{
  "id": 15846,
  "label": "hypermanganesemia with dystonia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014864",
  "properties": {
    "xrefs": [
      "DOID:0080537",
      "GARD:0017958",
      "MEDGEN:934732",
      "OMIM:617013",
      "Orphanet:521406",
      "SCTID:768554008",
      "UMLS:C4310765"
    ],
    "synonyms": [
      "HMNDYT2",
      "SLC39A14 hypermanganesemia with dystonia",
      "hypermanganesemia with dystonia 2",
      "hypermanganesemia with dystonia 2; HMNDYT2",
      "hypermanganesemia with dystonia caused by mutation in SLC39A14",
      "hypermanganesemia with dystonia type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2773,
      "label": "hypermanganesemia with dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080535",
          "GARD:0022727",
          "MEDGEN:1632594",
          "OMIMPS:613280",
          "SCTID:768553002",
          "UMLS:C4708509"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0000214"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 17991,
      "label": "disorder of manganese transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021358",
          "MEDGEN:1843191",
          "Orphanet:309851",
          "UMLS:C5681032"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017766"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2773,
      "label": "hypermanganesemia with dystonia"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17991,
      "label": "disorder of manganese transport"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}