{
  "id": 18768,
  "label": "pseudo-TORCH syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018828",
  "properties": {
    "xrefs": [
      "GARD:0017875",
      "MEDGEN:1373355",
      "OMIM:617397",
      "Orphanet:481665",
      "UMLS:C4479376"
    ],
    "synonyms": [
      "pseudo-TORCH syndrome 2",
      "PTORCH2",
      "USP18 deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10846,
      "label": "pseudo-TORCH syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050656",
          "GARD:0012426",
          "MEDGEN:483678",
          "OMIMPS:251290",
          "Orphanet:1229",
          "SCTID:722390006",
          "UMLS:C3489725"
        ],
        "synonyms": [
          "BLC-PMG",
          "Baraitser-Brett-Piesowicz syndrome",
          "Baraitser-Reardon syndrome",
          "band-like calcification with simplified gyration and polymicrogyria",
          "bilateral band-like calcification with polymicrogyria",
          "microcephaly-intracranial calcification-intellectual disability syndrome",
          "pseudo-TORCH syndrome",
          "BLCPMG",
          "Baraitser Brett Piesowicz syndrome",
          "congenital intrauterine infection-like syndrome",
          "microcephaly - intracranial calcification - intellectual disability",
          "microcephaly intracranial calcification"
        ],
        "definition": "A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent."
      },
      "child_count": 3,
      "reference_id": "MONDO:0009626"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24659,
        25593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021986",
          "MEDGEN:1843010",
          "Orphanet:481671",
          "UMLS:C5681250"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A type 1 interferonopathy that occurs during childhood."
      },
      "child_count": 24,
      "reference_id": "MONDO:0957408"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10846,
      "label": "pseudo-TORCH syndrome"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}