{
  "id": 19032,
  "label": "Leydig cell hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019155",
  "properties": {
    "xrefs": [
      "DOID:0112259",
      "GARD:0003244",
      "MEDGEN:449533",
      "MESH:C562567",
      "MedDRA:10024406",
      "Orphanet:755",
      "UMLS:C0860158",
      "icd11.foundation:472787488"
    ],
    "synonyms": [
      "46,XY DSD due to LH resistance or LHB deficiency",
      "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency",
      "46,XY disorder of sex development due to LH resistance or LHB deficiency",
      "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency",
      "Male pseudohermaphroditism due to LH resistance or LHB deficiency",
      "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency",
      "46,XY disorder of sex development due to LH defects",
      "LH resistance due to LH receptor deactivation",
      "Leydig cell agenesis",
      "Male hypergonadotropic hypogonadism due to LHCGR defect"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    }
  ],
  "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": 10616,
      "label": "Leydig cell hypoplasia, type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19032
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024669",
          "MEDGEN:120576",
          "OMIM:238320",
          "UMLS:C0266432"
        ],
        "synonyms": [
          "LHCGR Leydig cell hypoplasia",
          "Leydig cell hypoplasia caused by mutation in LHCGR",
          "leydig cell hypoplasia with hypergonadotropic hypogonadism",
          "leydig cell hypoplasia with pseudohermaphroditism",
          "Leydig cell Hypoplasia, type 2",
          "Leydig cell agenesis",
          "Leydig cell hypoplasia with male pseudohermaphroditism",
          "Leydig cell hypoplasia, complete",
          "Leydig cell hypoplasia, partial",
          "Leydig cell hypoplasia, type I",
          "hypergonadotropic hypogonadism, Male, due to Lhcgr defect",
          "luteinizing hormone resistance, female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009384"
    }
  ],
  "roots": [
    {
      "id": 6875,
      "label": "endocrine system disorder"
    }
  ]
}