{
  "id": 12347,
  "label": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011227",
  "properties": {
    "xrefs": [
      "GARD:0017633",
      "MEDGEN:355971",
      "MESH:C566544",
      "OMIM:602471",
      "Orphanet:397623",
      "SCTID:417081007",
      "UMLS:C1865361"
    ],
    "synonyms": [
      "SAMS syndrome",
      "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities",
      "SAMS",
      "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        21538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021935",
          "MEDGEN:1842579",
          "Orphanet:466084",
          "UMLS:C5681130"
        ],
        "synonyms": [
          "genetic otorhinolaryngologic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018751"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6893,
      "label": "skeletal system disorder"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease"
    }
  ]
}