{
  "id": 15758,
  "label": "inherited oocyte maturation defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014769",
  "properties": {
    "xrefs": [
      "OMIMPS:615774"
    ],
    "synonyms": [
      "oocyte maturation defect",
      "OOMD"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 24,
  "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": 6779,
      "label": "infertility disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6772
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5223",
          "EFO:0000545",
          "MEDGEN:43876",
          "MESH:D007246",
          "NCIT:C3836",
          "UMLS:C0021359"
        ],
        "synonyms": [
          "Sterile",
          "fertility disorders",
          "infertile",
          "sterile",
          "sterility",
          "infertility"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues."
      },
      "child_count": 5,
      "reference_id": "MONDO:0005047"
    }
  ],
  "children": [
    {
      "id": 15344,
      "label": "female infertility due to zona pellucida defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017675",
          "MEDGEN:862728",
          "OMIM:615774",
          "Orphanet:404466",
          "UMLS:C4014291"
        ],
        "synonyms": [
          "OOMD",
          "OOMD1",
          "oocyte maturation defect",
          "oocyte maturation defect 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014342"
    },
    {
      "id": 20221,
      "label": "oocyte maturation defect 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1644330",
          "OMIM:617996",
          "UMLS:C4693865"
        ],
        "synonyms": [
          "OOMD5",
          "oocyte maturation defect 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020837"
    },
    {
      "id": 20670,
      "label": "oocyte maturation defect 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018496",
          "MEDGEN:903836",
          "OMIM:616780",
          "UMLS:C4225210"
        ],
        "synonyms": [
          "OOMD2",
          "TUBB8 inherited oocyte maturation defect",
          "inherited oocyte maturation defect caused by mutation in TUBB8",
          "oocyte maturation defect 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021573"
    },
    {
      "id": 20671,
      "label": "oocyte maturation defect 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1617317",
          "OMIM:617712",
          "UMLS:C4540205"
        ],
        "synonyms": [
          "OOMD3",
          "oocyte maturation defect 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021574"
    },
    {
      "id": 20672,
      "label": "oocyte maturation defect 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018497",
          "MEDGEN:1616340",
          "OMIM:617743",
          "UMLS:C4540284"
        ],
        "synonyms": [
          "OOMD4",
          "oocyte maturation defect 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021575"
    },
    {
      "id": 21945,
      "label": "oocyte maturation defect 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1794243",
          "OMIM:619643",
          "UMLS:C5562033"
        ],
        "synonyms": [
          "OOMD11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030490"
    },
    {
      "id": 21965,
      "label": "oocyte maturation defect 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1794273",
          "OMIM:619697",
          "UMLS:C5562063"
        ],
        "synonyms": [
          "OOMD12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030523"
    },
    {
      "id": 22130,
      "label": "oocyte maturation defect 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018500",
          "MEDGEN:1766720",
          "OMIM:619176",
          "UMLS:C5436938"
        ],
        "synonyms": [
          "OOMD10",
          "oocyte maturation defect 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030925"
    },
    {
      "id": 22370,
      "label": "oocyte maturation defect 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1682649",
          "OMIM:618353",
          "UMLS:C5193047"
        ],
        "synonyms": [
          "OOCYTE MATURATION DEFECT 6",
          "OOMD6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032696"
    },
    {
      "id": 22467,
      "label": "oocyte maturation defect 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1684736",
          "OMIM:618550",
          "UMLS:C5231407"
        ],
        "synonyms": [
          "OOCYTE MATURATION DEFECT 7",
          "OOMD7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032810"
    },
    {
      "id": 22690,
      "label": "oocyte maturation defect 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018498",
          "MEDGEN:1776094",
          "OMIM:619009",
          "UMLS:C5436597"
        ],
        "synonyms": [
          "OOCYTE MATURATION DEFECT 8",
          "OOMD8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033564"
    },
    {
      "id": 22691,
      "label": "oocyte maturation defect 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018499",
          "MEDGEN:1724427",
          "OMIM:619011",
          "UMLS:C5436599"
        ],
        "synonyms": [
          "OOCYTE MATURATION DEFECT 9",
          "OOMD9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033565"
    },
    {
      "id": 25462,
      "label": "oocyte maturation defect 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1824041",
          "OMIM:620154",
          "UMLS:C5774268"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859330"
    },
    {
      "id": 25521,
      "label": "oocyte maturation defect 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1840962",
          "OMIM:620276",
          "UMLS:C5830326"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859521"
    },
    {
      "id": 25612,
      "label": "oocyte/zygote/embryo maturation arrest 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841054",
          "OMIM:620319",
          "UMLS:C5830418"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957220"
    },
    {
      "id": 25617,
      "label": "oocyte/zygote/embryo maturation arrest 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841077",
          "OMIM:620332",
          "UMLS:C5830441"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957230"
    },
    {
      "id": 25618,
      "label": "oocyte/zygote/embryo maturation arrest 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841078",
          "OMIM:620333",
          "UMLS:C5830442"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957231"
    },
    {
      "id": 25641,
      "label": "oocyte/zygote/embryo maturation arrest 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841175",
          "OMIM:620383",
          "UMLS:C5830539"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957278"
    },
    {
      "id": 25780,
      "label": "oocyte/zygote/embryo maturation arrest 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1845812",
          "OMIM:620610",
          "UMLS:C5882722"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957961"
    },
    {
      "id": 26193,
      "label": "oocyte/zygote/embryo maturation arrest 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1875156",
          "OMIM:621093",
          "UMLS:C5975626"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976137"
    },
    {
      "id": 26240,
      "label": "oocyte/zygote/embryo maturation arrest 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1876458",
          "OMIM:621231",
          "UMLS:C6012734"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979231"
    },
    {
      "id": 26241,
      "label": "oocyte/zygote/embryo maturation arrest 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1876453",
          "OMIM:621232",
          "UMLS:C6012735"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979232"
    },
    {
      "id": 26392,
      "label": "oocyte/zygote/embryo maturation arrest 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621471"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980964"
    },
    {
      "id": 26619,
      "label": "oocyte/zygote/embryo maturation arrest 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15758
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:617234"
        ],
        "synonyms": [
          "PADI6 preimplantation embryonic lethality",
          "PADI6-related oocyte/zygote/embryo maturation arrest 16 and maternal-effect disorder",
          "PREMBL2",
          "preimplantation embryonic lethality type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Any inherited oocyte maturation defect marked by early embryonic arrest and female infertility due to a varition in the PADI6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1010200"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6779,
      "label": "infertility disorder"
    }
  ]
}