{
  "id": 18748,
  "label": "congenital bilateral absence of vas deferens",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018801",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5121,
      "label": "male reproductive system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:48",
          "EFO:0009555",
          "ICD10CM:N40-N53",
          "ICD10WHO:N40-N51",
          "ICD9:600-608",
          "ICD9:608.9",
          "MEDGEN:66734",
          "MESH:D005832",
          "NCIT:C27019",
          "SCTID:363194005",
          "UMLS:C0236099"
        ],
        "synonyms": [
          "Male reproductive system disease",
          "Male reproductive system disorder",
          "disease of male reproductive system",
          "disease or disorder of male reproductive system",
          "disorder of Male reproductive system",
          "disorder of male reproductive system",
          "male reproductive disease",
          "male reproductive system disease",
          "male reproductive system disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A disease involving the male reproductive system."
      },
      "child_count": 26,
      "reference_id": "MONDO:0003150"
    },
    {
      "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": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 11360,
      "label": "congenital bilateral aplasia of vas deferens from CFTR mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18748,
        29377
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010178"
    },
    {
      "id": 11669,
      "label": "vas deferens, congenital bilateral aplasia of, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111863",
          "GARD:0015279",
          "MEDGEN:934782",
          "OMIM:300985",
          "UMLS:C4310815"
        ],
        "synonyms": [
          "CBAVDX",
          "congenital bilateral absence of vas deferens, X-linked",
          "vas deferens, congenital bilateral aplasia of, X-linked",
          "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010511"
    },
    {
      "id": 24914,
      "label": "vas deferens, congenital unilateral aplasia of",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026494",
          "MEDGEN:1712847",
          "UMLS:C5393224"
        ],
        "synonyms": [
          "CUAVD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800311"
    }
  ],
  "roots": [
    {
      "id": 5121,
      "label": "male reproductive system disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}