{
  "id": 11438,
  "label": "X-linked adrenal hypoplasia congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010264",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 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": 16815,
      "label": "alternating hemiplegia of childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3414,
        16794,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050635",
          "GARD:0000011",
          "MEDGEN:90925",
          "MESH:C536589",
          "NANDO:1200403",
          "NANDO:1200525",
          "NANDO:2100239",
          "NANDO:2200357",
          "NANDO:2200883",
          "NCIT:C35261",
          "NORD:758",
          "OMIMPS:104290",
          "Orphanet:2131",
          "SCTID:230466004",
          "UMLS:C0338488",
          "icd11.foundation:301329822"
        ],
        "synonyms": [
          "AHC",
          "adrenal hypoplasia congenita",
          "alternating hemiplegia of childhood",
          "childhood alternating hemiplegia",
          "congenital adrenal Hypoplasia",
          "congenital adrenal gland hypoplasia",
          "paediatric alternating hemiplegia",
          "pediatric alternating hemiplegia",
          "alternating hemiplegia",
          "alternating hemiplegia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016241"
    }
  ],
  "children": [
    {
      "id": 10005,
      "label": "adrenal hypoplasia, cytomegalic type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11438
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015131",
          "MEDGEN:348509",
          "OMIM:202155",
          "UMLS:C1859977"
        ],
        "synonyms": [
          "adrenal hypoplasia, cytomegalic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008732"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16074,
      "label": "chronic primary adrenal insufficiency"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism"
    },
    {
      "id": 16815,
      "label": "alternating hemiplegia of childhood"
    }
  ]
}