{"Name":"Immunoglobulin A vasculitis","DiseaseID__c":"GARD:0008204","id":8204,"encodedName":"immunoglobulin-a-vasculitis","IsDeleted":false,"Disease_Name_Full__c":"Immunoglobulin A vasculitis","Xref_IDs__c":"191306005; 86074002; C0034152; C34963; D011695; D69.0; DOID:11123; MEDGEN:48265; MONDO:0019167; ORPHA:761","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019167","Disease_Description__c":"A rare, small-vessel vasculitis characterized by skin purpura, arthritis, abdominal and/or renal involvement, IgA tissue deposits (arterioles, capillaries, and venules) and circulating IgA immune complexes.","GARD_Name__c":"Immunoglobulin A vasculitis","GARD_Synonym__c":"acute vascular purpura; allergic purpura; anaphylactoid purpura; autoimmune purpura; henoch-schoenlein purpura; henoch-schoenlein vasculitis; henoch-scholein purpura; henoch-schonlein purpura; henoch-schönlein purpura; henoch's purpura; hsp; hsp - henoch-schonlein purpura; iga (immunoglobulin a) vasculitis; iga vasculitis; purpura rheumatica; purpura, autoimmune; rheumatoid purpura; schoenlein-henoch purpura; spring fever; vascular purpura","Curated_Disease_Description_Source__c":"GARD:0008204","Curated_Disease_Description__c":"Henoch-Schonlein purpura (HSP), also called immunoglobulin A vasculitis (IgAV), is a vascular disease that primarily affects small blood vessels. The disease is characterized by abnormal deposits of immunoglobulin A (an antibody) in the blood vessels, leading to their inflammation (vasculitis). The small vessels of the skin, joints, kidneys, and digestive organs are particularly involved. Signs and symptoms usually begin suddenly (and progress over days) and may include purple-colored spots on the skin (purpura); joint pain; and gastrointestinal problems such as abdominal pain, nausea, bloody stools, and rarely, severe complications requiring surgery. People with HSP may also develop glomerulonephritis (injury to the kidneys caused by inflammation) and poor kidney function, which may result in swelling of parts of the body or face (edema), and blood and protein in the urine (hematuria and proteinuria). Most cases of HSP occur in children and go away without causing serious or long-term health problems. Less commonly, the disease affects adults and may be more severe, leading to chronic kidney disease and kidney failure. The cause of HSP is not completely understood, but research indicates that genes (especially those involved in regulating the immune system) may play a key role in predisposing a person to HSP, as well as its severity. However, while genes may increase the risk of developing the disease (and in some cases more than one family member has HSP), the disease itself is not inherited. The diagnosis of HSP may be made based on symptoms, blood and urine tests, imaging studies, and/or a biopsy of the skin or kidney.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:761","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019167","ORPHANET_ID__c":"ORPHA:761","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Vasculitis por inmunoglobulina a","Spanish_Description_Source__c":"ORPHA:761","Spanish_Description__c":"Es una vasculitis poco frecuente de pequeños vasos caracterizada por púrpura cutánea, artritis, afectación abdominal y/o renal, depósitos tisulares de IgA (arteriolas, capilares y vénulas) y complejos inmunes circulantes de IgA.","Spanish_Disease_Name__c":"vasculitis por inmunoglobulina a","Spanish_GARD_Synonym__c":"púrpura anafilactoide; púrpura de henoch-schönlein; púrpura reumatoide; púrpura reumática; vasculitis iga","Category_Linearization__c":"ORPHA:98023","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":"Henoch-Schonlein purpura (HSP), also called immunoglobulin A vasculitis (IgAV), is a vascular disease that primarily affects small blood vessels. The disease is characterized by abnormal deposits of immunoglobulin A (an antibody) in the blood vessels, leading to their inflammation (vasculitis). The small vessels of the skin, joints, kidneys, and digestive organs are particularly involved. Signs and symptoms usually begin suddenly (and progress over days) and may include purple-colored spots on the skin (purpura); joint pain; and gastrointestinal problems such as abdominal pain, nausea, bloody stools, and rarely, severe complications requiring surgery. People with HSP may also develop glomerulonephritis (injury to the kidneys caused by inflammation) and poor kidney function, which may result in swelling of parts of the body or face (edema), and blood and protein in the urine (hematuria and proteinuria). Most cases of HSP occur in children and go away without causing serious or long-term health problems. Less commonly, the disease affects adults and may be more severe, leading to chronic kidney disease and kidney failure. The cause of HSP is not completely understood, but research indicates that genes (especially those involved in regulating the immune system) may play a key role in predisposing a person to HSP, as well as its severity. However, while genes may increase the risk of developing the disease (and in some cases more than one family member has HSP), the disease itself is not inherited. The diagnosis of HSP may be made based on symptoms, blood and urine tests, imaging studies, and/or a biopsy of the skin or kidney.","Curated_Disease_Description_Source__c":"GARD:0008204","GARD_Synonym__c":"acute vascular purpura; allergic purpura; anaphylactoid purpura; autoimmune purpura; henoch-schoenlein purpura; henoch-schoenlein vasculitis; henoch-scholein purpura; henoch-schonlein purpura; henoch-schönlein purpura; henoch's purpura; hsp; hsp - henoch-schonlein purpura; iga (immunoglobulin a) vasculitis; iga vasculitis; purpura rheumatica; purpura, autoimmune; rheumatoid purpura; schoenlein-henoch purpura; spring fever; vascular purpura","Name":"Immunoglobulin A vasculitis","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":"National Kidney Federation","Website__c":"http://www.kidney.org.uk/"},{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"The Lauren Currie Twilight Foundation","Website__c":"https://thelaurencurrietwilightfoundation.org/"},{"Account_Name__c":"Arthritis Foundation","Website__c":"https://www.arthritis.org"},{"Account_Name__c":"Vasculitis Foundation","Website__c":"https://www.vasculitisfoundation.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"Vasculitis Foundation Canada","Website__c":"https://vasculitis.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:761"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011695","Source__c":"C0034152; MONDO:0019167","Xref__c":"D011695"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=191306005","Source__c":"C0034152; MONDO:0019167","Xref__c":"191306005"},{"URL__c":"https://www.orpha.net/en/disease/detail/761","Source__c":"C0034152; MONDO:0019167; ORPHA:761","Xref__c":"ORPHA:761"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=48265","Source__c":"C0034152","Xref__c":"MEDGEN:48265"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0034152","Source__c":"C0034152","Xref__c":"C0034152"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86074002","Source__c":"MONDO:0019167","Xref__c":"86074002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11123","Source__c":"MONDO:0019167","Xref__c":"DOID:11123"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34963","Source__c":"C0034152; MONDO:0019167","Xref__c":"C34963"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D69.0","Source__c":"MONDO:0019167","Xref__c":"D69.0"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019167","Source__c":"GARD:0008204","Xref__c":"MONDO:0019167"},{"URL__c":"https://www.niddk.nih.gov/health-information/kidney-disease/iga-vasculitis"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","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:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Frequent (30-79%)","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:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011276","HPO_Synonym__c":"Skin vascular malformation","HPO_Name__c":"Vascular skin abnormality","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002383","HPO_Synonym__c":"Brain inflammation","HPO_Name__c":"Infectious encephalitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005244","HPO_Synonym__c":"Death of digestive organ tissue due to poor blood supply; GI infarctions","HPO_Name__c":"Gastrointestinal infarctions","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of blood vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002633","HPO_Synonym__c":"Angiitis; Inflammation of blood vessel","HPO_Name__c":"Vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100820","HPO_Synonym__c":"Diseased glomeruli","HPO_Name__c":"Glomerulopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testicular inflammation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100796","HPO_Synonym__c":"Inflammation of testicles","HPO_Name__c":"Orchitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100665","HPO_Synonym__c":"Angioneurotic edema; Angiooedema; Quincke edema","HPO_Name__c":"Angioedema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","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:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Very frequent (80-99%)","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:761","HPO_Frequency__c":"Occasional (5-29%)","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:761","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:761","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:761","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100534","HPO_Synonym__c":"Inflammation of the thin layer on top of the white part of eye","HPO_Name__c":"Episcleritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology","Nephrology"],"Specialist":["Pulmonology","Rheumatology","Nephrology","Vascular Medicine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["acute vascular purpura"," allergic purpura"," anaphylactoid purpura"," autoimmune purpura"," henoch-schoenlein purpura"," henoch-schoenlein vasculitis"," henoch-scholein purpura"," henoch-schonlein purpura"," henoch-schönlein purpura"," henoch's purpura"," hsp"," hsp - henoch-schonlein purpura"," iga (immunoglobulin a) vasculitis"," iga vasculitis"," purpura rheumatica"," purpura, autoimmune"," rheumatoid purpura"," schoenlein-henoch purpura"," spring fever"," vascular purpura"]}