{
  "id": 16506,
  "label": "male infertility due to globozoospermia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015746",
  "properties": {
    "xrefs": [
      "DOID:0112312",
      "GARD:0012502",
      "MEDGEN:1826006",
      "Orphanet:171709",
      "UMLS:C5679591"
    ],
    "synonyms": [
      "Male infertility due to round-headed spermatozoa",
      "male infertility due to globozoospermia",
      "male infertility due to round-headed spermatozoa",
      "round-headed sperm syndrome",
      "globozoospermia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      }
    ],
    "definition": "A male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida following intercourse or IVF thus fertilization fails. Fertilization efficiency is also very low following intracytoplasmic spem injection due to the absence of the oocyte activation factor protein PLCzeta."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18463,
      "label": "male infertility with teratozoospermia due to single gene mutation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7053
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017654",
          "MEDGEN:1643966",
          "Orphanet:399808",
          "SCTID:764096006",
          "UMLS:C4706677"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018394"
    }
  ],
  "children": [
    {
      "id": 8479,
      "label": "spermatogenic failure 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6724,
        16506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070167",
          "GARD:0015032",
          "MEDGEN:900925",
          "OMIM:102530",
          "SCTID:236818008",
          "UMLS:C4225503"
        ],
        "synonyms": [
          "SPATA16 azoospermia",
          "azoospermia caused by mutation in SPATA16",
          "spermatogenic failure 6",
          "spermatogenic failure type 6",
          "SPGF6",
          "acrosome malformation of spermatozoa",
          "globozoospermia",
          "round-headed spermatozoa",
          "spermatozoa, round-headed"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007060"
    },
    {
      "id": 14535,
      "label": "spermatogenic failure 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6724,
        16506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070175",
          "DOID:0111156",
          "GARD:0015735",
          "MEDGEN:462757",
          "OMIM:613958",
          "UMLS:C3151407"
        ],
        "synonyms": [
          "DPY19L2 azoospermia",
          "azoospermia caused by mutation in DPY19L2",
          "spermatogenic failure 9",
          "spermatogenic failure type 9",
          "SPGF9",
          "globozoospermia, complete",
          "globozoospermia, total"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013505"
    }
  ],
  "roots": [
    {
      "id": 18463,
      "label": "male infertility with teratozoospermia due to single gene mutation"
    }
  ]
}