{
  "id": 18569,
  "label": "hypogonadotropic hypogonadism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018555",
  "properties": {
    "xrefs": [
      "DOID:0090070",
      "DOID:7455",
      "GARD:0016533",
      "HP:0000044",
      "ICD9:253.4",
      "MEDGEN:82883",
      "NANDO:1200388",
      "NANDO:2100138",
      "NANDO:2200382",
      "NCIT:C113347",
      "OMIMPS:147950",
      "Orphanet:432",
      "SCTID:33927004",
      "UMLS:C0271623"
    ],
    "synonyms": [
      "Normosmic idiopathic hypogonadotropic hypogonadism",
      "central hypogonadism",
      "gonadotropic deficiency",
      "hypogonadism, hypogonadotropic",
      "hypogonadotropic hypogonadism",
      "hypogonadotropic hypogonadism with or without anosmia",
      "low gonadotropins (secondary hypogonadism)",
      "nIHH",
      "normosmic congenital hypogonadotropic hypogonadism",
      "secondary hypogonadism",
      "congenital idiopathic hypogonadotropic hypogonadism",
      "isolated congenital gonadotropin deficiency",
      "hypogonadotropism",
      "isolated hypogonadotropic hypogonadism"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 4278,
      "label": "hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4375
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1924",
          "ICD9:253.4",
          "MEDGEN:5711",
          "MESH:D007006",
          "NCIT:C9227",
          "SCTID:48130008",
          "UMLS:C0020619"
        ],
        "synonyms": [
          "gonadotropin deficiency",
          "hypogonadotropism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation."
      },
      "child_count": 6,
      "reference_id": "MONDO:0002146"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10466,
      "label": "hypogonadotropic hypogonadism 23 with or without anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569,
        19032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090091",
          "GARD:0010127",
          "ICD9:253.4",
          "MEDGEN:82881",
          "MESH:C537919",
          "OMIM:228300",
          "Orphanet:325448",
          "SCTID:8829008",
          "UMLS:C0271582"
        ],
        "synonyms": [
          "46,XY DSD due to LHB deficiency",
          "46,XY DSD due to luteinizing hormone subunit beta deficiency",
          "46,XY disorder of sex development due to LHB deficiency",
          "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency",
          "LHB hypogonadotropic hypogonadism",
          "Leydig cell hypoplasia due to LHB deficiency",
          "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency",
          "Pasqualini syndrome",
          "fertile eunuch syndrome",
          "hypogonadotropic hypogonadism caused by mutation in LHB",
          "HH23",
          "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)",
          "hypogonadotropic hypogonadism 23 without anosmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009223"
    },
    {
      "id": 10482,
      "label": "hypogonadotropic hypogonadism 24 without anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090088",
          "GARD:0010128",
          "MEDGEN:1806136",
          "MESH:C537070",
          "OMIM:229070",
          "Orphanet:52901",
          "SCTID:758664007",
          "UMLS:C5574957"
        ],
        "synonyms": [
          "FSHB hypogonadotropic hypogonadism",
          "hypogonadotropic hypogonadism 24 without anosmia",
          "hypogonadotropic hypogonadism caused by mutation in FSHB",
          "isolated FSH deficiency",
          "HH24",
          "follicle-stimulating hormone deficiency, isolated",
          "isolated follicle stimulating hormone deficiency",
          "isolated follicle-stimulating hormone (FSH) deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009239"
    },
    {
      "id": 14924,
      "label": "hypogonadotropic hypogonadism 10 with or without anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090089",
          "GARD:0018600",
          "MEDGEN:766757",
          "OMIM:614839",
          "UMLS:C3553843"
        ],
        "synonyms": [
          "TAC3 hypogonadotropic hypogonadism",
          "hypogonadotropic hypogonadism 10 with or without anosmia",
          "hypogonadotropic hypogonadism caused by mutation in TAC3",
          "HH10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013912"
    },
    {
      "id": 14926,
      "label": "hypogonadotropic hypogonadism 12 with or without anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090072",
          "GARD:0000276",
          "MEDGEN:347328",
          "MESH:C535764",
          "OMIM:227200",
          "OMIM:614841",
          "UMLS:C1856897"
        ],
        "synonyms": [
          "eunuchoidism, familial hypogonadotropic",
          "hypogonadotropic hypogonadism 12 with or without anosmia",
          "FIGD",
          "HH12",
          "eunuchoidism familial hypogonadotropic",
          "familial hypogonadotropic eunuchoidism",
          "gonadotropin deficiency familial idiopathic",
          "gonadotropin deficiency, familial idiopathic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013914"
    },
    {
      "id": 14927,
      "label": "hypogonadotropic hypogonadism 13 with or without anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090073",
          "GARD:0018601",
          "MEDGEN:762090",
          "OMIM:614842",
          "UMLS:C3541462"
        ],
        "synonyms": [
          "KISS1 hypogonadotropic hypogonadism",
          "hypogonadotropic hypogonadism 13 with or without anosmia",
          "hypogonadotropic hypogonadism caused by mutation in KISS1",
          "HH13"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013915"
    },
    {
      "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": 18747,
      "label": "Kallmann syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3614",
          "GARD:0010771",
          "ICD9:253.4",
          "MEDGEN:102469",
          "MESH:D017436",
          "MedDRA:10053142",
          "NANDO:2200381",
          "NCIT:C75479",
          "NORD:1319",
          "Orphanet:478",
          "SCTID:93559003",
          "UMLS:C0162809"
        ],
        "synonyms": [
          "Olfacto-genital pathological sequence",
          "congenital hypogonadotropic hypogonadism with anosmia",
          "hypogonadotropic hypogonadism with anosmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)."
      },
      "child_count": 36,
      "reference_id": "MONDO:0018800"
    },
    {
      "id": 21798,
      "label": "hypogonadotropic hypogonadism 25 with anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016387",
          "MEDGEN:1717461",
          "OMIM:618841",
          "UMLS:C5394246"
        ],
        "synonyms": [
          "HH25",
          "HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA",
          "hypogonadotropic hypogonadism 25 with anosmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030010"
    },
    {
      "id": 21973,
      "label": "hypogonadotropic hypogonadism 26 with or without anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025597",
          "MEDGEN:1811919",
          "OMIM:619718",
          "UMLS:C5676903"
        ],
        "synonyms": [
          "HH26"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030534"
    },
    {
      "id": 21999,
      "label": "hypogonadotropic hypogonadism 27 without anosmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025611",
          "MEDGEN:1810165",
          "OMIM:619755",
          "UMLS:C5676921"
        ],
        "synonyms": [
          "HH27",
          "hypogonadotropic hypogonadism 27 without anosmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030684"
    }
  ],
  "roots": [
    {
      "id": 4278,
      "label": "hypogonadism"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}