{"Name":"Autoimmune polyendocrinopathy type 3","DiseaseID__c":"GARD:0010980","id":10980,"encodedName":"autoimmune-polyendocrinopathy-type-3","IsDeleted":false,"Disease_Name_Full__c":"Autoimmune polyendocrinopathy type 3","Xref_IDs__c":"449731009; C1535942; MEDGEN:453060; MONDO:0016422; ORPHA:227982","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016422","Disease_Description__c":"A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.","GARD_Name__c":"Autoimmune polyendocrinopathy type 3","GARD_Synonym__c":"aps type 3; aps3; autoimmune polyendocrine syndrome type 3; autoimmune polyglandular syndrome type 3","Curated_Disease_Description_Source__c":"GARD:0010980","Curated_Disease_Description__c":"Autoimmune polyendocrinopathy type 3 (APS3) is an autoimmune condition in which your immune system attacks healthy cells and tissues by mistake. This condition is characterized by autoimmune thyroid disease plus another autoimmune disease such as type 1 diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, Sjogren's syndrome and many others. In APS3, Addison disease (the adrenal gland) is not involved.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:227982","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016422","ORPHANET_ID__c":"ORPHA:227982","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliendocrinopatía autoinmune tipo 3","Spanish_Description_Source__c":"ORPHA:227982","Spanish_Description__c":"Es una enfermedad endocrina poco frecuente, caracterizada por enfermedad tiroidea autoinmune asociada con, al menos, otra enfermedad autoinmune, tal como diabetes mellitus tipo I, gastritis crónica atrófica, anemia perniciosa, vitíligo, alopecia o miastenia gravis, con excepción de la enfermedad de Addison.","Spanish_Disease_Name__c":"poliendocrinopatía autoinmune tipo 3","Spanish_GARD_Synonym__c":"aps tipo 3; aps3; sap tipo 3","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Autoimmune polyendocrinopathy type 3 (APS3) is an autoimmune condition in which your immune system attacks healthy cells and tissues by mistake. This condition is characterized by autoimmune thyroid disease plus another autoimmune disease such as type 1 diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, Sjogren's syndrome and many others. In APS3, Addison disease (the adrenal gland) is not involved.","Curated_Disease_Description_Source__c":"GARD:0010980","GARD_Synonym__c":"aps type 3; aps3; autoimmune polyendocrine syndrome type 3; autoimmune polyglandular syndrome type 3","Name":"Autoimmune polyendocrinopathy type 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"American Thyroid Association","Website__c":"https://www.thyroid.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:227982"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=453060","Source__c":"C1535942","Xref__c":"MEDGEN:453060"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=449731009","Source__c":"C1535942; MONDO:0016422","Xref__c":"449731009"},{"URL__c":"https://www.orpha.net/en/disease/detail/227982","Source__c":"C1535942; MONDO:0016422; ORPHA:227982","Xref__c":"ORPHA:227982"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1535942","Source__c":"C1535942","Xref__c":"C1535942"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016422","Source__c":"GARD:0010980","Xref__c":"MONDO:0016422"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of circulating autoantibodies to phospholipids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003613","HPO_Synonym__c":"Antiphospholipid antibodies; Antiphospholipid antibody; Phospholipid antibody positivity","HPO_Name__c":"Antiphospholipid antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010451","HPO_Synonym__c":"Absent/small spleen; Absent/underdeveloped spleen","HPO_Name__c":"Aplasia/Hypoplasia of the spleen","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100647","HPO_Synonym__c":"Morbus Basedow","HPO_Name__c":"Graves disease","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001973","HPO_Synonym__c":"Idiopathic thrombocytopenia; Immune thrombocytopenia","HPO_Name__c":"Autoimmune thrombocytopenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010625","HPO_Synonym__c":"Adenohypophysis","HPO_Name__c":"Anterior pituitary dysgenesis","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012220","HPO_Name__c":"Non-caseating epithelioid cell granulomatosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001045","HPO_Synonym__c":"Blotchy loss of skin color","HPO_Name__c":"Vitiligo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002613","HPO_Name__c":"Biliary cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor originating from the epithelial cells of the thymus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100522","HPO_Name__c":"Thymoma","Feature_System__c":"Endocrine System; Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002608","HPO_Synonym__c":"Celiac disease; Celiac sprue","HPO_Name__c":"Celiac disease","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000863","HPO_Synonym__c":"Neurohypophyseal diabetes insipidus","HPO_Name__c":"Central diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002728","HPO_Synonym__c":"Chronic candidiasis of mucosa, skin and nails; Mucocutaneous candidiasis","HPO_Name__c":"Chronic mucocutaneous candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001972","HPO_Name__c":"Macrocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001970","HPO_Synonym__c":"Interstitial nephritis; Nephritis, Tubulointerstitial","HPO_Name__c":"Tubulointerstitial nephritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100651","HPO_Synonym__c":"Diabetes mellitus Type I; Juvenile diabetes mellitus; Type 1 diabetes; Type I diabetes","HPO_Name__c":"Type I diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic, autoimmune type of thyroiditis associated with hypothyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000872","HPO_Synonym__c":"Chronic lymphocytic thyroiditis; Hashimoto's thyroiditis","HPO_Name__c":"Hashimoto thyroiditis","Feature_System__c":"Endocrine System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008207","HPO_Synonym__c":"Adrenocortical insufficiency; Primary adrenocortical failure","HPO_Name__c":"Primary adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000815","HPO_Synonym__c":"Hypergonadotrophic hypogonadism; Primary hypogonadism","HPO_Name__c":"Hypergonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006530","HPO_Synonym__c":"Abnormal lung parenchyma morphology; Abnormality in area between air sacs in lung; Interstitial lung disease; Interstitial pulmonary disease","HPO_Name__c":"Abnormal pulmonary interstitial morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002582","HPO_Synonym__c":"Chronic atrophic gastritis","HPO_Name__c":"Atrophic gastritis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011771","HPO_Name__c":"Autoimmune hypoparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001370","HPO_Synonym__c":"RA; Rheumatoid arthritis","HPO_Name__c":"Rheumatoid arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:227982","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001094","HPO_Name__c":"Iridocyclitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["aps type 3"," aps3"," autoimmune polyendocrine syndrome type 3"," autoimmune polyglandular syndrome type 3"],"spanishId":13508,"spanishName":"sindrome-poliglandular-autoinmune-tipo-3"}