{
  "id": 10939,
  "label": "proteosome-associated autoinflammatory syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009726",
  "properties": {
    "xrefs": [
      "DOID:0050553",
      "DOID:0060913",
      "GARD:0013824",
      "ICD9:709.8",
      "MEDGEN:376827",
      "MESH:C538334",
      "NANDO:1200867",
      "NANDO:2200435",
      "OMIMPS:256040",
      "Orphanet:2615",
      "Orphanet:324977",
      "Orphanet:324999",
      "Orphanet:325004",
      "SCTID:702449004",
      "UMLS:C1850568"
    ],
    "synonyms": [
      "ALDD",
      "ALDD syndrome",
      "CANDLE syndrome",
      "JMP syndrome",
      "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy",
      "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy",
      "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome",
      "NNS",
      "Nakajo Nishimura syndrome",
      "Nakajo syndrome",
      "Nakajo-Nishimura syndrome",
      "PRAAS",
      "autoinflammation, lipodystrophy, and dermatosis syndrome",
      "autoinflammation-lipodystrophy-dermatosis syndrome",
      "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature",
      "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome",
      "proteasome disability syndrome",
      "proteasome-associated autoinflammatory syndrome",
      "secondary hypertrophic osteoperiostosis with pernio",
      "amyotrophy fat tissue anomaly",
      "amyotrophy-fat tissue anomaly syndrome",
      "nodular erythema digital changes"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "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": 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": [
    {
      "id": 22129,
      "label": "proteasome-associated autoinflammatory syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060919",
          "GARD:0018448",
          "MEDGEN:1779962",
          "OMIM:619175",
          "UMLS:C5543027"
        ],
        "synonyms": [
          "PRAAS5",
          "proteasome-associated autoinflammatory syndrome 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030924"
    },
    {
      "id": 22136,
      "label": "proteasome-associated autoinflammatory syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060915",
          "GARD:0018449",
          "MEDGEN:1780127",
          "OMIM:619183",
          "UMLS:C5543053"
        ],
        "synonyms": [
          "PRAAS4",
          "proteasome-associated autoinflammatory syndrome 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030931"
    },
    {
      "id": 23585,
      "label": "proteasome-associated autoinflammatory syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003916",
          "MEDGEN:1648310",
          "NCIT:C176619",
          "OMIM:256040",
          "UMLS:C4746851"
        ],
        "synonyms": [
          "PRAAS1",
          "proteasome-associated autoinflammatory syndrome 1",
          "proteasome-associated autoinflammatory syndrome 1 and digenic forms",
          "JMP syndrome",
          "Nakajo-Nishimura syndrome",
          "autoinflammation, lipodystrophy, and dermatosis syndrome",
          "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome",
          "joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy",
          "proteasome-associated autoinflammatory syndrome 1, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054698"
    },
    {
      "id": 23586,
      "label": "proteasome-associated autoinflammatory syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060916",
          "GARD:0018446",
          "MEDGEN:1648456",
          "OMIM:617591",
          "UMLS:C4747850"
        ],
        "synonyms": [
          "proteasome-associated autoinflammatory syndrome 3",
          "proteasome-associated autoinflammatory syndrome 3 and digenic forms",
          "PRAAS3",
          "proteasome-associated autoinflammatory syndrome 3, digenic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054699"
    },
    {
      "id": 23587,
      "label": "proteasome-associated autoinflammatory syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060914",
          "GARD:0018447",
          "MEDGEN:1648482",
          "OMIM:618048",
          "UMLS:C4747989"
        ],
        "synonyms": [
          "proteasome-associated autoinflammatory syndrome 2",
          "PRAAS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054700"
    },
    {
      "id": 25971,
      "label": "proteasome-associated autoinflammatory syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027081",
          "MEDGEN:1857440",
          "OMIM:620796",
          "UMLS:C5935614"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0968983"
    }
  ],
  "roots": [
    {
      "id": 6778,
      "label": "immune system disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}