{
  "id": 11360,
  "label": "congenital bilateral aplasia of vas deferens from CFTR mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010178",
  "properties": {
    "xrefs": [
      "DOID:0111864",
      "GARD:0015243",
      "MEDGEN:98021",
      "NCIT:C129303",
      "OMIM:277180",
      "UMLS:C0403814"
    ],
    "synonyms": [
      "congenital bilateral absence of vas deferens",
      "congenital bilateral aplasia of the vas deferens",
      "vas deferens, congenital bilateral aplasia of",
      "CAVD",
      "CBAVD"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18748,
      "label": "congenital bilateral absence of vas deferens",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5121,
        5714,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111862",
          "GARD:0005461",
          "ICD9:752.89",
          "MEDGEN:400764",
          "MedDRA:10010670",
          "OMIMPS:277180",
          "Orphanet:48",
          "SCTID:275416002",
          "UMLS:C1865433"
        ],
        "synonyms": [
          "congenital bilateral agenesis of vas deferens",
          "congenital bilateral aplasia of vas deferens"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018801"
    },
    {
      "id": 29377,
      "label": "CFTR-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1854862",
          "UMLS:C5924204"
        ],
        "synonyms": [
          "CFTR-RD",
          "CFTR-related disease"
        ],
        "definition": "A disease associated with CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction that does not fulfill the diagnostic criteria for cystic fibrosis (CF). CFTR-related disorders are characterized by clinical evidence of CFTR dysfunction limited to a single organ system, a sweat chloride concentration below the CF diagnostic threshold (typically less than 60 mmol/L), and CFTR genotypes that often include at least one variant not classified as CF-causing. Recognized CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis."
      },
      "child_count": 1,
      "reference_id": "MONDO:7770004"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18748,
      "label": "congenital bilateral absence of vas deferens"
    },
    {
      "id": 29377,
      "label": "CFTR-related disorder"
    }
  ]
}