{
  "id": 10681,
  "label": "Vici syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009452",
  "properties": {
    "xrefs": [
      "DOID:0060356",
      "GARD:0000448",
      "MEDGEN:340962",
      "MESH:C535566",
      "NCIT:C138174",
      "OMIM:242840",
      "Orphanet:1493",
      "SCTID:719824001",
      "UMLS:C1855772"
    ],
    "synonyms": [
      "Dionisi-Vici-Sabetta-Gambarara syndrome",
      "Vici syndrome",
      "absent corpus callosum-cataract-immunodeficiency syndrome",
      "corpus callosum agenesis-cataract-immunodeficiency syndrome",
      "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum",
      "Dionisi Vici Sabetta Gambarara syndrome",
      "VICIS",
      "absent corpus callosum cataract immunodeficiency",
      "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum",
      "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6778,
      "label": "immune system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2914",
          "EFO:0000540",
          "ICD9:279",
          "ICD9:279.1",
          "ICD9:279.10",
          "ICD9:279.19",
          "ICD9:279.4",
          "ICD9:279.49",
          "ICD9:279.8",
          "ICD9:279.9",
          "MEDGEN:5759",
          "MESH:D007154",
          "NANDO:1100004",
          "NANDO:2100202",
          "NCIT:C3507",
          "SCTID:414029004",
          "UMLS:C0021053"
        ],
        "synonyms": [
          "disease of immune system",
          "disease or disorder of immune system",
          "disorder of immune system",
          "immune disease",
          "immune disorder",
          "immune dysfunction",
          "immune system disease or disorder",
          "immune system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A disorder resulting from an abnormality in the immune system."
      },
      "child_count": 47,
      "reference_id": "MONDO:0005046"
    },
    {
      "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": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6778,
      "label": "immune system disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}