{
  "id": 14034,
  "label": "dopa-responsive dystonia due to sepiapterin reductase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012994",
  "properties": {
    "xrefs": [
      "DOID:0111168",
      "GARD:0010365",
      "ICD9:277.89",
      "MEDGEN:120642",
      "MESH:C562657",
      "NANDO:1200982",
      "NORD:1885",
      "OMIM:612716",
      "Orphanet:70594",
      "SCTID:45116002",
      "UMLS:C0268468"
    ],
    "synonyms": [
      "DRD due to SRD",
      "DYT-SPR",
      "SPR deficiency",
      "SRD",
      "Sepiapterin Reductase Deficiency",
      "autosomal recessive sepiapterin reductase-deficient DRD",
      "dopa-responsive dystonia due to sepiapterin reductase deficiency",
      "sepiapterin reductase deficiency",
      "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17241,
      "label": "dopa-responsive dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012144",
          "MESH:C538007",
          "NANDO:1200516",
          "NANDO:2200885",
          "NCIT:C116719",
          "Orphanet:255",
          "SCTID:230332007",
          "icd11.foundation:1534901505"
        ],
        "synonyms": [
          "DYT5 dystonia",
          "HPD with diurnal fluctuation",
          "Segawa's disease",
          "dopa-responsive dystonia",
          "hereditary progressive dystonia with diurnal fluctuation",
          "DYT-GCH1 (subtype)",
          "DYT-SPR (subtype)",
          "DYT-TH (subtype)",
          "DYT5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016812"
    },
    {
      "id": 23452,
      "label": "inherited dystonia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5367,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021630",
          "MEDGEN:1842468",
          "NANDO:1200511",
          "NCIT:C35527",
          "OMIMPS:128100",
          "Orphanet:391799",
          "UMLS:C5680022"
        ],
        "synonyms": [
          "familial dystonia",
          "hereditary dystonic disorder",
          "rare genetic dystonia",
          "rare genetic dystonic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of dystonic disorder that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 48,
      "reference_id": "MONDO:0044807"
    },
    {
      "id": 23510,
      "label": "tetrahydrobiopterin metabolic process disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17627
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025930",
          "MEDGEN:575174",
          "SCTID:237913008",
          "UMLS:C0342676"
        ],
        "synonyms": [
          "disorder of tetrahydrobiopterin metabolic process",
          "disorder of tetrahydrobiopterin metabolism",
          "tetrahydrobiopterin metabolism disease"
        ],
        "definition": "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process."
      },
      "child_count": 3,
      "reference_id": "MONDO:0045014"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17241,
      "label": "dopa-responsive dystonia"
    },
    {
      "id": 23452,
      "label": "inherited dystonia"
    },
    {
      "id": 23510,
      "label": "tetrahydrobiopterin metabolic process disease"
    }
  ]
}