{
  "id": 11967,
  "label": "familial caudal dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010831",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18636,
      "label": "caudal regression-sirenomelia spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021862",
          "MEDGEN:1843168",
          "Orphanet:444941",
          "UMLS:C5681198"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018639"
    }
  ],
  "children": [
    {
      "id": 18066,
      "label": "sirenomelia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11967
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017850"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18636,
      "label": "caudal regression-sirenomelia spectrum"
    }
  ]
}