{
  "id": 24655,
  "label": "SAMHD1-related type 1 interferonopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700260",
  "properties": {
    "xrefs": [
      "GARD:0026403"
    ],
    "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 SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus."
  },
  "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": 14097,
      "label": "Aicardi-Goutieres syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18799,
        24655
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010151",
          "MEDGEN:413116",
          "MESH:C535608",
          "NANDO:2200897",
          "NCIT:C168564",
          "OMIM:612952",
          "UMLS:C2749659"
        ],
        "synonyms": [
          "Aicardi-Goutieres syndrome 5",
          "Aicardi-Goutieres syndrome caused by mutation in SAMHD1",
          "Aicardi-Goutieres syndrome type 5",
          "SAMHD1 Aicardi-Goutieres syndrome",
          "AGS5",
          "SAMHD1-related Aicardi-Goutieres syndrome"
        ],
        "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 SAMHD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013059"
    },
    {
      "id": 14758,
      "label": "chilblain lupus 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18767,
        24655
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018494",
          "MEDGEN:482351",
          "OMIM:614415",
          "UMLS:C3280721"
        ],
        "synonyms": [
          "Chilblain lupus type 2",
          "SAMHD1 chilblain lupus",
          "chilblain lupus 2",
          "chilblain lupus caused by mutation in SAMHD1",
          "CHBL2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013739"
    }
  ],
  "roots": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24659,
      "label": "type 1 interferonopathy"
    }
  ]
}