{"Name":"Overhydrated hereditary stomatocytosis","DiseaseID__c":"GARD:0004183","id":4183,"encodedName":"overhydrated-hereditary-stomatocytosis","IsDeleted":false,"Disease_Name_Full__c":"Overhydrated hereditary stomatocytosis","Xref_IDs__c":"722125003; C1861455; C566111; DOID:0111562; MEDGEN:348876; MONDO:0008493; OMIM:185000; ORPHA:3203","USA_Estimate__c":"1,000","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":"1 to 8,000","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":2,"Description_Source__c":"MONDO:0008493","Disease_Description__c":"Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.","GARD_Name__c":"Overhydrated hereditary stomatocytosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0008493","Curated_Disease_Description__c":"Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3203","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008493","ORPHANET_ID__c":"ORPHA:3203","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Estomatocitosis hereditaria con hematíes hiperhidratados","Spanish_Description_Source__c":"ORPHA:3203","Spanish_Description__c":"La estomatocitosis hereditaria con hematíes hiperhidratados (OHSt, en inglés) es un trastorno de la permeabilidad de la membrana de los hematíes a los cationes monovalentes y se caracteriza clínicamente por una anemia hemolítica.","Spanish_Disease_Name__c":"estomatocitosis hereditaria con hematíes hiperhidratados","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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":"Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.","Curated_Disease_Description_Source__c":"MONDO:0008493","Name":"Overhydrated hereditary stomatocytosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3203"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3203"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861455"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004183","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/3203","Source__c":"C1861455; MONDO:0008493; ORPHA:3203","Xref__c":"ORPHA:3203"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111562","Source__c":"MONDO:0008493","Xref__c":"DOID:0111562"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722125003","Source__c":"C1861455; MONDO:0008493","Xref__c":"722125003"},{"URL__c":"https://www.omim.org/entry/185000","Source__c":"C1861455; MONDO:0008493; ORPHA:3203","Xref__c":"OMIM:185000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566111","Source__c":"MONDO:0008493","Xref__c":"C566111"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348876","Source__c":"C1861455","Xref__c":"MEDGEN:348876"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861455","Source__c":"C1861455","Xref__c":"C1861455"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008493","Source__c":"GARD:0004183","Xref__c":"MONDO:0008493"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RHAG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025547","HPO_Synonym__c":"Decreased MCH; Decreased MCHC; Decreased mean corpuscular Hb concentration","HPO_Name__c":"Decreased mean corpuscular hemoglobin concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Jaundice that is sometimes present, sometimes not.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001046","HPO_Synonym__c":"Intermittent icterus; Intermittent yellow skin; Intermittent yellowing of skin","HPO_Name__c":"Intermittent jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025065","HPO_Synonym__c":"Abnormal erythrocyte volume; Abnormal MCV","HPO_Name__c":"Abnormal mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004446","HPO_Synonym__c":"erythrocyte stomatocytes; Red cell stomatocytosis","HPO_Name__c":"Stomatocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001977","HPO_Synonym__c":"Abnormal blood clot; Abnormal blood clotting","HPO_Name__c":"Abnormal thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3203","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005502","HPO_Synonym__c":"Increased erythrocyte osmotic fragility; Increased red cell fragility","HPO_Name__c":"Increased red cell osmotic fragility","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":[""]}