{
  "id": 10197,
  "label": "cerebellar ataxia-hypogonadism syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008935",
  "properties": {
    "xrefs": [
      "DOID:0111587",
      "GARD:0003314",
      "MEDGEN:349137",
      "MESH:C565870",
      "OMIM:212840",
      "Orphanet:1173",
      "UMLS:C1859305"
    ],
    "synonyms": [
      "Gordon-Holmes syndrome",
      "luteinizing hormone-releasing hormone deficiency with ataxia",
      "GDHS",
      "Gordon Holmes syndrome",
      "LHRH deficiency and ataxia",
      "cerebellar ataxia - hypogonadism",
      "cerebellar ataxia and hypogonadotropic hypogonadism",
      "luteinizing hormone releasing hormone, deficiency of with ataxia",
      "luteinizing hormone-releasing hormone, deficiency of, with ataxia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18569,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020135",
          "MEDGEN:859097",
          "NANDO:1200383",
          "NCIT:C120162",
          "Orphanet:174590",
          "SCTID:722944006",
          "UMLS:C3899503",
          "icd11.foundation:1752075408"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."
      },
      "child_count": 50,
      "reference_id": "MONDO:0015770"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 12676,
      "label": "cerebellar ataxia and hypergonadotropic hypogonadism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10197
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015384",
          "MEDGEN:381328",
          "MESH:C565308",
          "OMIM:605672",
          "UMLS:C1854064"
        ],
        "synonyms": [
          "cerebellar ataxia and hypergonadotropic hypogonadism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011580"
    }
  ],
  "roots": [
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}