{
  "id": 12536,
  "label": "MASS syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011431",
  "properties": {
    "xrefs": [
      "GARD:0008489",
      "MEDGEN:346932",
      "MESH:C536030",
      "OMIM:604308",
      "Orphanet:99715",
      "UMLS:C1858556"
    ],
    "synonyms": [
      "MASS phenotype",
      "MASS syndrome",
      "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings",
      "OCTD",
      "overlap connective tissue disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17132,
      "label": "overlapping connective tissue disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5762,
        8586
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020696",
          "MedDRA:10027754",
          "Orphanet:251312"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016663"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17132,
      "label": "overlapping connective tissue disease"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}