{
  "id": 18066,
  "label": "sirenomelia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017850",
  "properties": {
    "xrefs": [
      "GARD:0007652",
      "MEDGEN:52357",
      "MedDRA:10049216",
      "NCIT:C118455",
      "NORD:1720",
      "Orphanet:3169",
      "SCTID:67254002",
      "UMLS:C0037205",
      "icd11.foundation:473306797"
    ],
    "synonyms": [
      "symmelia",
      "Fused legs and feet",
      "Sirenomelus",
      "mermaid malformation",
      "mermaid syndrome",
      "sirenomelia sequence"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11967,
      "label": "familial caudal dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18636
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000215",
          "MEDGEN:418973",
          "NCIT:C99054",
          "OMIM:600145",
          "Orphanet:1768",
          "SCTID:722493007",
          "UMLS:C2931053"
        ],
        "synonyms": [
          "Rudd-Klimek syndrome",
          "caudal regression",
          "familial caudal dysgenesis",
          "SDAM",
          "Sdam",
          "caudal dysgenesis familial type",
          "caudal dysgenesis syndrome",
          "caudal regression syndrome",
          "sacral agenesis",
          "sacral defect with anterior meningocele",
          "sirenomelia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010831"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11967,
      "label": "familial caudal dysgenesis"
    }
  ]
}