{
  "id": 26519,
  "label": "DHDDS-related syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1010097",
  "properties": {
    "synonyms": [
      "progressive myoclonus ataxia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any neurological disorder in which the cause of the disease is a mutation in the DHDDS gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 14499,
      "label": "retinitis pigmentosa 59",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19070,
        26519,
        29284
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110352",
          "GARD:0015724",
          "MEDGEN:462577",
          "OMIM:613861",
          "UMLS:C3151227"
        ],
        "synonyms": [
          "DHDDS retinitis pigmentosa",
          "RP59",
          "congenital disorder of glycosylation, type 1bb",
          "retinitis pigmentosa 59",
          "retinitis pigmentosa caused by mutation in DHDDS",
          "retinitis pigmentosa type 59",
          "congenital disorder of glycosylation, type Ibb"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013468"
    },
    {
      "id": 23329,
      "label": "developmental delay and seizures with or without movement abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24226,
        26519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080473",
          "GARD:0016261",
          "MEDGEN:1641343",
          "OMIM:617836",
          "UMLS:C4693376"
        ],
        "synonyms": [
          "developmental delay and seizures with or without movement abnormalities",
          "DEDSM"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044326"
    }
  ],
  "roots": [
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}