{
  "id": 22129,
  "label": "proteasome-associated autoinflammatory syndrome 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030924",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10939,
      "label": "proteosome-associated autoinflammatory syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        7611,
        21247,
        25666
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0009726"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10939,
      "label": "proteosome-associated autoinflammatory syndrome"
    }
  ]
}