{
  "id": 29372,
  "label": "SYCE1-related gametogenic failure",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060214",
  "properties": {
    "synonyms": [
      "SYCE1-related gametogenic failure"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "An infertility disorder caused by variation in the SYCE1 gene. Affected males may present with non-obstructive azoospermia due to maturation arrest or meiotic failure, while affected females may present with primary ovarian insufficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 15828,
      "label": "premature ovarian failure 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19578,
        29372
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025025",
          "MEDGEN:934749",
          "OMIM:616947",
          "UMLS:C4310782"
        ],
        "synonyms": [
          "POF12",
          "SYCE1 primary ovarian failure",
          "premature ovarian failure 12",
          "premature ovarian failure 12; POF12",
          "premature ovarian failure type 12",
          "primary ovarian failure caused by mutation in SYCE1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014844"
    },
    {
      "id": 15831,
      "label": "spermatogenic failure 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6724,
        29372
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070172",
          "GARD:0016173",
          "MEDGEN:934746",
          "OMIM:616950",
          "UMLS:C4310779"
        ],
        "synonyms": [
          "SPGF15",
          "SYCE1 azoospermia",
          "azoospermia caused by mutation in SYCE1",
          "spermatogenic failure 15",
          "spermatogenic failure 15; SPGF15",
          "spermatogenic failure type 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014847"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6779,
      "label": "infertility disorder"
    }
  ]
}