{
  "id": 10616,
  "label": "Leydig cell hypoplasia, type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009384",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    },
    {
      "id": 19032,
      "label": "Leydig cell hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019155"
    }
  ],
  "children": [
    {
      "id": 19650,
      "label": "Leydig cell hypoplasia due to complete LH resistance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10616
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112260",
          "GARD:0016851",
          "MEDGEN:1776152",
          "Orphanet:96265",
          "UMLS:C5438974"
        ],
        "synonyms": [
          "46,XY DSD due to complete LH receptor inactivation",
          "46,XY DSD due to complete LH resistance",
          "46,XY DSD due to complete luteinizing hormone receptor inactivation",
          "46,XY DSD due to complete luteinizing hormone resistance",
          "46,XY disorder of sex development due to complete LH receptor inactivation",
          "46,XY disorder of sex development due to complete LH resistance",
          "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation",
          "46,XY disorder of sex development due to complete luteinizing hormone resistance",
          "Leydig cell hypoplasia due to complete LH receptor inactivation",
          "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation",
          "Leydig cell hypoplasia due to complete luteinizing hormone resistance"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019930"
    },
    {
      "id": 19651,
      "label": "Leydig cell hypoplasia due to partial LH resistance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10616
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112261",
          "GARD:0016852",
          "MEDGEN:1739565",
          "Orphanet:96266",
          "UMLS:C5438975"
        ],
        "synonyms": [
          "46,XY DSD due to partial LH receptor inactivation",
          "46,XY DSD due to partial LH resistance",
          "46,XY DSD due to partial luteinizing hormone resistance",
          "Leydig cell hypoplasia due to partial LH receptor inactivation",
          "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation",
          "Leydig cell hypoplasia due to partial luteinizing hormone resistance"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019931"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19032,
      "label": "Leydig cell hypoplasia"
    }
  ]
}