{
  "id": 24656,
  "label": "ADAR-related type 1 interferonopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700261",
  "properties": {
    "xrefs": [
      "GARD:0026404"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 24659,
      "label": "type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19503
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021957",
          "MEDGEN:1712223",
          "Orphanet:477647",
          "UMLS:C5394397"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700264"
    }
  ],
  "children": [
    {
      "id": 8870,
      "label": "dyschromatosis symmetrica hereditaria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2731,
        19140,
        24656
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060257",
          "GARD:0000334",
          "MEDGEN:96071",
          "MESH:C535729",
          "NCIT:C118435",
          "OMIM:127400",
          "Orphanet:41",
          "SCTID:239085000",
          "UMLS:C0406775"
        ],
        "synonyms": [
          "DSH1",
          "RAD",
          "acropigmentation of Dohi",
          "dyschromatosis symmetrica hereditaria",
          "reticulate acropigmentation of Dohi",
          "DSH",
          "dyschromatosis symmetrica hereditaria 1",
          "familial reticulate acropigmentation of Dohi",
          "symmetric dyschromatosis of the extremities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007483"
    },
    {
      "id": 15017,
      "label": "Aicardi-Goutieres syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24656
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015894",
          "MEDGEN:761287",
          "NANDO:2200898",
          "OMIM:615010",
          "UMLS:C3539013"
        ],
        "synonyms": [
          "ADAR Aicardi-Goutieres syndrome",
          "Adar Aicardi-Goutieres syndrome",
          "Aicardi-Goutieres syndrome 6",
          "Aicardi-Goutieres syndrome caused by mutation in ADAR",
          "Aicardi-Goutieres syndrome caused by mutation in Adar",
          "Aicardi-Goutieres syndrome type 6",
          "AGS6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014007"
    }
  ],
  "roots": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24659,
      "label": "type 1 interferonopathy"
    }
  ]
}