{
  "id": 18518,
  "label": "congenital adrenal hyperplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018479",
  "properties": {
    "xrefs": [
      "DOID:0050811",
      "GARD:0001467",
      "ICD9:255.2",
      "MEDGEN:7900",
      "MESH:D000312",
      "MedDRA:10010323",
      "NANDO:1200396",
      "NANDO:1200397",
      "NANDO:2100134",
      "NANDO:2200370",
      "NCIT:C34360",
      "NORD:992",
      "Orphanet:418",
      "SCTID:237751000",
      "UMLS:C0001627",
      "icd11.foundation:172733763"
    ],
    "synonyms": [
      "adrenal hyperplasia",
      "adrenogenital disorder",
      "adrenogenital syndrome",
      "CAH",
      "adrenal hyperplasia, congenital",
      "congenital adrenal gland hyperplasia",
      "congenital lipoid adrenal hyperplasia",
      "lipoid CAH"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 7177,
      "label": "steroid inherited metabolic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1701",
          "EFO:0005590",
          "GARD:0024202",
          "MEDGEN:219772",
          "MESH:D043202",
          "UMLS:C1257809"
        ],
        "definition": "Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero."
      },
      "child_count": 3,
      "reference_id": "MONDO:0005523"
    },
    {
      "id": 16074,
      "label": "chronic primary adrenal insufficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16073
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13774",
          "GARD:0019803",
          "ICD9:255.41",
          "MEDGEN:1324",
          "MESH:D000224",
          "MedDRA:10001130",
          "NANDO:1200411",
          "NANDO:2200359",
          "NANDO:2200360",
          "NCIT:C26689",
          "OMIM:240200",
          "Orphanet:101959",
          "SCTID:373662000",
          "UMLS:C0001403"
        ],
        "synonyms": [
          "CPAI",
          "chronic adrenocorticoid insufficiency",
          "hypoadrenocorticism, familial",
          "primary adrenal insufficiency, chronic",
          "primary hypoadrenalism",
          "Addison disease, chronic adrenal insufficiency",
          "adrenal aplasia",
          "adrenal gland hypofunction",
          "adrenal hypoplasia",
          "autoimmune Addison disease",
          "autoimmune adrenalitis",
          "autoimmune primary adrenal insufficiency",
          "classic Addison's disease",
          "hypoadrenocorticism familial",
          "primary Addison's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015129"
    },
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020012",
          "MEDGEN:1842942",
          "MESH:D006130",
          "Orphanet:156643",
          "UMLS:C5680637"
        ],
        "synonyms": [
          "genetic endocrine growth disease",
          "growth disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0015514"
    },
    {
      "id": 16604,
      "label": "adrenogenital syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7151,
        23508
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020226",
          "ICD9:255.2",
          "MEDGEN:86215",
          "MESH:D047808",
          "MedDRA:10061630",
          "Orphanet:181412",
          "SCTID:267395000",
          "UMLS:C0302280",
          "icd11.foundation:131153029"
        ],
        "synonyms": [
          "adrenogenital disorder",
          "adrenogenital syndrome",
          "androgenital syndrome",
          "congenital adrenal hyperplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015898"
    }
  ],
  "children": [
    {
      "id": 9998,
      "label": "congenital lipoid adrenal hyperplasia due to STAR deficency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18518,
        19578
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001465",
          "MEDGEN:83341",
          "OMIM:201710",
          "Orphanet:90790",
          "SCTID:44231009",
          "UMLS:C0342474"
        ],
        "synonyms": [
          "CLAH",
          "lipoid adrenal hyperplasia",
          "LCAH",
          "adrenal hyperplasia 1",
          "congenital adrenal hyperplasia lipoid",
          "lipoid congenital adrenal hyperplasia",
          "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008725"
    },
    {
      "id": 10000,
      "label": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6772,
        18518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009152",
          "MEDGEN:452446",
          "MESH:C538236",
          "NANDO:1200398",
          "NANDO:2200371",
          "NCIT:C131088",
          "OMIM:201810",
          "Orphanet:90791",
          "SCTID:54470008",
          "UMLS:C0342471",
          "icd11.foundation:929626064"
        ],
        "synonyms": [
          "3-beta HSD deficiency",
          "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency",
          "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF",
          "3-Beta-HSD deficiency",
          "3-Beta-hydroxysteroid dehydrogenase deficiency",
          "3b-hydroxysteroid dehydrogenase deficiency",
          "HSD3B deficiency",
          "adrenal hyperplasia 2",
          "adrenal hyperplasia II",
          "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency",
          "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency",
          "type II 3-beta-hydroxysteroid dehydrogenase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008727"
    },
    {
      "id": 10001,
      "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6772,
        18518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012665",
          "MEDGEN:903755",
          "MESH:C535979",
          "NANDO:1200399",
          "NANDO:2200374",
          "NCIT:C131087",
          "OMIM:201910",
          "Orphanet:90794",
          "SCTID:124221007",
          "SCTID:717261006",
          "UMLS:C4273964"
        ],
        "synonyms": [
          "21-OHD",
          "classic 21-OHD CAH",
          "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
          "21 hydroxylase deficiency",
          "21-hydroxylase deficiency",
          "CYP21 deficiency",
          "adrenal hyperplasia 3",
          "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency",
          "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency",
          "congenital adrenal hyperplasia 1",
          "congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
          "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008728"
    },
    {
      "id": 10002,
      "label": "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6772,
        18518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005658",
          "ICD9:277.6",
          "MEDGEN:82783",
          "MESH:C535978",
          "MedDRA:10000002",
          "NANDO:1200400",
          "NANDO:2200372",
          "NCIT:C131085",
          "OMIM:202010",
          "Orphanet:90795",
          "SCTID:124214007",
          "UMLS:C0268292",
          "icd11.foundation:791376680"
        ],
        "synonyms": [
          "CAH due to 11-beta-hydroxylase deficiency",
          "CYP11B1 deficiency",
          "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency",
          "11-Beta-Hydroxylase deficiency",
          "P450C11B1 deficiency",
          "adrenal hyperplasia 4",
          "adrenal hyperplasia IV",
          "adrenal hyperplasia hypertensive form",
          "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency",
          "adrenal hyperplasia, hypertensive form",
          "steroid 11-Beta-Hydroxylase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008729"
    },
    {
      "id": 10003,
      "label": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6772,
        18518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001469",
          "ICD9:277.6",
          "MEDGEN:82782",
          "NANDO:1200401",
          "NANDO:2200373",
          "OMIM:202110",
          "Orphanet:90793",
          "SCTID:124220008",
          "UMLS:C0268285",
          "icd11.foundation:587903316"
        ],
        "synonyms": [
          "17-alpha-hydroxylase/17,20-lyase deficiency",
          "CAH due to 17-alpha-hydroxylase deficiency",
          "combined 17-hydroxylase/17,20-lyase deficiency",
          "17,20-lyase deficiency, isolated",
          "17-Alpha-Hydroxylase deficiency",
          "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete",
          "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial",
          "adrenal hyperplasia 5",
          "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency",
          "congenital adrenal hyperplasia type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008730"
    },
    {
      "id": 14345,
      "label": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6772,
        18518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080925",
          "GARD:0012664",
          "MEDGEN:348008",
          "NANDO:1200402",
          "NANDO:2200375",
          "NCIT:C174439",
          "OMIM:613571",
          "Orphanet:95699",
          "SCTID:715733000",
          "UMLS:C1860042",
          "icd11.foundation:497412536"
        ],
        "synonyms": [
          "POR deficiency",
          "PORD",
          "congenital adrenal hyperplasia due to cytochrome POR deficiency",
          "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency",
          "disordered steroidogenesis due to POR deficiency",
          "disordered steroidogenesis due to cytochrome P450 oxidoreductase",
          "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013310"
    },
    {
      "id": 21246,
      "label": "non-classic congenital adrenal hyperplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025372",
          "MEDGEN:90982",
          "MESH:C537877",
          "NCIT:C131442",
          "UMLS:C0342467"
        ],
        "synonyms": [
          "late-onset congenital adrenal hyperplasia",
          "non-classic congenital adrenal hyperplasia",
          "LOCAH",
          "NCCAH",
          "attenuated congenital adrenal hyperplasia",
          "non classic congenital adrenal hyperplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0023601"
    },
    {
      "id": 23759,
      "label": "classic congenital adrenal hyperplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026012",
          "MEDGEN:1390311",
          "NCIT:C131423",
          "UMLS:C4329672"
        ],
        "synonyms": [
          "classic CAH",
          "classic congenital adrenal hyperplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0060783"
    }
  ],
  "roots": [
    {
      "id": 7177,
      "label": "steroid inherited metabolic disorder"
    },
    {
      "id": 16074,
      "label": "chronic primary adrenal insufficiency"
    },
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease"
    },
    {
      "id": 16604,
      "label": "adrenogenital syndrome"
    }
  ]
}