensory, type 1D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18346
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070156",
          "GARD:0015695",
          "MEDGEN:462322",
          "OMIM:613708",
          "UMLS:C3150972"
        ],
        "synonyms": [
          "HSN1D",
          "hereditary sensory neuropathy type 1D",
          "hereditary sensory neuropathy type ID",
          "neuropathy, hereditary sensory, type ID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013381"
    },
    {
      "id": 14612,
      "label": "hereditary sensory neuropathy-deafness-dementia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5338,
        16360,
        18346,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070158",
          "GARD:0011927",
          "MEDGEN:481515",
          "MESH:C580162",
          "NORD:1903",
          "OMIM:614116",
          "Orphanet:456318",
          "UMLS:C3279885"
        ],
        "synonyms": [
          "HSAN1E",
          "HSN1E",
          "Hereditary Sensory and Autonomic Neuropathy Type 1E",
          "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome",
          "DNMT1-related dementia, deafness, and sensory neuropathy",
          "HSN 1E",
          "HSNIE",
          "hereditary sensory and autonomic neuropathy type 1E",
          "hereditary sensory neuropathy type 1E",
          "hereditary sensory neuropathy with hearing loss and dementia",
          "neuropathy, hereditary sensory, type 1E",
          "neuropathy, hereditary sensory, type IE",
          "neuropathy, hereditary sensory, with hearing loss and dementia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013584"
    },
    {
      "id": 15290,
      "label": "neuropathy, hereditary sensory, type 1F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18346
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070154",
          "GARD:0015995",
          "MEDGEN:816524",
          "OMIM:615632",
          "UMLS:C3810194"
        ],
        "synonyms": [
          "ATL3 hereditary sensory and autonomic neuropathy type 1",
          "HSN1F",
          "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3",
          "neuropathy, hereditary sensory, type 1F",
          "HSN 1F",
          "hereditary sensory neuropathy type 1F",
          "neuropathy, hereditary sensory, type IF"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014286"
    },
    {
      "id": 23406,
      "label": "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18346,
        18718,
        19714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070148",
          "GARD:0016958",
          "GARD:0017937",
          "MEDGEN:330880",
          "MEDGEN:482853",
          "MESH:C564296",
          "OMIM:608088",
          "OMIM:614575",
          "Orphanet:139564",
          "Orphanet:504476",
          "SCTID:717825008",
          "UMLS:C1842586",
          "UMLS:C3281223"
        ],
        "synonyms": [
          "CABV syndrome",
          "CANVAS",
          "HSAN with cough and gastroesophageal reflux",
          "HSAN1B",
          "HSN1B",
          "cerebellar ataxia with bilateral vestibulopathy syndrome",
          "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",
          "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux",
          "hereditary sensory and autonomic neuropathy type 1B",
          "hereditary sensory and autonomic neuropathy type IB",
          "hereditary sensory neuropathy type IB",
          "neuropathy, hereditary sensory and autonomic, type 1B",
          "neuropathy, hereditary sensory, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044720"
    }
  ],
  "roots": [
    {
      "id": 16223,
      "label": "hereditary sensory and autonomic neuropathy"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    }
  ]
}