{ "id": 2997, "label": "autoimmune disorder of endocrine system", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0000569", "properties": { "xrefs": [ "DOID:0060005", "ICD9:279.49", "MEDGEN:575099", "SCTID:237822008", "UMLS:C0342552" ], "synonyms": [ "endocrine system autoimmune disease", "endocrine system hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the endocrine system." }, "isLeaf": false, "isRoot": false, "child_count": 13, "parents": [ { "id": 6875, "label": "endocrine system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:28", "EFO:0001379", "ICD9:259.8", "ICD9:259.9", "MEDGEN:4043", "MESH:D004700", "NANDO:1100009", "NANDO:2100109", "NCIT:C3009", "SCTID:362969004", "UMLS:C0014130" ], "synonyms": [ "disease of endocrine system", "disease or disorder of endocrine system", "disorder of endocrine system", "endocrine disease", "endocrine disorder", "endocrine system disease", "endocrine system disease or disorder", "endocrine system disorder", "endocrinopathy", "thyroid or other glandular disorders" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the endocrine system." }, "child_count": 48, "reference_id": "MONDO:0005151" }, { "id": 8586, "label": "autoimmune disease", "isLeaf": false, "isRoot": false, "parents": [ 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:417", "EFO:0005809", "ICD9:279.4", "ICD9:279.49", "ICD9:720", "MEDGEN:2135", "MESH:D001327", "NCIT:C2889", "OBI:1110054", "OMIM:109100", "SCTID:85828009", "UMLS:C0004364" ], "synonyms": [ "autoimmune disease", "autoimmune disease or disorder", "autoimmune disorder", "disease, autoimmune", "autoimmune hypersensitivity disease", "hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." }, "child_count": 47, "reference_id": "MONDO:0007179" } ], "children": [ { "id": 6871, "label": "type 1 diabetes mellitus", "isLeaf": false, "isRoot": false, "parents": [ 2997, 3004, 6752 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9744", "ICD10CM:E10", "ICD10WHO:E10", "MEDGEN:41522", "MESH:D003922", "NANDO:2200460", "NCIT:C2986", "OMIM:222100", "Orphanet:243377", "SCTID:46635009", "UMLS:C0011854", "icd11.foundation:1651053999" ], "synonyms": [ "IDDM", "T1D", "T1DM", "diabetes mellitis type 1", "diabetes mellitis type I", "immune mediated diabetes", "insulin dependent diabetes", "juvenile diabetes", "type 1 diabetes", "type I diabetes", "type I diabetes mellitus" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A chronic condition characterized by minimal or absent production of insulin by the pancreas." }, "child_count": 3, "reference_id": "MONDO:0005147" }, { "id": 7262, "label": "autoimmune thyroid disease", "isLeaf": false, "isRoot": false, "parents": [ 2997, 5955 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0006812", "MEDGEN:183088", "MESH:D013967", "UMLS:C0920350", "Wikipedia:Autoimmune_thyroiditis" ], "synonyms": [ "autoimmune thyroid gland inflammation", "autoimmune thyroiditides", "autoimmune thyroiditis", "lymphocytic thyroiditides", "lymphocytic thyroiditis", "lymphomatous thyroiditides", "lymphomatous thyroiditis", "thyroiditides, autoimmune", "thyroiditides, lymphocytic", "thyroiditides, lymphomatous", "thyroiditis, lymphocytic", "thyroiditis, lymphomatous" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis." }, "child_count": 10, "reference_id": "MONDO:0005623" }, { "id": 11734, "label": "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2997, 3018, 4370, 5714, 16071, 19530 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090110", "GARD:0001850", "ICD9:250.81", "MEDGEN:83339", "MESH:C580192", "NANDO:2200924", "NCIT:C131009", "OMIM:304790", "Orphanet:37042", "SCTID:237618001", "UMLS:C0342288", "icd11.foundation:1060287444" ], "synonyms": [ "DMSD", "IDDM-secretory diarrhea syndrome", "IDDM-secretory diarrhoea syndrome", "IPEX", "X linked polyendocrinopathy", "X-linked autoimmunity-allergic dysregulation syndrome", "XLAAD", "XPID", "autoimmune enteropathy type 1", "autoimmunity-immunodeficiency syndrome, X-linked", "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea", "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea", "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked", "immune dysfunction and diarrhea syndrome", "immune dysfunction and diarrhoea syndrome", "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome", "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked", "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive", "IDDM secretory diarrhea syndrome", "IDDM secretory diarrhoea syndrome", "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked", "IPEX syndrome", "Iddm-secretory diarrhea syndrome", "Iddm-secretory diarrhoea syndrome", "Immunodysregulation, polyendocrinopathy and enteropathy X-linked", "autoimmunity-immunodeficiency syndrome X-linked", "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy", "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy", "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly", "islets of Langerhans, absence of", "polyendocrinopathy, immune dysfunction and diarrhea X-linked", "polyendocrinopathy, immune dysfunction and diarrhoea X-linked", "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." }, "child_count": 0, "reference_id": "MONDO:0010580" }, { "id": 14625, "label": "autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2997, 16071, 16161, 19530 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111946", "GARD:0012314", "MEDGEN:481620", "OMIM:614162", "Orphanet:391487", "UMLS:C3279990" ], "synonyms": [ "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant", "immunodeficiency type 31C", "CANDF7", "IMD31C", "candidiasis familial chronic mucocutaneous, autosomal dominant", "candidiasis familial, 7", "candidiasis, familial chronic mucocutaneous, autosomal dominant", "candidiasis, familial, 7", "familial chronic mucocutaneous, autosomal dominant", "immunodeficiency 31C" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia." }, "child_count": 0, "reference_id": "MONDO:0013599" }, { "id": 16099, "label": "autoimmune pancreatitis", "isLeaf": false, "isRoot": false, "parents": [ 2997, 3004, 6723, 17611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0040091", "GARD:0010911", "MEDGEN:750633", "MESH:D000081012", "MedDRA:10069002", "NANDO:1200925", "NANDO:2200943", "Orphanet:103919", "SCTID:448542008", "UMLS:C2609129", "icd11.foundation:2057951941" ], "synonyms": [ "AIP", "lymphoplasmocytic sclerosing pancreatitis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." }, "child_count": 8, "reference_id": "MONDO:0015175" }, { "id": 16828, "label": "autoimmune hepatitis", "isLeaf": false, "isRoot": false, "parents": [ 2997, 3002, 3004, 4367 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2048", "EFO:0005676", "GARD:0005871", "ICD10CM:K75.4", "ICD9:571.42", "MEDGEN:1666753", "MESH:D019693", "MedDRA:10003827", "NANDO:1200441", "NANDO:1200442", "NANDO:2100264", "NCIT:C27029", "NORD:1897", "Orphanet:2137", "SCTID:408335007", "UMLS:C4721555", "icd11.foundation:1235727122" ], "synonyms": [ "autoimmune liver disease", "autoimmune hepatitis", "autoimmune chronic active hepatitis", "autoimmune hepatitis with centrilobular necrosis", "chronic autoimmune hepatitis", "AIH", "autoimmune chronic hepatitis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma." }, "child_count": 28, "reference_id": "MONDO:0016264" }, { "id": 17602, "label": "autoimmune polyendocrinopathy", "isLeaf": false, "isRoot": false, "parents": [ 2997, 4370, 16071 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14040", "GARD:0021116", "ICD10CM:E31.0", "ICD9:258.8", "MEDGEN:39042", "NANDO:2100125", "NCIT:C129726", "NCIT:C84576", "NORD:790", "Orphanet:282196", "SCTID:41864002", "UMLS:C0085409", "icd11.foundation:548357900" ], "synonyms": [ "APS", "Antiphospholipid Syndrome", "autoimmune polyendocrine syndrome", "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome", "autoimmune polyendocrinopathy", "autoimmune polyendocrinopathy syndrome", "autoimmune polyglandular failure", "autoimmune polyglandular syndrome", "autoimmune polyglandular syndrome(s)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues." }, "child_count": 12, "reference_id": "MONDO:0017278" }, { "id": 18365, "label": "autoimmune hypoparathyroidism", "isLeaf": false, "isRoot": false, "parents": [ 2997, 3460 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018824", "HP:0011771", "MEDGEN:488838", "Orphanet:36913", "SCTID:75316000", "UMLS:C0271865", "icd11.foundation:1790437089" ], "synonyms": [ "autoimmune hypoparathyroidism", "autoimmune hypoparathyroidism (disease)" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An autoimmune form of hypoparathyroidism." }, "child_count": 2, "reference_id": "MONDO:0018242" }, { "id": 18506, "label": "insulin autoimmune syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2997, 7419 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0040100", "GARD:0010808", "ICD9:279.49", "MEDGEN:678528", "Orphanet:411593", "SCTID:408539000", "UMLS:C0854359" ], "synonyms": [ "Hirata disease", "insulin autoimmune hypoglycemia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood." }, "child_count": 0, "reference_id": "MONDO:0018465" }, { "id": 18641, "label": "IgG4-related sclerosing cholangitis", "isLeaf": true, "isRoot": false, "parents": [ 2997, 3004, 17611, 18642 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021867", "MEDGEN:927778", "NANDO:1200928", "Orphanet:447764", "SCTID:722870008", "UMLS:C4302109", "icd11.foundation:1676971795" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018645" }, { "id": 19568, "label": "primary hypophysitis", "isLeaf": false, "isRoot": false, "parents": [ 2996, 2997, 19567, 20389 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019281", "ICD9:253.8", "ICD9:279.49", "MEDGEN:575013", "MESH:D000069281", "NCIT:C132055", "Orphanet:95506", "SCTID:237706000", "UMLS:C0342410" ], "synonyms": [ "autoimmune hypophysitis", "lymphocytic hypophysitis" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease)." }, "child_count": 12, "reference_id": "MONDO:0019835" }, { "id": 20790, "label": "autoimmune oophoritis", "isLeaf": true, "isRoot": false, "parents": [ 2997, 8316 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:163900", "MESH:C538274", "UMLS:C0878654" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions." }, "child_count": 0, "reference_id": "MONDO:0021950" }, { "id": 23340, "label": "autoimmune primary ovarian failure", "isLeaf": true, "isRoot": false, "parents": [ 2997, 7067 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:256.39", "ICD9:279.49", "MEDGEN:575071", "SCTID:237790001", "UMLS:C0342508" ], "synonyms": [ "primary ovarian failure arising through autoimmunity" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An autoimmune form of primary ovarian failure." }, "child_count": 0, "reference_id": "MONDO:0044338" } ], "roots": [ { "id": 6875, "label": "endocrine system disorder" }, { "id": 8586, "label": "autoimmune disease" } ] }