{
  "id": 23740,
  "label": "tetraamelia syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0060732",
  "properties": {
    "xrefs": [
      "DOID:0112193",
      "GARD:0016286",
      "MEDGEN:1648284",
      "OMIM:618021",
      "UMLS:C4747923"
    ],
    "synonyms": [
      "tetraamelia syndrome 2",
      "TETAMS2",
      "tetraamelia syndrome 2 with pulmonary agenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11296,
      "label": "tetraamelia-multiple malformations syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16089,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112191",
          "GARD:0000386",
          "MEDGEN:419746",
          "MESH:C536500",
          "OMIMPS:273395",
          "Orphanet:3301",
          "SCTID:716249009",
          "UMLS:C2931218"
        ],
        "synonyms": [
          "Zimmer phocomelia",
          "TETAMS",
          "TETRAAMELIA syndrome, autosomal recessive",
          "Tetraamelia multiple malformations X-linked",
          "Zimmer Taub Sova syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent."
      },
      "child_count": 8,
      "reference_id": "MONDO:0010110"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11296,
      "label": "tetraamelia-multiple malformations syndrome"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}