{
  "id": 13013,
  "label": "Spondyloenchondrodysplasia with immune dysregulation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011939",
  "properties": {
    "xrefs": [
      "GARD:0004978",
      "ICD9:756.9",
      "ICD9:759.89",
      "MEDGEN:375009",
      "MESH:C535782",
      "MESH:C564307",
      "NANDO:2200744",
      "OMIM:271550",
      "OMIM:607944",
      "Orphanet:1855",
      "Orphanet:50816",
      "SCTID:254079002",
      "SCTID:703523004",
      "UMLS:C1842763"
    ],
    "synonyms": [
      "Roifman Immunoskeletal syndrome",
      "SPENCD",
      "SPENCDI",
      "Spondyloenchondrodysplasia with immune dysregulation",
      "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia",
      "spondyloenchondrodysplasia",
      "spondyloenchondrodysplasia with immune dysregulation",
      "spondyloenchondromatosis",
      "spondylometaphyseal dysplasia with combined immunodeficiency",
      "spondylometaphyseal dysplasia with enchondromatous changes",
      "SEM"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112295",
          "GARD:0018685",
          "MEDGEN:1674850",
          "OMIMPS:184255",
          "Orphanet:254",
          "UMLS:C4759767",
          "icd11.foundation:181781948"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life."
      },
      "child_count": 19,
      "reference_id": "MONDO:0016763"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 17208,
      "label": "spondylometaphyseal dysplasia"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}