{
  "id": 18648,
  "label": "tremor-ataxia-central hypomyelination syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018656",
  "properties": {
    "xrefs": [
      "GARD:0017774",
      "MEDGEN:1842823",
      "Orphanet:447896",
      "UMLS:C5680067"
    ],
    "synonyms": [
      "TACH syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6639,
      "label": "eye degenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9799",
          "ICD10CM:H44.5",
          "ICD9:360.2",
          "ICD9:360.20",
          "ICD9:360.29",
          "ICD9:360.4",
          "ICD9:360.40",
          "MEDGEN:509655",
          "SCTID:62585004",
          "UMLS:C0154777"
        ],
        "synonyms": [
          "degenerative disorder of eye",
          "eye neurodegenerative disease",
          "eyeball of camera-type eye neurodegenerative disease",
          "neurodegenerative disease of eyeball of camera-type eye",
          "degenerative disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A neurodegenerative disease that involves the eye."
      },
      "child_count": 9,
      "reference_id": "MONDO:0004884"
    },
    {
      "id": 12973,
      "label": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24671,
        24677
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060794",
          "GARD:0016948",
          "NANDO:1200585",
          "NANDO:2201297",
          "OMIM:607694",
          "SCTID:721846006"
        ],
        "synonyms": [
          "4H syndrome",
          "HLD7",
          "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism",
          "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism",
          "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism",
          "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
      },
      "child_count": 8,
      "reference_id": "MONDO:0011897"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050951",
          "EFO:0009671",
          "GARD:0020286",
          "ICD10CM:G11",
          "ICD10WHO:G11",
          "MEDGEN:2478",
          "MESH:C531684",
          "Orphanet:183518",
          "SCTID:763597000",
          "UMLS:C0004138",
          "icd11.foundation:442347652"
        ],
        "synonyms": [
          "rare hereditary ataxia",
          "SCA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6639,
      "label": "eye degenerative disorder"
    },
    {
      "id": 12973,
      "label": "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}