{
  "id": 18463,
  "label": "male infertility with teratozoospermia due to single gene mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018394",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7053,
      "label": "male infertility",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5121,
        6779
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12336",
          "EFO:0004248",
          "ICD10CM:N46",
          "ICD10WHO:N46",
          "ICD9:606",
          "ICD9:606.9",
          "MEDGEN:5796",
          "MESH:D007248",
          "SCTID:2904007",
          "UMLS:C0021364",
          "icd11.foundation:753457327"
        ],
        "synonyms": [
          "infertility disorder of male reproductive system",
          "male reproductive system infertility",
          "male reproductive system infertility disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility."
      },
      "child_count": 16,
      "reference_id": "MONDO:0005372"
    }
  ],
  "children": [
    {
      "id": 10688,
      "label": "spermatogenic failure 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6724,
        18463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070183",
          "GARD:0012385",
          "MEDGEN:98020",
          "MESH:C562903",
          "OMIM:243060",
          "Orphanet:137893",
          "SCTID:236806004",
          "UMLS:C0403812"
        ],
        "synonyms": [
          "SPGF5",
          "macrocephalic sperm head syndrome",
          "macrozoospermia with multiflagellar polyploid spermatozoa",
          "male infertility due to large-headed multiflagellar polyploid spermatozoa",
          "male infertility due to macrozoospermia",
          "male infertility with large-headed, multiflagellar, polyploid spermatozoa",
          "spermatogenic failure 5",
          "spermatogenic failure type 5",
          "macrozoospermia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "A male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009461"
    },
    {
      "id": 15179,
      "label": "spermatogenic failure 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6724,
        18463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070171",
          "GARD:0015960",
          "MEDGEN:815757",
          "OMIM:615413",
          "UMLS:C3809427"
        ],
        "synonyms": [
          "NANOS1 azoospermia",
          "azoospermia caused by mutation in NANOS1",
          "spermatogenic failure 12",
          "spermatogenic failure type 12",
          "SPGF12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          }
        ],
        "definition": "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014172"
    },
    {
      "id": 16506,
      "label": "male infertility due to globozoospermia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18463
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015746"
    }
  ],
  "roots": [
    {
      "id": 7053,
      "label": "male infertility"
    }
  ]
}