{"Name":"Pyropoikilocytosis, hereditary","DiseaseID__c":"GARD:0004619","id":4619,"encodedName":"pyropoikilocytosis-hereditary","IsDeleted":false,"Disease_Name_Full__c":"Pyropoikilocytosis, hereditary","Xref_IDs__c":"9434008; C0520739; C563004; C98943; DOID:0061026; MEDGEN:141708; MONDO:0009948; OMIM:266140","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009948","Disease_Description__c":"An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.","GARD_Name__c":"Pyropoikilocytosis, hereditary","GARD_Synonym__c":"hereditary pyropoikilocytosis; hpp - hereditary pyropoikilocytosis; pyropoikilocytosis","Curated_Disease_Description_Source__c":"MEDGEN:C0013902","Curated_Disease_Description__c":"An inherited blood disorder in which a large number of red blood cells have an elliptical morphology.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009948","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"An inherited blood disorder in which a large number of red blood cells have an elliptical morphology.","Curated_Disease_Description_Source__c":"MEDGEN:C0013902","GARD_Synonym__c":"hereditary pyropoikilocytosis; hpp - hereditary pyropoikilocytosis; pyropoikilocytosis","Name":"Pyropoikilocytosis, hereditary","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0013902"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=141708","Source__c":"C0520739","Xref__c":"MEDGEN:141708"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0520739","Source__c":"C0520739","Xref__c":"C0520739"},{"URL__c":"https://www.omim.org/entry/266140","Source__c":"C0520739; MONDO:0009948","Xref__c":"OMIM:266140"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=9434008","Source__c":"C0520739; MONDO:0009948","Xref__c":"9434008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563004","Source__c":"MONDO:0009948","Xref__c":"C563004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98943","Source__c":"C0520739; MONDO:0009948","Xref__c":"C98943"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004839","Source__c":"C0520739","Xref__c":"HP:0004839"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009948","Source__c":"GARD:0004619","Xref__c":"MONDO:0009948"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061026","Source__c":"MONDO:0009948","Xref__c":"DOID:0061026"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPTA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:266140","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":"OMIM:266140","Feature__r":{"HPO_Description__c":"The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004445","HPO_Synonym__c":"Ovalocytes; Ovalocytosis","HPO_Name__c":"Elliptocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:266140","Feature__r":{"HPO_Description__c":"The presence of erythrocytes that are sphere-shaped and reduced in size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004835","HPO_Name__c":"Microspherocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:266140","Feature__r":{"HPO_Description__c":"A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004839","HPO_Synonym__c":"hereditary pyropoikilocytosis","HPO_Name__c":"Pyropoikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["hereditary pyropoikilocytosis"," hpp - hereditary pyropoikilocytosis"," pyropoikilocytosis"]}