{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0008447/OMIM:182900","label":"Spherocytosis, type 1","mondoId":"MONDO:0008447","onsetQualifier":null,"recordKeys":["23b6fab06ceee14fa7e670b2a6f3055074a779fdd8044893084cc64316e88c2a","7260b9859a41d5b1f7b9616e8d3893b43dbe5b758034c106e03acc1ae9879fa6","815dd9a9a91375d36535c47435e09f0ad41ac40a060d40c2a166a7a2070a4d5d","8743fe4bcc8391a6de179b911107560ba3a2bad84a93f0e9e3655a6cc9fd4437","adccbe917301b79780f3ad2049de6fc2421b0f6c5be9f989a1d52d16d81b8227","af411fb83c2374f06b8d872e9327d81de05f24b95de8472fed76685bae6bea1e","cc38e4e75c8ed3630b1c2a3b8a13afd5d621b8a6d5bc63ad6e39b23cd7c7f290","d692c4cbba8e482360f387c41e127e8cb094f0621de723f0ba8973a531814f26"],"recordQualifiers":{},"scopeLabel":"OMIM:182900","sourceIds":["OMIM:182900"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010053/OMIM:270970","label":"Spherocytosis, autosomal recessive","mondoId":"MONDO:0010053","onsetQualifier":null,"recordKeys":["2c3fec0126ba65eb7096994e456e654528e410069b5d54a4f42278776b4419a5","f229713a42833a636e0737764a5473a5d6d0126ea527751a13e1aafdc349da6c"],"recordQualifiers":{},"scopeLabel":"OMIM:270970","sourceIds":["OMIM:270970"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012981/OMIM:612653","label":"Spherocytosis, type 4","mondoId":"MONDO:0012981","onsetQualifier":null,"recordKeys":["00e4cf34265e448fe858cda020dec03c7d57f0041229761a03e1edec3af1843d","47140b0ebb32beec30e9923c51eb9bb916b71e21ba1177c33cdeb57d437fd5e7","634c04a4d2855e1d2c3e578395dd170e27e90f1766a2cb9b49b8960415e4ef63","a3f207e445a02be665eaa99736d3c30dee0a8736862cb5f2e5c5c4669abc5031","ad5cb3e8eea339087170211367ba672dd2d590faaf9617e7052d247ce2051b9f","db49823005c93a3f0c05b8394c6b8c09d9f070ba1acde4c9bb03304d236f8db5","f2a348aabd342deaa95385ea0097e91e43de76addeae3d95f0b6aa23bdee9352"],"recordQualifiers":{},"scopeLabel":"OMIM:612653","sourceIds":["OMIM:612653"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012985/OMIM:612690","label":"Spherocytosis, type 5","mondoId":"MONDO:0012985","onsetQualifier":null,"recordKeys":["0033ccb58fe46aa460c0feb3487b0575dfc444d35a4e2c676066bd80ddf7a93c","145350f38053867d39b759fd51cb057c004c157d80b7aeca7b8e4b5119dbae3b","2caf7ad68d387112d9a84f20cca147c8fea538a6b2ef82ea9267a18b03462141","5a3a7f8b78bdd02780bc4cd7b0c2e44d1ba3c9881986d784c62e18bd5ef9f7b6","69cc9c0a60cccee055bf0158238cb0e055349d768839da2b65dce4769278f0ec","9880453a7785b5d89badb883d053147044ca57e5e59b7e83cabe6e2f22b9652b","b5ec6edf46040fbdfaaf7de6f813dceb847ccd916075d40e29a4ab3a62784375","d9817305f244c605348aa2957ee1b83a086dcdf0d8ffe06a109e19919f1e062f"],"recordQualifiers":{},"scopeLabel":"OMIM:612690","sourceIds":["OMIM:612690"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0000913/OMIM:616649","label":"Spherocytosis, type 2","mondoId":"MONDO:0000913","onsetQualifier":null,"recordKeys":["07c0f1b21fc189a4d7c9fa229244ffff6b312f89a5ce3ad359062da67e7ad725","119fe8bd5a1406459ccf82a5a248076227ede3c523959bc340f82e25751b2c1d","333ee6ab2bc9d204681e7497061b392bef1193d5852b05ce38017ac4a78659a1","36d50cbe2c4c01401bb3c6dd729130f89e4243d06588e5acc54b18234464b959","430579b46d8231dc17de395465496a0a210c2532c2a66435c9157cf6bba0b28a","543a996f7ac0e99e58a8460a120ff73eb45e2a453bd0913719b3f48c8ebd0355","554ca4358e38e148171eded8ee41a4a85c86bc34d0456f4c21a0510cf5b80418","5a517843a6cf74f9fe9ef5f2d7fb251797cc349e867ed0316c47c9c2b0ca001a"],"recordQualifiers":{},"scopeLabel":"OMIM:616649","sourceIds":["OMIM:616649"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0019350/ORPHA:822","label":"Hereditary spherocytosis","mondoId":"MONDO:0019350","onsetQualifier":null,"recordKeys":["0535dd298ff16af655817ab512ad2634f94a99bb4c0db5f9e711993656eace27","07ce67ffaf4570aa87a4d5e0f28f1c82a361732f8dc817e9d81684d677d7bed6","0bd51d7f6e844c5cb96d4a909e4984e95f33a3e6d36cfd0ae8c3e3a2bc3fa527","162ef92c26b8c422e44e284bc84f66969a1c009b45d4bf07c66b7bf59c249700","1e45bec5775489d549cd66c8d6756b0551f2f3f723456edbcce2de1654569999","2f5a6be970a283c6f99e14f669b407bb751b4fd8f43dc7ef753b92e3687779f0","40b8739a32dc45c3e1775e4572b760983da6c4540bee49a97ea8b995e01ecac0","43486acc944a2bff8f53fb9dafa0c12a21516a99abcebd88f6829dbf92af2d53","4667f3bc36a5b9b1c8e8e411988c701c3e7bdfa98fc318535d365136176a8b43","54360de6f5a7f7a99db6a4824a2951dab478b6d4570fe095932850f4bb7526fb","5ebc72c89909fb4aa58fde34b62fe8601942e712b8f48f1fea9887af1cb20b15","6244050c437fda1bb2eead6c3148e35105664e77419f159316e9590aa8cfb3da","6297b83b4de32f4644c25e6f706c7bbbc6b1dd71a243d2b25f24b487fcdeb41b","63328837463c7a3532125b25af2d15c5370e9528a75a1f6893de819384c44d76","757e7db54b165d3776eeb251f0ce81f65ea60538427ce08c14a424cf75cd6e7e","8dfcd6d1757bec3bd29a5b7069221bfd7bbfff42cf52b67bf665a5b515bc7454","9117d0fbc13e7f9d33af2de3b1a347d4a784184bbce8100eb037af98bfd03a3a","bbd52ebd947cbb04dcd7ed65aa62fba09dba5f742391db445198893cf4b234e0","c11dd1b260b726ab7dd57b9e162ef787962baef4d17441014835178471c5c279","ce92a3c5d089196551f36caa694ec22fcca3b2b117f0679c9d0e6fe58052e139","d5d752a84f486ff2c04e86231c02d11aab464d9148f58ef033dbb64d8ea58c0f","da178a973a841d7727a87fa9ab4e95c512ecedb4a77324e984d765e6b9304bba","e5735ed66e38599c01188dd00027016885bb03bbc450e05661ac817ee8e12d55","e8e49ea292c209f9e0b52393e9f22a8613fa9b0106449b0b8a4f1d4b999d3587","f003be7860ae539f40cfc69869c00ae8012b75a45331155ce62d9b5a4e745665","f23c1aac61dc413e8e8f8ef37d8e49cb6c80d305f731a2c88ebbb916129ff21e","ff2ec8283b2823580ce2f15857a0d717cb464e3d1cc5d2818d4ca17f0bfdd059"],"recordQualifiers":{},"scopeLabel":"ORPHA:822","sourceIds":["ORPHA:822"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0008447/OMIM:182900","MONDO:0010053/OMIM:270970","MONDO:0012981/OMIM:612653","MONDO:0012985/OMIM:612690"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":25,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":60,"sourceGroups":{"omim":6,"orphanet":27,"published":27}},"features":[{"hpoId":"HP:0003270","label":"Abdominal distention","primary":false},{"hpoId":"HP:0002027","label":"Abdominal pain","primary":false},{"hpoId":"HP:0011893","label":"Abnormal leukocyte count","primary":false},{"hpoId":"HP:0011873","label":"Abnormal platelet count","primary":false},{"hpoId":"HP:0001927","label":"Acanthocytosis","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0025143","label":"Chills","primary":false},{"hpoId":"HP:0001081","label":"Cholelithiasis","primary":false},{"hpoId":"HP:0001978","label":"Extramedullary hematopoiesis","primary":false},{"hpoId":"HP:0001945","label":"Fever","primary":false},{"hpoId":"HP:0001997","label":"Gout","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0001878","label":"Hemolytic anemia","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0002904","label":"Hyperbilirubinemia","primary":false},{"hpoId":"HP:0100724","label":"Hypercoagulability","primary":false},{"hpoId":"HP:0011900","label":"Hypofibrinogenemia","primary":false},{"hpoId":"HP:0025548","label":"Increased mean corpuscular hemoglobin concentration","primary":false},{"hpoId":"HP:0005502","label":"Increased red cell osmotic fragility","primary":false},{"hpoId":"HP:0000952","label":"Jaundice","primary":false},{"hpoId":"HP:0040186","label":"Maculopapular exanthema","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0003326","label":"Myalgia","primary":false},{"hpoId":"HP:0000980","label":"Pallor","primary":false},{"hpoId":"HP:0001723","label":"Restrictive cardiomyopathy","primary":false},{"hpoId":"HP:0001923","label":"Reticulocytosis","primary":false},{"hpoId":"HP:0200042","label":"Skin ulcer","primary":false},{"hpoId":"HP:0004444","label":"Spherocytosis","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0005525","label":"Spontaneous hemolytic crises","primary":false}],"ledeHtml":"Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.","mondoId":"MONDO:0019350","records":[{"frequencyKind":"count","key":"0033ccb58fe46aa460c0feb3487b0575dfc444d35a4e2c676066bd80ddf7a93c","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001923","is_excluded":false,"label":"Reticulocytosis","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"00e4cf34265e448fe858cda020dec03c7d57f0041229761a03e1edec3af1843d","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612653","disease_name":"Spherocytosis, type 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005502","is_excluded":false,"label":"Increased red cell osmotic fragility","onset_id":null,"reference":"PMID:8471774","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0535dd298ff16af655817ab512ad2634f94a99bb4c0db5f9e711993656eace27","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0025548","is_excluded":false,"label":"Increased mean corpuscular hemoglobin concentration","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"07c0f1b21fc189a4d7c9fa229244ffff6b312f89a5ce3ad359062da67e7ad725","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"TAS","frequency_raw":"2/2","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:11703334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"07ce67ffaf4570aa87a4d5e0f28f1c82a361732f8dc817e9d81684d677d7bed6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001723","is_excluded":false,"label":"Restrictive cardiomyopathy","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0bd51d7f6e844c5cb96d4a909e4984e95f33a3e6d36cfd0ae8c3e3a2bc3fa527","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005502","is_excluded":false,"label":"Increased red cell osmotic fragility","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"119fe8bd5a1406459ccf82a5a248076227ede3c523959bc340f82e25751b2c1d","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001927","is_excluded":false,"label":"Acanthocytosis","onset_id":null,"reference":"PMID:6215583","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"145350f38053867d39b759fd51cb057c004c157d80b7aeca7b8e4b5119dbae3b","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"162ef92c26b8c422e44e284bc84f66969a1c009b45d4bf07c66b7bf59c249700","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1e45bec5775489d549cd66c8d6756b0551f2f3f723456edbcce2de1654569999","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100724","is_excluded":false,"label":"Hypercoagulability","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"23b6fab06ceee14fa7e670b2a6f3055074a779fdd8044893084cc64316e88c2a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"PCS","frequency_raw":"6/13","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:17327413","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2c3fec0126ba65eb7096994e456e654528e410069b5d54a4f42278776b4419a5","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:270970","disease_name":"Spherocytosis, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004444","is_excluded":false,"label":"Spherocytosis","onset_id":null,"reference":"OMIM:270970","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2caf7ad68d387112d9a84f20cca147c8fea538a6b2ef82ea9267a18b03462141","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0011873","is_excluded":true,"label":"Abnormal platelet count","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2f5a6be970a283c6f99e14f669b407bb751b4fd8f43dc7ef753b92e3687779f0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"333ee6ab2bc9d204681e7497061b392bef1193d5852b05ce38017ac4a78659a1","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005502","is_excluded":false,"label":"Increased red cell osmotic fragility","onset_id":null,"reference":"PMID:11703334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"36d50cbe2c4c01401bb3c6dd729130f89e4243d06588e5acc54b18234464b959","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0004444","is_excluded":false,"label":"Spherocytosis","onset_id":null,"reference":"PMID:6215583;PMID:19538529","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"40b8739a32dc45c3e1775e4572b760983da6c4540bee49a97ea8b995e01ecac0","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0040186","is_excluded":false,"label":"Maculopapular exanthema","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"430579b46d8231dc17de395465496a0a210c2532c2a66435c9157cf6bba0b28a","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"TAS","frequency_raw":"2/2","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:11703334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"43486acc944a2bff8f53fb9dafa0c12a21516a99abcebd88f6829dbf92af2d53","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005525","is_excluded":false,"label":"Spontaneous hemolytic crises","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4667f3bc36a5b9b1c8e8e411988c701c3e7bdfa98fc318535d365136176a8b43","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001978","is_excluded":false,"label":"Extramedullary hematopoiesis","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"47140b0ebb32beec30e9923c51eb9bb916b71e21ba1177c33cdeb57d437fd5e7","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:612653","disease_name":"Spherocytosis, type 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"OMIM:612653","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"54360de6f5a7f7a99db6a4824a2951dab478b6d4570fe095932850f4bb7526fb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"543a996f7ac0e99e58a8460a120ff73eb45e2a453bd0913719b3f48c8ebd0355","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"PMID:11703334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"554ca4358e38e148171eded8ee41a4a85c86bc34d0456f4c21a0510cf5b80418","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"PCS","frequency_raw":"12/12","hpo_id":"HP:0001923","is_excluded":false,"label":"Reticulocytosis","onset_id":null,"reference":"PMID:11703334;PMID:19538529","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5a3a7f8b78bdd02780bc4cd7b0c2e44d1ba3c9881986d784c62e18bd5ef9f7b6","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0004444","is_excluded":false,"label":"Spherocytosis","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5a517843a6cf74f9fe9ef5f2d7fb251797cc349e867ed0316c47c9c2b0ca001a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:616649","disease_name":"Spherocytosis, type 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"PMID:11703334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5ebc72c89909fb4aa58fde34b62fe8601942e712b8f48f1fea9887af1cb20b15","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003270","is_excluded":false,"label":"Abdominal distention","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6244050c437fda1bb2eead6c3148e35105664e77419f159316e9590aa8cfb3da","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000980","is_excluded":false,"label":"Pallor","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6297b83b4de32f4644c25e6f706c7bbbc6b1dd71a243d2b25f24b487fcdeb41b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001997","is_excluded":false,"label":"Gout","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63328837463c7a3532125b25af2d15c5370e9528a75a1f6893de819384c44d76","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"634c04a4d2855e1d2c3e578395dd170e27e90f1766a2cb9b49b8960415e4ef63","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612653","disease_name":"Spherocytosis, type 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004444","is_excluded":false,"label":"Spherocytosis","onset_id":null,"reference":"PMID:8471774","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"69cc9c0a60cccee055bf0158238cb0e055349d768839da2b65dce4769278f0ec","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0005502","is_excluded":false,"label":"Increased red cell osmotic fragility","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7260b9859a41d5b1f7b9616e8d3893b43dbe5b758034c106e03acc1ae9879fa6","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0001923","is_excluded":false,"label":"Reticulocytosis","onset_id":null,"reference":"PMID:17327413","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"757e7db54b165d3776eeb251f0ce81f65ea60538427ce08c14a424cf75cd6e7e","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001923","is_excluded":false,"label":"Reticulocytosis","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"815dd9a9a91375d36535c47435e09f0ad41ac40a060d40c2a166a7a2070a4d5d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"OMIM:182900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8743fe4bcc8391a6de179b911107560ba3a2bad84a93f0e9e3655a6cc9fd4437","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"PCS","frequency_raw":"13/14","hpo_id":"HP:0004444","is_excluded":false,"label":"Spherocytosis","onset_id":null,"reference":"PMID:17327413","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8dfcd6d1757bec3bd29a5b7069221bfd7bbfff42cf52b67bf665a5b515bc7454","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9117d0fbc13e7f9d33af2de3b1a347d4a784184bbce8100eb037af98bfd03a3a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9880453a7785b5d89badb883d053147044ca57e5e59b7e83cabe6e2f22b9652b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a3f207e445a02be665eaa99736d3c30dee0a8736862cb5f2e5c5c4669abc5031","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:612653","disease_name":"Spherocytosis, type 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"OMIM:612653","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ad5cb3e8eea339087170211367ba672dd2d590faaf9617e7052d247ce2051b9f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:612653","disease_name":"Spherocytosis, type 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:8471774","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"adccbe917301b79780f3ad2049de6fc2421b0f6c5be9f989a1d52d16d81b8227","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001081","is_excluded":false,"label":"Cholelithiasis","onset_id":null,"reference":"OMIM:182900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"af411fb83c2374f06b8d872e9327d81de05f24b95de8472fed76685bae6bea1e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"PCS","frequency_raw":"12/14","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"PMID:17327413","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b5ec6edf46040fbdfaaf7de6f813dceb847ccd916075d40e29a4ab3a62784375","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0011893","is_excluded":true,"label":"Abnormal leukocyte count","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bbd52ebd947cbb04dcd7ed65aa62fba09dba5f742391db445198893cf4b234e0","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c11dd1b260b726ab7dd57b9e162ef787962baef4d17441014835178471c5c279","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001081","is_excluded":false,"label":"Cholelithiasis","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cc38e4e75c8ed3630b1c2a3b8a13afd5d621b8a6d5bc63ad6e39b23cd7c7f290","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"PCS","frequency_raw":"7/12","hpo_id":"HP:0005502","is_excluded":false,"label":"Increased red cell osmotic fragility","onset_id":null,"reference":"PMID:17327413","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ce92a3c5d089196551f36caa694ec22fcca3b2b117f0679c9d0e6fe58052e139","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d5d752a84f486ff2c04e86231c02d11aab464d9148f58ef033dbb64d8ea58c0f","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d692c4cbba8e482360f387c41e127e8cb094f0621de723f0ba8973a531814f26","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:182900","disease_name":"Spherocytosis, type 1","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"PMID:17327413","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d9817305f244c605348aa2957ee1b83a086dcdf0d8ffe06a109e19919f1e062f","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:612690","disease_name":"Spherocytosis, type 5","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:7803799","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"da178a973a841d7727a87fa9ab4e95c512ecedb4a77324e984d765e6b9304bba","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003326","is_excluded":false,"label":"Myalgia","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"db49823005c93a3f0c05b8394c6b8c09d9f070ba1acde4c9bb03304d236f8db5","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612653","disease_name":"Spherocytosis, type 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"PMID:8471774","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e5735ed66e38599c01188dd00027016885bb03bbc450e05661ac817ee8e12d55","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002027","is_excluded":false,"label":"Abdominal pain","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e8e49ea292c209f9e0b52393e9f22a8613fa9b0106449b0b8a4f1d4b999d3587","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0200042","is_excluded":false,"label":"Skin ulcer","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f003be7860ae539f40cfc69869c00ae8012b75a45331155ce62d9b5a4e745665","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0025143","is_excluded":false,"label":"Chills","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f229713a42833a636e0737764a5473a5d6d0126ea527751a13e1aafdc349da6c","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:270970","disease_name":"Spherocytosis, autosomal recessive","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"OMIM:270970","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f23c1aac61dc413e8e8f8ef37d8e49cb6c80d305f731a2c88ebbb916129ff21e","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011900","is_excluded":false,"label":"Hypofibrinogenemia","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f2a348aabd342deaa95385ea0097e91e43de76addeae3d95f0b6aa23bdee9352","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612653","disease_name":"Spherocytosis, type 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001923","is_excluded":false,"label":"Reticulocytosis","onset_id":null,"reference":"PMID:8471774","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ff2ec8283b2823580ce2f15857a0d717cb464e3d1cc5d2818d4ca17f0bfdd059","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:822","disease_name":"Hereditary spherocytosis","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004444","is_excluded":false,"label":"Spherocytosis","onset_id":null,"reference":"ORPHA:822","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/hereditary-spherocytosis\">Hereditary spherocytosis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in at least five genes cause hereditary spherocytosis. These genes provide instructions for producing proteins that are found on the membranes of red blood cells. These proteins transport molecules into and out of cells, attach to other proteins, and maintain cell structure. Some of these proteins allow for cell flexibility; red blood cells have to be flexible to travel from the large blood vessels (arteries) to the smaller blood vessels (capillaries). The proteins allow the cell to change shape without breaking when passing through narrow capillaries.</p><p>Mutations in red blood cell membrane proteins result in an overly rigid, misshapen cell. Instead of a flattened disc shape, these cells are spherical. Dysfunctional membrane proteins interfere with the cell&#x27;s ability to change shape when traveling through the blood vessels. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of hereditary spherocytosis.</p><p>Mutations in the ANK1 gene are responsible for approximately half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis each account for a smaller percentage of cases of this condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/hereditary-spherocytosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Hereditary spherocytosis?"},{"bodyHtml":"<p>There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.</p><p>People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/hereditary-spherocytosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"hereditary-spherocytosis","sourceDocuments":[{"name":"Hereditary spherocytosis","reviewed":"2010-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:11.792531+00:00","label":"Causes","pageSha256":"06ab0d390f40a80a050cf4dd963b2c1294fcd1cfa0a07f3ec78580af8f61f418","sourceUrl":"https://medlineplus.gov/genetics/condition/hereditary-spherocytosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/hereditary-spherocytosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Hereditary spherocytosis"},"schemaVersion":1}