{
  "id": 16074,
  "label": "chronic primary adrenal insufficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015129",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 16073,
      "label": "primary adrenal insufficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2700
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019802",
          "MEDGEN:854614",
          "MedDRA:10052381",
          "NCIT:C113172",
          "Orphanet:101958",
          "UMLS:C3887896"
        ],
        "synonyms": [
          "Addison's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015128"
    }
  ],
  "children": [
    {
      "id": 8486,
      "label": "adrenocortical hypofunction, chronic primary congenital",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015033",
          "ICD9:255.41",
          "MEDGEN:78784",
          "MESH:C562711",
          "OMIM:103230",
          "SCTID:12427005",
          "UMLS:C0271740"
        ],
        "synonyms": [
          "adrenocortical hypofunction, chronic primary congenital",
          "Addison disease, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007071"
    },
    {
      "id": 10004,
      "label": "familial adrenal hypoplasia with absent pituitary luteinizing hormone",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16074,
        16526,
        19710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016839",
          "MEDGEN:348510",
          "MESH:C565976",
          "OMIM:202150",
          "Orphanet:95700",
          "UMLS:C1859978"
        ],
        "synonyms": [
          "familial adrenal hypoplasia with absent pituitary LH",
          "familial adrenal hypoplasia, miniature type",
          "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008731"
    },
    {
      "id": 10006,
      "label": "familial glucocorticoid deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080620",
          "GARD:0002498",
          "MEDGEN:885955",
          "MESH:C565974",
          "NCIT:C120446",
          "OMIMPS:202200",
          "Orphanet:361",
          "SCTID:765326001",
          "UMLS:C4054695",
          "icd11.foundation:861297039"
        ],
        "synonyms": [
          "glucocorticoid deficiency",
          "GCCD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency."
      },
      "child_count": 12,
      "reference_id": "MONDO:0008733"
    },
    {
      "id": 10519,
      "label": "triple-A syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050602",
          "GARD:0000457",
          "ICD9:255.41",
          "MEDGEN:82889",
          "MESH:C536008",
          "NANDO:1200410",
          "NCIT:C131005",
          "OMIM:231550",
          "Orphanet:869",
          "SCTID:45414006",
          "UMLS:C0271742"
        ],
        "synonyms": [
          "2A syndrome",
          "3A syndrome",
          "4A syndrome",
          "AAA syndrome",
          "Allgrove syndrome",
          "Double A syndrome",
          "achalasia-addisonianism-alacrima syndrome",
          "adrenal insufficiency-achalasia-alacrima syndrome",
          "quaternary A syndrome",
          "triple-a syndrome",
          "AAA",
          "AAAS",
          "ACTH-resistant adrenal insufficiency, achalasia and alacrima",
          "Addisonian achalasia syndrome",
          "Addisonian-achalasia syndrome",
          "achalasia addisonianism alacrimia syndrome",
          "achalasia alacrima syndrome",
          "achalasia-alacrima syndrome",
          "alacrima-achalasia-addisonianism",
          "alacrima-achalasia-adrenal insufficiency neurologic disorder",
          "glucocorticoid deficiency and achalasia",
          "hypoadrenalism with achalasia",
          "triple A syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009279"
    },
    {
      "id": 11438,
      "label": "X-linked adrenal hypoplasia congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        4427,
        16074,
        16526,
        16815
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080156",
          "GARD:0000555",
          "MEDGEN:87442",
          "NANDO:1200403",
          "NANDO:2200357",
          "NCIT:C123725",
          "OMIM:300200",
          "Orphanet:95702",
          "SCTID:93235007",
          "UMLS:C0342482"
        ],
        "synonyms": [
          "AHC",
          "adrenal hypoplasia congenita",
          "X-linked adrenal hypoplasia congenita",
          "X-linked congenital adrenal hypoplasia",
          "adrenal hypoplasia, congenital, X-linked recessive",
          "AHC with HHG",
          "AHC with isolated gonadotropin deficiency",
          "Addison disease, X-linked",
          "X-linked AHC",
          "adrenal hypoplasia, congenital",
          "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism",
          "adrenal hypoplasia, congenital, with precocious puberty",
          "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism",
          "cytomegalic adrenocortical hypoplasia",
          "cytomegalic congenital adrenal hypoplasia",
          "mineralocorticoid deficiency, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism."
      },
      "child_count": 5,
      "reference_id": "MONDO:0010264"
    },
    {
      "id": 17654,
      "label": "inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021143",
          "MEDGEN:1643960",
          "Orphanet:289548",
          "SCTID:764960005",
          "UMLS:C4707238"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017337"
    },
    {
      "id": 18518,
      "label": "congenital adrenal hyperplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7177,
        16074,
        16330,
        16604
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 32,
      "reference_id": "MONDO:0018479"
    },
    {
      "id": 24206,
      "label": "autoimmune primary adrenal insufficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005740",
          "MEDGEN:543526",
          "NCIT:C113814",
          "Orphanet:85138",
          "UMLS:C0271737",
          "icd11.foundation:1920929898"
        ],
        "synonyms": [
          "Addison disease",
          "Addison's disease",
          "autoimmune Addison disease",
          "autoimmune Addison's disease",
          "autoimmune adrenalitis",
          "classic Addison's disease",
          "primary Addison's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100480"
    }
  ],
  "roots": [
    {
      "id": 16073,
      "label": "primary adrenal insufficiency"
    }
  ]
}