{"Name":"Primary intestinal lymphangiectasia","DiseaseID__c":"GARD:0007873","id":7873,"encodedName":"primary-intestinal-lymphangiectasia","IsDeleted":false,"Disease_Name_Full__c":"Primary intestinal lymphangiectasia","Xref_IDs__c":"6124009; C2931241; MEDGEN:444009; MONDO:0007916; ORPHA:90362","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007916","Disease_Description__c":"A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.","GARD_Name__c":"Primary intestinal lymphangiectasia","GARD_Synonym__c":"familial waldmann's disease (type); intestinal lymphatic obstruction; primary intestinal lymphangiectasis; primary lymphangiectasis of intestine; waldmann disease; waldmann's disease","Curated_Disease_Description_Source__c":"GARD:0007873","Curated_Disease_Description__c":"Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood, reduced levels of antibodies, and immunodeficiency.","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:90362","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007916","ORPHANET_ID__c":"ORPHA:90362","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfangiectasia intestinal primaria","Spanish_Description_Source__c":"ORPHA:90362","Spanish_Description__c":"Es una enfermedad intestinal poco frecuente caracterizada por vasos linfáticos intestinales dilatados que causan una pérdida de linfa hacia la luz del intestino delgado. Las manifestaciones clínicas incluyen edema relacionado con hipoalbuminemia (enteropatía pierde-proteínas), astenia, diarrea moderada, linfedema, derrame seroso y fallo de medro en niños.","Spanish_Disease_Name__c":"linfangiectasia intestinal primaria","Spanish_GARD_Synonym__c":"enfermedad de waldmann","Category_Linearization__c":"ORPHA:97935","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":"Primary intestinal lymphangiectasia is a digestive disorder in which the lymph vessels supplying the lining of the small intestine are enlarged. The cause of the condition is still unknown. The signs and symptoms include swelling of the legs and abdominal discomfort, loss of lymphatic fluid into the gastrointestinal tract, protein-losing enteropathy, too little albumin in the blood, reduced levels of antibodies, and immunodeficiency.","Curated_Disease_Description_Source__c":"GARD:0007873","GARD_Synonym__c":"familial waldmann's disease (type); intestinal lymphatic obstruction; primary intestinal lymphangiectasis; primary lymphangiectasis of intestine; waldmann disease; waldmann's disease","Name":"Primary intestinal lymphangiectasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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":"Lymphatic Education and Research Network","Website__c":"https://lymphaticnetwork.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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:90362"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931241","Source__c":"C2931241","Xref__c":"C2931241"},{"URL__c":"https://www.orpha.net/en/disease/detail/90362","Source__c":"C2931241; MONDO:0007916; ORPHA:90362","Xref__c":"ORPHA:90362"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=6124009","Source__c":"C2931241; MONDO:0007916","Xref__c":"6124009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444009","Source__c":"C2931241","Xref__c":"MEDGEN:444009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007916","Source__c":"GARD:0007873","Xref__c":"MONDO:0007916"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of protein in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003075","HPO_Synonym__c":"Decreased protein levels in blood","HPO_Name__c":"Hypoproteinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; 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Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032160","HPO_Name__c":"Cryptococcal meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized 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:0007430","HPO_Synonym__c":"Generalized tissue edema","HPO_Name__c":"Generalized edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","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:90362","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin D in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100512","HPO_Synonym__c":"Deficient in vitamin D; Low levels of vitamin D; Vitamin D deficiency","HPO_Name__c":"Decreased circulating vitamin D concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011472","HPO_Synonym__c":"Abnormal shape of small intestinal villus; 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Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal functionality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012719","HPO_Synonym__c":"Functional abnormality of the GI tract; GI dysfunction","HPO_Name__c":"Functional abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly in the metabolism of a vitamin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100508","HPO_Synonym__c":"Abnormality of vitamin metabolism","HPO_Name__c":"Abnormality of vitamin metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002917","HPO_Synonym__c":"Low blood magnesium levels; Low blood Mg levels","HPO_Name__c":"Hypomagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025624","HPO_Synonym__c":"Decreased proportion of CD4+ effector memory T cells; Decreased proportion of CD4-positive effector memory T cells; Decreased proportion of effector memory CD4-positive, alpha-beta T cells","HPO_Name__c":"Decreased CD4+ effector memory T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally elevated amount of alpha1-antitrypsin in the feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031686","HPO_Name__c":"Increased stool alpha1-antitrypsin concentration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031690","HPO_Name__c":"Opportunistic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","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:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001281","HPO_Synonym__c":"Intermittent involuntary muscle spasm","HPO_Name__c":"Tetany","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Very frequent (80-99%)","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:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90362","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["familial waldmann's disease (type)"," intestinal lymphatic obstruction"," primary intestinal lymphangiectasis"," primary lymphangiectasis of intestine"," waldmann disease"," waldmann's disease"]}