{"Name":"IgG4-related retroperitoneal fibrosis","DiseaseID__c":"GARD:0009568","id":9568,"encodedName":"igg4-related-retroperitoneal-fibrosis","IsDeleted":false,"Disease_Name_Full__c":"IgG4-related retroperitoneal fibrosis","Xref_IDs__c":"197808006; C0035357; C26876; D012185; MEDGEN:20554; MONDO:0018848; ORPHA:49041","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018848","Disease_Description__c":"A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.","GARD_Name__c":"IgG4-related retroperitoneal fibrosis","GARD_Synonym__c":"idiopathic retroperitoneal fibrosis; ormond disease; ormond's disease; retroperitoneal fibrosis; rpf - retroperitoneal fibrosis; sclerosing retroperitonitis","Curated_Disease_Description_Source__c":"MONDO:0018848","Curated_Disease_Description__c":"Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occur at any age but appears most frequently between the ages of 40 and 60. The inflamed tissue characteristic of retroperitoneal fibrosis typically causes gradually increasing pain in the lower abdomen, back, or side. Other symptoms arise from blockage of blood flow to and from various parts of the lower body, due to the development of scar tissue around blood vessels. The fibrosis usually develops first around the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Additional blood vessels including the inferior vena cava, which returns blood from the lower part of the body to the heart, may also be involved. Obstruction of blood flow to and from the legs can result in pain, changes in color, and swelling in these limbs. Impairment of blood flow in the intestines may lead to death (necrosis) of intestinal tissue, severe pain, and excessive bleeding (hemorrhage). In men, reduced blood flow back toward the heart (venous flow) may cause swelling of the scrotum. Because the kidneys are located in the retroperitoneal space, retroperitoneal fibrosis may result in blockage of the ureters, which are tubes that carry urine from each kidney to the bladder. Such blockages can lead to decreased or absent urine flow and kidney failure. When the kidneys fail, toxic substances build up in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a low number of red blood cells (anemia), and changes in brain function.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:49041","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018848","ORPHANET_ID__c":"ORPHA:49041","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibrosis retroperitoneal asociada a igg4","Spanish_Description_Source__c":"ORPHA:49041","Spanish_Description__c":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por inflamación y fibrosis potencialmente destructiva y formadora de masas en los tejidos blandos del retroperitoneo, asociada con elevación de los niveles séricos de IgG4 e infiltración de células plasmáticas positivas para IgG4 en al menos un órgano o sitio anatómico. Las localizaciones más frecuentes son periféricas a la aorta abdominal, así como a las arterias ilíaca y renal. Los síntomas clínicos son inespecíficos e incluyen dolor abdominal, dolor de espalda y edema de las extremidades inferiores. La afección puede ocurrir junto con una enfermedad relacionada con IgG4 en otras localizaciones anatómicas.","Spanish_Disease_Name__c":"fibrosis retroperitoneal asociada a igg4","Spanish_GARD_Synonym__c":"enfermedad de ormond; fibrosis retroperitoneal idiopática","Category_Linearization__c":"ORPHA:165711","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":"Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occur at any age but appears most frequently between the ages of 40 and 60. The inflamed tissue characteristic of retroperitoneal fibrosis typically causes gradually increasing pain in the lower abdomen, back, or side. Other symptoms arise from blockage of blood flow to and from various parts of the lower body, due to the development of scar tissue around blood vessels. The fibrosis usually develops first around the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Additional blood vessels including the inferior vena cava, which returns blood from the lower part of the body to the heart, may also be involved. Obstruction of blood flow to and from the legs can result in pain, changes in color, and swelling in these limbs. Impairment of blood flow in the intestines may lead to death (necrosis) of intestinal tissue, severe pain, and excessive bleeding (hemorrhage). In men, reduced blood flow back toward the heart (venous flow) may cause swelling of the scrotum. Because the kidneys are located in the retroperitoneal space, retroperitoneal fibrosis may result in blockage of the ureters, which are tubes that carry urine from each kidney to the bladder. Such blockages can lead to decreased or absent urine flow and kidney failure. When the kidneys fail, toxic substances build up in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a low number of red blood cells (anemia), and changes in brain function.","Curated_Disease_Description_Source__c":"MONDO:0018848","GARD_Synonym__c":"idiopathic retroperitoneal fibrosis; ormond disease; ormond's disease; retroperitoneal fibrosis; rpf - retroperitoneal fibrosis; sclerosing retroperitonitis","Name":"IgG4-related retroperitoneal fibrosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.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":"National Kidney Foundation","Website__c":"https://www.kidney.org/"},{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.org/"},{"Account_Name__c":"The Kidney Foundation of Canada","Website__c":"https://kidney.ca/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:49041"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/49041","Source__c":"C0035357; MONDO:0018848; ORPHA:49041","Xref__c":"ORPHA:49041"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=20554","Source__c":"C0035357","Xref__c":"MEDGEN:20554"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=197808006","Source__c":"MONDO:0018848","Xref__c":"197808006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012185","Source__c":"C0035357; MONDO:0018848","Xref__c":"D012185"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0035357","Source__c":"C0035357","Xref__c":"C0035357"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26876","Source__c":"C0035357; MONDO:0018848","Xref__c":"C26876"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49120005","Source__c":"C0035357","Xref__c":"49120005"},{"URL__c":"https://medlineplus.gov/genetics/condition/retroperitoneal-fibrosis","Source__c":"GARD:0009568","Xref__c":"https://medlineplus.gov/genetics/condition/retroperitoneal-fibrosis"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018848","Source__c":"GARD:0009568","Xref__c":"MONDO:0018848"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0005200","Source__c":"C0035357","Xref__c":"HP:0005200"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008682","HPO_Synonym__c":"Acute tubular necrosis; Renal tubular necrosis","HPO_Name__c":"Renal tubular epithelial necrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the serum that react against neutrophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003453","HPO_Synonym__c":"Antineutrophil antibodies; Neutrophil antibody positive","HPO_Name__c":"Antineutrophil antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002639","HPO_Name__c":"Budd-Chiari syndrome","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"One sided hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012583","HPO_Synonym__c":"Small kidney on one side; Underdeveloped kidney on one side","HPO_Name__c":"Unilateral renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of hypertension related to stenosis of the renal artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100817","HPO_Synonym__c":"Hypertension due to renal artery hyperplasia","HPO_Name__c":"Renovascular hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031191","HPO_Synonym__c":"Deep perivascular inflammatory infiltrate","HPO_Name__c":"Deep dermal perivascular inflammatory infiltrate","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005310","HPO_Name__c":"Large vessel vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of urine flow from the renal pelvis to the proximal ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000074","HPO_Synonym__c":"Pelviureteric junction obstruction; Ureteropelvic junction stenosis","HPO_Name__c":"Ureteropelvic junction obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000100","HPO_Synonym__c":"Nephrosis","HPO_Name__c":"Nephrotic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence in the serum of an autoantibody directed against the Fc portion of IgG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002923","HPO_Name__c":"Rheumatoid factor positive","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012871","HPO_Synonym__c":"Vaginal varicocele","HPO_Name__c":"Varicocele","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","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:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inability to develop or maintain an erection of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000802","HPO_Synonym__c":"Difficulty getting a full erection; Difficulty getting an erection","HPO_Name__c":"Impotence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001897","HPO_Name__c":"Normocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025379","HPO_Synonym__c":"Anti-TPO antibody positivity; Antimicrosomal antibodies; Antimicrosomal antibody positivity; TPOAbs","HPO_Name__c":"Anti-thyroid peroxidase antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","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:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030157","HPO_Synonym__c":"Flank pain","HPO_Name__c":"Flank pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003419","HPO_Synonym__c":"Lower back pain; Lumbago","HPO_Name__c":"Low back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of creatinine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003259","HPO_Synonym__c":"Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine","HPO_Name__c":"Elevated circulating creatinine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of nitrogen in the form of urea in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003138","HPO_Synonym__c":"Increased blood urea nitrogen; Increased BUN","HPO_Name__c":"Increased blood urea nitrogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence in serum of antibodies against smooth muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003262","HPO_Synonym__c":"Anti-smooth muscle antibody positivity; Smooth muscle antibody positive; Smooth muscle antibody positivity","HPO_Name__c":"Anti-smooth muscle antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012877","HPO_Name__c":"Retrograde ejaculation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:49041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012578","HPO_Synonym__c":"Membranous glomerulonephritis","HPO_Name__c":"Membranous nephropathy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology"]},"synonyms":["idiopathic retroperitoneal fibrosis"," ormond disease"," ormond's disease"," retroperitoneal fibrosis"," rpf - retroperitoneal fibrosis"," sclerosing retroperitonitis"],"spanishId":12387,"spanishName":"fibrosis-retroperitoneal"}