{
  "id": 18043,
  "label": "familial isolated pituitary adenoma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017824",
  "properties": {
    "xrefs": [
      "GARD:0010959",
      "MEDGEN:436629",
      "OMIMPS:102200",
      "Orphanet:314777",
      "SCTID:702375004",
      "UMLS:C2676191"
    ],
    "synonyms": [
      "FIPA"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 7896,
      "label": "pituitary gland adenoma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6714,
        17888
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3829",
          "EFO:1000478",
          "GARD:0019680",
          "ICDO:8272/0",
          "MEDGEN:45933",
          "MedDRA:10035079",
          "NANDO:2200095",
          "NCIT:C3329",
          "ONCOTREE:PTAD",
          "Orphanet:99408",
          "SCTID:254956000",
          "UMLS:C0032000"
        ],
        "synonyms": [
          "adenoma of pituitary",
          "adenoma of pituitary gland",
          "adenoma of the pituitary",
          "adenoma of the pituitary gland",
          "adenoma, anterior lobe pituitary gland, benign",
          "pituitary adenoma",
          "pituitary gland adenoma",
          "PTAD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss."
      },
      "child_count": 18,
      "reference_id": "MONDO:0006373"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 8471,
      "label": "growth hormone secreting pituitary adenoma 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7790,
        18043
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112009",
          "GARD:0024520",
          "MEDGEN:1618709",
          "OMIM:102200",
          "UMLS:C4538355"
        ],
        "synonyms": [
          "pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation",
          "pituitary adenoma predisposition, autosomal dominant, somatic mutation",
          "pituitary adenoma, growth hormone-secreting, type 1",
          "PAGH1",
          "PITA1",
          "Somatotrophinoma, familial",
          "acromegaly due to pituitary adenoma 1",
          "familial isolated pituitary adenoma syndrome",
          "isolated familial somatotropinoma",
          "pituitary adenoma 1, multiple types",
          "pituitary adenoma predisposition",
          "pituitary adenoma, familial isolated",
          "pituitary adenoma, growth hormone-secreting, 1",
          "somatotropinoma, familial isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "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:0007052"
    },
    {
      "id": 10301,
      "label": "Cushing disease due to pituitary adenoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5357,
        18043,
        19975,
        20437
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:7004",
          "GARD:0012867",
          "MEDGEN:66381",
          "MESH:D049913",
          "MedDRA:10035109",
          "NANDO:1200379",
          "NANDO:2200350",
          "NCIT:C113210",
          "OMIM:219090",
          "Orphanet:96253",
          "SCTID:254958004",
          "UMLS:C0221406",
          "icd11.foundation:380861892"
        ],
        "synonyms": [
          "ACTH producing pituitary adenoma",
          "Cushing disease",
          "Cushing disease, pituitary",
          "Cushing's disease",
          "PITA4",
          "corticotroph pituitary adenoma",
          "pituitary adenoma 4, ACTH-secreting",
          "pituitary adenoma 4, ACTH-secreting, somatic",
          "pituitary adenoma, ACTH-secreting",
          "pituitary corticotroph micro-adenoma",
          "pituitary dependent Cushing syndrome",
          "pituitary-dependent Cushing syndrome",
          "ACTH-secreting pituitary adenoma",
          "Corticotropinoma",
          "corticotroph adenoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009050"
    },
    {
      "id": 11650,
      "label": "pituitary adenoma, growth hormone-secreting, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18043
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112007",
          "GARD:0015274",
          "MEDGEN:860846",
          "OMIM:300943",
          "UMLS:C4012409"
        ],
        "synonyms": [
          "GPR101 pituitary gland adenoma",
          "pituitary adenoma 2, GH-secreting",
          "pituitary adenoma, Growth hormone-secreting, type 2",
          "pituitary adenoma, growth hormone-secreting, 2",
          "pituitary gland adenoma caused by mutation in GPR101",
          "PAGH2",
          "PITA2",
          "acromegaly due to pituitary adenoma 2",
          "acromegaly, X-linked",
          "pituitary adenoma 2, Growth hormone-secreting",
          "pituitary adenoma 2, growth hormone-secreting"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010492"
    },
    {
      "id": 12044,
      "label": "prolactin-producing pituitary gland adenoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5358,
        18043
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5394",
          "EFO:1000496",
          "GARD:0004508",
          "ICDO:8271/0",
          "MEDGEN:10936",
          "MESH:D015175",
          "MedDRA:10036832",
          "NANDO:1200378",
          "NCIT:C3342",
          "OMIM:600634",
          "Orphanet:2965",
          "SCTID:134209002",
          "UMLS:C0033375"
        ],
        "synonyms": [
          "PRL producing pituitary gland adenoma",
          "PRL-secreting pituitary adenoma",
          "PRLoma",
          "lactotrope adenoma",
          "lactotroph adenoma",
          "lactotroph cell adenoma",
          "pituitary gland prolactinoma",
          "pituitary lactotrophic adenoma",
          "pituitary prolactinoma",
          "prolactin producing adenoma of pituitary",
          "prolactin producing adenoma of pituitary gland",
          "prolactin producing adenoma of the pituitary",
          "prolactin producing adenoma of the pituitary gland",
          "prolactin producing pituitary adenoma",
          "prolactin producing pituitary gland adenoma",
          "prolactin secreting adenoma",
          "prolactin secreting adenoma of pituitary",
          "prolactin secreting adenoma of pituitary gland",
          "prolactin secreting adenoma of the pituitary",
          "prolactin secreting adenoma of the pituitary gland",
          "prolactin secreting pituitary adenoma",
          "prolactin secreting pituitary gland adenoma",
          "prolactin-producing pituitary gland adenoma",
          "prolactin-secreting pituitary adenoma",
          "prolactinoma",
          "prolactinoma of pituitary",
          "prolactinoma of pituitary gland",
          "prolactinoma of the pituitary",
          "prolactinoma of the pituitary gland",
          "Forbes-Albright syndrome (formerly)",
          "prolactinoma, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010911"
    },
    {
      "id": 23570,
      "label": "pituitary adenoma 5, multiple types",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18043
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112008",
          "GARD:0025954",
          "MEDGEN:1615593",
          "OMIM:617540",
          "UMLS:C4539685"
        ],
        "synonyms": [
          "pituitary adenoma 5, multiple types",
          "PITA5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "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:0054601"
    },
    {
      "id": 23576,
      "label": "pituitary adenoma 3, multiple types",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18043
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112010",
          "GARD:0025957",
          "MEDGEN:1620824",
          "OMIM:617686",
          "UMLS:C4540135"
        ],
        "synonyms": [
          "pituitary adenoma 3, multiple types",
          "pituitary adenoma 3, multiple types, somatic",
          "PITA3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "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:0054665"
    }
  ],
  "roots": [
    {
      "id": 7896,
      "label": "pituitary gland adenoma"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}