{"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:0014353/OMIM:615816","label":"Immunodeficiency 23","mondoId":"MONDO:0014353","onsetQualifier":null,"recordKeys":["016e559e47e21678774c685fdaa2d38e79e486c7a7bc46368b1a2be97d8f48cc","031ace16c4a9da15cca1fc0600e97b70be1227712842abbc333354abc84e37ee","1c5c05b2efc27b5bf9162226c57a56377a8f49f9bc85b4b615586043a354cc1c","1dd34aea80f06413a943592b240dfcd5af131165f83973ae72005e82d1e68d88","20a106a06ce538fc14080bf5f84ffc4ca85639f839f9ea78462e933f148b3095","21ee39021c5d9e0b994c78e34fb2f39a7ed2dafa8eb8c6f773ead3374661a4eb","22f19e920dff6768edbd89ab1ae6855662e1102b4c5632f7c0df4266527f4e71","25071b7e21c26ee3220b89ee9e3e2984de56c1015637326cb49beb4c2bff5fbd","25e8828e3c785d571fd417d6f69c11c2e3c56e0e4eab8ea50c06ac03783e82ca","265d9f0791d0aafa44faef699c71883a5150ab5510af08df2671ce325885e035","26c7aaec8a7fb201c184b6ca74b4e2b1681a8e4c0b216985ca016b4f5dfaae0a","296a7e1993e2cc2bbf2793238b1e7cef00e8349c22d329a4d28274590578a2c9","3153519064551d5555cf1149e0e892144956c892b1242c994aa285c25a27cd53","3d08ef69ca67a5327f83869939b1bc7d0e59419807a473552e698f761838cf5a","4da3f48c8a9da40cc8eb86605a07964e18592997e0463c1658a9f59fc081e8f4","4e3dbeb43ff241177003ddd7a7929480a6a8a403aa48324847c6166b59694d60","6ac3f0fe03ebbdf2767f1905716f334dc63e6fbfe1c940c14ae21c1d4f44373c","70a83388c9d98028f97bab739d89c73b734f4d1893e9707b372061eac4c0984d","744f65360f84af8f53cb9040b26a1f8e245b4d7b3b314d6f525452ab4476bb05","788d71c13888c7b51c84f015bcab6c0bd29ecc1dd0d2fc2c8a4de7be8b6c32ef","7cb79e79a1ea62d9c185b02eb153e47d0afaa1d762d010a0db6b37f4296f713c","80405994ede8aa5dd2943b2ec83b91e12e966f699dbde114e7cb16cf3f3b3ac7","80fc7042ef79623c209590d7facb1d6586fa91e593029ca99c6cc3351da0b583","87b835c989e70c4cd3c9fcd543aeaa8432b3236afd4390f600928aa7a2af5e40","8a20052fd034b9292ff9956f0c32fc3b75e02948c2471938af9b43df77678a9c","906a3a74c4669f854ca42566d6f8e6194b38593f7a7b426b5e94f1fd9c43bf31","9cfe578a97d3cb8cf454316e861981678c4d915ba9e7e65fd5d785b85426a70e","9e201a0326d69e3548db93b97be50fbf31b6e35adb073c8a4c4ffbeaf8bb7d0a","9f04ea9b0e8004fbfb971e6fa46abca02b5f2900cd7c097fae8ff98b88ff2a63","a2bba4cab276b4aedbc11793e808c4c46f89fc2441846faa5d662c3c0824e7f7","a405cc0184d44e289e44a98d6482f7130b5574281d227a6884f94b56529fc0aa","a654a0161a7f7623db30849ae08ba578facaeb97de3803104a793df1a0fc4b25","a8ae15aeaa7aafecc86fe6bcc869c46e6fca3f36f6f366107f1b8ba77e005241","ab3d22470dce95bb36d0371876212856610686292bfed5d90fde70c5b5c86e90","bc57496ead1cf0f1a508db1b63ccb2af3f6c3b104f9c5591af67ada23c6eb4f7","c139437c8803628d2ceab4111aba5391138fa345d63fd0669f849880d903b298","c2312d476f2546d338ad90d0bc02a60b82e80a1d955ac23d41cf034b069bde6c","ccd9ab984ad22e74df1ae977a0b2b981b1ea5c7fb80a729d9320e647f3a4d2ad","cf869897b30e73995186d7ee6401c96465a52f41e0ca45b6b43b27d8ab58051b","dc3666fb0dfc4ffe01c7308335426383a9ac336c15c0a8a14343bdc514db2fea","de3992facc83d60b59dcc2189ef607f789b40370eca637f95e0dc257daa174ed","ebb141fcd786cab79bcc17a5343511cf48b48d2497e47878cfa136875e00faa9","f447861f58d7dc62450af498553af22b8ba6b1c0bb3f5f167d53a260d6c63320","f4ab85a843c8ac9e4b7d392dbb4923f0763dc1c60c48db0084a8167426f4f931","f4da5edaf4755fe9820577bc7f24ff10609546675ba6ee9b7d0ad26065f73b86","fc9bb80386d06aa9c50c17293a80650653a2db48a36710aadfcaa2dfb0bbb72a"],"recordQualifiers":{},"scopeLabel":"OMIM:615816","sourceIds":["OMIM:615816"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014353/ORPHA:443811","label":"PGM3-CDG","mondoId":"MONDO:0014353","onsetQualifier":null,"recordKeys":["01871eaef75c6bc08f27afbb68491486dea27ab630fcc978efe5a5bd0d74be59","01a9e341d55b9020c6b78ad6e401292f7b6204242dba898714ca7f82ab9c5190","02b3790d2a0d6eb76613379d0a8bb82033bd9a2773740eb1b4dc49bc92434538","0569f525aa21e47a2c6b11d3233e0a531466975f1f3c80de604c96dfcd87d978","064e401a46ec59d0e9f6f1878437da69c1fd4b63a0cfbdb07b98c7149053dbac","0fe3808d1ade7664c807c5df9cd0de2c6d72fe9d6ec70dbb67b743c6dd943a30","14939d8daa35571a0e0cfd65d4fb87d131ace69dd6c2509de74deea1d3302706","1cdd9841086c858ee93274ba62188795c9ac771d9ef0f0fb46076e7e5a7734b0","1df518df019b8481b28ae6cb509200aff70fe82ae6d05c5d9c40e8826b8767ab","1ecbe629f7b769f28a78db5130a9eb83331f4ad7f1f3e5bfee54fedbf2ef40dd","214cea02a6fca75db4f4d91b2c411f379c5ab4f508ba81a0e0b4818feed9b054","2bd18b7c2f99eda74cb0738aa4c1f3fc1fad46316c6cb13ad462685c86bba520","3010b352e4c87f314847d8a01053872fe8c8a3e621f7ad7d6fa6e96d9f07e64f","338a647b852aaa5ec9bf485a2ac8208e8273a16556c6cf8e64253c771c751f82","3b46af0dadc55ce14d65b51d7db0f50829cadd8cbd84d2df13f9df2d73c198c8","3ea4d4a9df2e31708e4946a3fd75f4baa94220459d3a171d2e1af77889adfc27","3f79d73d15111f3f1efc6dd42751a7b925789a78b01f81f480436851c0dccad0","450b583026a267e98a491019843cfdcf83f770368780240a30b6e535a436a442","46e36ee030d0fe5fc50947b2013c46789db485f31709e66658573f2bbeeab1de","495e694e0107463a9e1cbb735f90e90775ae807d1e97fe93623973bad651ebd0","5c9b90e86aef900b8083a6f3f6100a15fd2119f144800274444b5fd354ddf30b","5d5c56cd5664b0aa1f7fd3bdfd957506380d640c4132c3a668811391206397e8","5df5fdb200f0b15cb05bdf3e915ab1a21035ce2cdb9a58482cddc8071dbea622","69c9f79b58a7773d9c379740b567bf011949df0baaac014118155e1aab34fe1f","6d88c64ddab4f31ed3c7237a36ee6dab3d3e7d637719f702d459179ec77c1539","6e19765f3e7b4d02eb89dbd238b5db7415ed10c7bd9cbe8355e684fb4607c32d","6f08e2e1f7a8c3536ab8680a7ea736a4d1170adeaace33f7d3f822c2172d9a88","7274c8da52c2347682f8802a141168f7413587f1da515a3c27e259288d2d0823","73d2338428968572f0ca53420c15a8f31cee851495d6fc7d87bf6c144f849d44","7b76e5932412eb2fdc3375c63a63c49330e64956a503eca2c03ca5e7a0bafe6e","8a79138204ab91360aac4ae194c4c035bad682081234ed5d739b89391198648d","8acaa4ec489ef3c471de0ad49566afa0312e473b4b928dc507334bc460aab9dd","8edc8f72bc00888ce14ab7fce52902dc423309ccac3791f17f746a59bc5984be","96e102649355c562c838f22642fbf78f2d04e802cdc85a643c773a706800bec3","985ff892140b3efc05816411b2118a146d4be43718abb448d11c79f8e8779912","9aa4ffd51fa0ac4b0448f61a7a5f23001d6c352c6a39345d7a1393330ae0925e","9d428cbf899f603a86a7c65c412e648fb9675360d6de6a91011c36620bf97b45","a2a7aa930f0797964ee7f53e2dd7981e7d9eaf490f01bb31491741e970e6d22b","a3d86a4fe6530e1202e4cf64eb9a8a18aa9ad763bb5698fcad18d14747e948f0","a533a7db6d05aaeb17821dcaf5c16a1a43205884d85c3ca406faf9ae1a80960d","a5373bdb9813086b6a687cd10fff8182a413364ccbc48c91218b37a238edf3ed","a9d9e206534110ecd75491e503a0305161f8c750b1bda25747d7e50d3f313cdc","acb610c84de7fa17240497da014f7c62f4fdc986a320886d4ee48ba5c66256f0","af3ad596f41d9115060315ef7c1a0b246b61d05b0a82d097dbc4299a2811a7dd","b2d371fde6a1c216ae0e22d88bd864fd22fe2ae0818f01841ae977d0898832fb","b9d5dcd780f902ff2ab12dbdb50313ebed97e78141ed46cbfced76f2bf381968","be5ec723edf3cbdb9d36a55d859fd35381ee3287fc6e5cac6dc9376a071a449f","bf82fb72c962fedf69b3c8ccaeca63bc608707cdb2fb9e194f218416b8911efd","c23873c130717fbafac37eaaf65f72e22b0fa750027e54726e5868e814bd3e18","ca87b27438682235a7997674e98b1aacc9afec1003aced038b1534480be0fc90","cc7d33c84a33603c35e21d54587966d3d6a1c9b1c12e4575d4d2a71d162f0142","d2401a4b5856b00a621d39f8cf3ef1213e18f4a47cff9ea16c0fd60faf6fadf6","d3eb332abd94e2d4eaeb54a5fdf78bae11d975cdd37fd3cd492b75f3018a4b3a","d73ea5b975d66a499efd8747a8f0798dbdbda191a4b4e6d9f1b14941566478b3","dc311fd862f0531449717e737b1f8e8361ca5253bf43d3a59b0d88622fcd8291","dc7d66cd397cfc1c551b865e289ac4a63746b2198e5b984a6d02cf980db14d9e","de0a3f30fc14f5bdebc4b21a2e1ae12a3a7d5c24c096393a5abf1ce4fc11a8eb","e3ee659cd253fda4d88eee680e0e9df75f3a502c54e81f7a4e7b6873a30a107b","e785cc5b60926b87544b820b222b8c94aad3a5ff0fc6a4800e72637d33581949","f0590391ce201dbb66699534ac2320824f937f494d4a779ca940030e2af640be","f25a3be09fb588e7ff493b3e5d41227091ebac82f270aa29c5d5cae26ff895a8","fed10f3033c15d8933356e108a9a7e9a90f44639115e0a942be4f3f27bf1291b"],"recordQualifiers":{},"scopeLabel":"ORPHA:443811","sourceIds":["ORPHA:443811"],"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:0014353/OMIM:615816","MONDO:0014353/ORPHA:443811"],"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":38,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":108,"sourceGroups":{"omim":7,"orphanet":62,"published":39}},"features":[{"hpoId":"HP:0031394","label":"Abnormal CD4:CD8 ratio","primary":false},{"hpoId":"HP:0011400","label":"Abnormal CNS myelination","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0031393","label":"Abnormal total CD8+ T cell number","primary":false},{"hpoId":"HP:0000924","label":"Abnormality of the skeletal system","primary":false},{"hpoId":"HP:0025615","label":"Abscess","primary":false},{"hpoId":"HP:0003193","label":"Allergic rhinitis","primary":false},{"hpoId":"HP:0002616","label":"Aortic root aneurysm","primary":false},{"hpoId":"HP:0002099","label":"Asthma","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0001047","label":"Atopic dermatitis","primary":false},{"hpoId":"HP:0001904","label":"Autoimmune neutropenia","primary":false},{"hpoId":"HP:0002960","label":"Autoimmunity","primary":false},{"hpoId":"HP:0005528","label":"Bone marrow hypocellularity","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0002110","label":"Bronchiectasis","primary":false},{"hpoId":"HP:0000389","label":"Chronic otitis media","primary":false},{"hpoId":"HP:0011109","label":"Chronic sinusitis","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:0040148","label":"Cortical myoclonus","primary":false},{"hpoId":"HP:0031292","label":"Cutaneous abscess","primary":false},{"hpoId":"HP:0031402","label":"Decreased antigen-specific T cell proliferation","primary":false},{"hpoId":"HP:0032218","label":"Decreased total CD4+ T cell proportion","primary":false},{"hpoId":"HP:0001882","label":"Decreased total leukocyte count","primary":false},{"hpoId":"HP:0001888","label":"Decreased total lymphocyte count","primary":false},{"hpoId":"HP:0001875","label":"Decreased total neutrophil count","primary":false},{"hpoId":"HP:0005403","label":"Decreased total T cell count","primary":false},{"hpoId":"HP:0200101","label":"Decreased/absent ankle reflexes","primary":false},{"hpoId":"HP:0410323","label":"Drug allergy","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0000964","label":"Eczematoid dermatitis","primary":false},{"hpoId":"HP:0010783","label":"Erythema","primary":false},{"hpoId":"HP:0002043","label":"Esophageal stricture","primary":false},{"hpoId":"HP:0100633","label":"Esophagitis","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0500093","label":"Food allergy","primary":false},{"hpoId":"HP:0002020","label":"Gastroesophageal reflux","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001878","label":"Hemolytic anemia","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0012189","label":"Hodgkin lymphoma","primary":false},{"hpoId":"HP:0007083","label":"Hyperactive patellar reflex","primary":false},{"hpoId":"HP:0001265","label":"Hyporeflexia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002721","label":"Immunodeficiency","primary":false},{"hpoId":"HP:0003261","label":"Increased circulating IgA concentration","primary":false},{"hpoId":"HP:0003212","label":"Increased circulating IgE concentration","primary":false},{"hpoId":"HP:0003237","label":"Increased circulating IgG concentration","primary":false},{"hpoId":"HP:0003496","label":"Increased circulating IgM concentration","primary":false},{"hpoId":"HP:0001880","label":"Increased total eosinophil count","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0004789","label":"Lactose intolerance","primary":false},{"hpoId":"HP:0002665","label":"Lymphoma","primary":false},{"hpoId":"HP:0000793","label":"Membranoproliferative glomerulonephritis","primary":false},{"hpoId":"HP:0008587","label":"Mild neurosensory hearing impairment","primary":false},{"hpoId":"HP:0011343","label":"Moderate global developmental delay","primary":false},{"hpoId":"HP:0002342","label":"Moderate intellectual disability","primary":false},{"hpoId":"HP:0001336","label":"Myoclonus","primary":false},{"hpoId":"HP:0045025","label":"Narrow palpebral fissure","primary":false},{"hpoId":"HP:0002754","label":"Osteomyelitis","primary":false},{"hpoId":"HP:0020072","label":"Persistent EBV viremia","primary":false},{"hpoId":"HP:0002718","label":"Recurrent bacterial infections","primary":false},{"hpoId":"HP:0002841","label":"Recurrent fungal infections","primary":false},{"hpoId":"HP:0002719","label":"Recurrent infections","primary":false},{"hpoId":"HP:0002728","label":"Recurrent mucocutaneous candidiasis","primary":false},{"hpoId":"HP:0006532","label":"Recurrent pneumonia","primary":false},{"hpoId":"HP:0002205","label":"Recurrent respiratory infections","primary":false},{"hpoId":"HP:0001581","label":"Recurrent skin infections","primary":false},{"hpoId":"HP:0007499","label":"Recurrent staphylococcal infections","primary":false},{"hpoId":"HP:0002726","label":"Recurrent Staphylococcus aureus infection","primary":false},{"hpoId":"HP:0004429","label":"Recurrent viral infections","primary":false},{"hpoId":"HP:0040218","label":"Reduced total natural killer cell count","primary":false},{"hpoId":"HP:0002923","label":"Rheumatoid factor positive","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0100806","label":"Sepsis","primary":false},{"hpoId":"HP:0004430","label":"Severe combined immunodeficiency","primary":false},{"hpoId":"HP:0032170","label":"Severe varicella zoster infection","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0200042","label":"Skin ulcer","primary":false},{"hpoId":"HP:0003474","label":"Somatic sensory dysfunction","primary":false},{"hpoId":"HP:0032163","label":"Unusual molluscum contagiosum","primary":false},{"hpoId":"HP:0200029","label":"Vasculitis in the skin","primary":false}],"ledeHtml":"PGM3-congenital disorder of glycosylation (PGM3-CDG) is an inherited condition that primarily affects the immune system but can also involve other areas of the body. The pattern and severity of this disorder&#x27;s signs and symptoms typically vary.","mondoId":"MONDO:0014353","records":[{"frequencyKind":"count","key":"016e559e47e21678774c685fdaa2d38e79e486c7a7bc46368b1a2be97d8f48cc","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0002616","is_excluded":false,"label":"Aortic root aneurysm","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"01871eaef75c6bc08f27afbb68491486dea27ab630fcc978efe5a5bd0d74be59","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002960","is_excluded":false,"label":"Autoimmunity","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"01a9e341d55b9020c6b78ad6e401292f7b6204242dba898714ca7f82ab9c5190","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0045025","is_excluded":false,"label":"Narrow palpebral fissure","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"02b3790d2a0d6eb76613379d0a8bb82033bd9a2773740eb1b4dc49bc92434538","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003261","is_excluded":false,"label":"Increased circulating IgA concentration","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"031ace16c4a9da15cca1fc0600e97b70be1227712842abbc333354abc84e37ee","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0569f525aa21e47a2c6b11d3233e0a531466975f1f3c80de604c96dfcd87d978","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001336","is_excluded":false,"label":"Myoclonus","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"064e401a46ec59d0e9f6f1878437da69c1fd4b63a0cfbdb07b98c7149053dbac","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0031292","is_excluded":false,"label":"Cutaneous abscess","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0fe3808d1ade7664c807c5df9cd0de2c6d72fe9d6ec70dbb67b743c6dd943a30","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001875","is_excluded":false,"label":"Decreased total neutrophil count","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"14939d8daa35571a0e0cfd65d4fb87d131ace69dd6c2509de74deea1d3302706","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006532","is_excluded":false,"label":"Recurrent pneumonia","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1c5c05b2efc27b5bf9162226c57a56377a8f49f9bc85b4b615586043a354cc1c","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"4/8","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1cdd9841086c858ee93274ba62188795c9ac771d9ef0f0fb46076e7e5a7734b0","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004429","is_excluded":false,"label":"Recurrent viral infections","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1dd34aea80f06413a943592b240dfcd5af131165f83973ae72005e82d1e68d88","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"8/9","hpo_id":"HP:0002726","is_excluded":false,"label":"Recurrent Staphylococcus aureus infection","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1df518df019b8481b28ae6cb509200aff70fe82ae6d05c5d9c40e8826b8767ab","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005528","is_excluded":false,"label":"Bone marrow hypocellularity","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1ecbe629f7b769f28a78db5130a9eb83331f4ad7f1f3e5bfee54fedbf2ef40dd","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008587","is_excluded":false,"label":"Mild neurosensory hearing impairment","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"20a106a06ce538fc14080bf5f84ffc4ca85639f839f9ea78462e933f148b3095","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0001875","is_excluded":false,"label":"Decreased total neutrophil count","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"214cea02a6fca75db4f4d91b2c411f379c5ab4f508ba81a0e0b4818feed9b054","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002665","is_excluded":false,"label":"Lymphoma","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"21ee39021c5d9e0b994c78e34fb2f39a7ed2dafa8eb8c6f773ead3374661a4eb","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"5/8","hpo_id":"HP:0500093","is_excluded":false,"label":"Food allergy","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"22f19e920dff6768edbd89ab1ae6855662e1102b4c5632f7c0df4266527f4e71","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:615816","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"25071b7e21c26ee3220b89ee9e3e2984de56c1015637326cb49beb4c2bff5fbd","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"3/9","hpo_id":"HP:0003237","is_excluded":false,"label":"Increased circulating IgG concentration","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"25e8828e3c785d571fd417d6f69c11c2e3c56e0e4eab8ea50c06ac03783e82ca","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"4/8","hpo_id":"HP:0001336","is_excluded":false,"label":"Myoclonus","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"265d9f0791d0aafa44faef699c71883a5150ab5510af08df2671ce325885e035","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"3/7","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"26c7aaec8a7fb201c184b6ca74b4e2b1681a8e4c0b216985ca016b4f5dfaae0a","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0012189","is_excluded":false,"label":"Hodgkin lymphoma","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"296a7e1993e2cc2bbf2793238b1e7cef00e8349c22d329a4d28274590578a2c9","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0000793","is_excluded":false,"label":"Membranoproliferative glomerulonephritis","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2bd18b7c2f99eda74cb0738aa4c1f3fc1fad46316c6cb13ad462685c86bba520","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001581","is_excluded":false,"label":"Recurrent skin infections","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3010b352e4c87f314847d8a01053872fe8c8a3e621f7ad7d6fa6e96d9f07e64f","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0200042","is_excluded":false,"label":"Skin ulcer","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3153519064551d5555cf1149e0e892144956c892b1242c994aa285c25a27cd53","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"3/9","hpo_id":"HP:0003496","is_excluded":false,"label":"Increased circulating IgM concentration","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"338a647b852aaa5ec9bf485a2ac8208e8273a16556c6cf8e64253c771c751f82","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031394","is_excluded":false,"label":"Abnormal CD4:CD8 ratio","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3b46af0dadc55ce14d65b51d7db0f50829cadd8cbd84d2df13f9df2d73c198c8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007083","is_excluded":false,"label":"Hyperactive patellar reflex","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3d08ef69ca67a5327f83869939b1bc7d0e59419807a473552e698f761838cf5a","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0410323","is_excluded":false,"label":"Drug allergy","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3ea4d4a9df2e31708e4946a3fd75f4baa94220459d3a171d2e1af77889adfc27","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3f79d73d15111f3f1efc6dd42751a7b925789a78b01f81f480436851c0dccad0","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002110","is_excluded":false,"label":"Bronchiectasis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"450b583026a267e98a491019843cfdcf83f770368780240a30b6e535a436a442","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"46e36ee030d0fe5fc50947b2013c46789db485f31709e66658573f2bbeeab1de","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"495e694e0107463a9e1cbb735f90e90775ae807d1e97fe93623973bad651ebd0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000924","is_excluded":false,"label":"Abnormality of the skeletal system","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4da3f48c8a9da40cc8eb86605a07964e18592997e0463c1658a9f59fc081e8f4","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"9/9","hpo_id":"HP:0003212","is_excluded":false,"label":"Increased circulating IgE concentration","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4e3dbeb43ff241177003ddd7a7929480a6a8a403aa48324847c6166b59694d60","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0001878","is_excluded":false,"label":"Hemolytic anemia","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5c9b90e86aef900b8083a6f3f6100a15fd2119f144800274444b5fd354ddf30b","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002719","is_excluded":false,"label":"Recurrent infections","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5d5c56cd5664b0aa1f7fd3bdfd957506380d640c4132c3a668811391206397e8","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001880","is_excluded":false,"label":"Increased total eosinophil count","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5df5fdb200f0b15cb05bdf3e915ab1a21035ce2cdb9a58482cddc8071dbea622","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002841","is_excluded":false,"label":"Recurrent fungal infections","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"69c9f79b58a7773d9c379740b567bf011949df0baaac014118155e1aab34fe1f","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003212","is_excluded":false,"label":"Increased circulating IgE concentration","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6ac3f0fe03ebbdf2767f1905716f334dc63e6fbfe1c940c14ae21c1d4f44373c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"9/15","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:24589341;PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6d88c64ddab4f31ed3c7237a36ee6dab3d3e7d637719f702d459179ec77c1539","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6e19765f3e7b4d02eb89dbd238b5db7415ed10c7bd9cbe8355e684fb4607c32d","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6f08e2e1f7a8c3536ab8680a7ea736a4d1170adeaace33f7d3f822c2172d9a88","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0100633","is_excluded":false,"label":"Esophagitis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"70a83388c9d98028f97bab739d89c73b734f4d1893e9707b372061eac4c0984d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0200029","is_excluded":false,"label":"Vasculitis in the skin","onset_id":null,"reference":"OMIM:615816","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7274c8da52c2347682f8802a141168f7413587f1da515a3c27e259288d2d0823","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001888","is_excluded":false,"label":"Decreased total lymphocyte count","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"73d2338428968572f0ca53420c15a8f31cee851495d6fc7d87bf6c144f849d44","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003193","is_excluded":false,"label":"Allergic rhinitis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"744f65360f84af8f53cb9040b26a1f8e245b4d7b3b314d6f525452ab4476bb05","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0002099","is_excluded":false,"label":"Asthma","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"788d71c13888c7b51c84f015bcab6c0bd29ecc1dd0d2fc2c8a4de7be8b6c32ef","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0002043","is_excluded":false,"label":"Esophageal stricture","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7b76e5932412eb2fdc3375c63a63c49330e64956a503eca2c03ca5e7a0bafe6e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7cb79e79a1ea62d9c185b02eb153e47d0afaa1d762d010a0db6b37f4296f713c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"4/8","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"80405994ede8aa5dd2943b2ec83b91e12e966f699dbde114e7cb16cf3f3b3ac7","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0020072","is_excluded":false,"label":"Persistent EBV viremia","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"80fc7042ef79623c209590d7facb1d6586fa91e593029ca99c6cc3351da0b583","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"OMIM:615816","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"87b835c989e70c4cd3c9fcd543aeaa8432b3236afd4390f600928aa7a2af5e40","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"3/9","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8a20052fd034b9292ff9956f0c32fc3b75e02948c2471938af9b43df77678a9c","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"2/8","hpo_id":"HP:0010783","is_excluded":false,"label":"Erythema","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8a79138204ab91360aac4ae194c4c035bad682081234ed5d739b89391198648d","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004789","is_excluded":false,"label":"Lactose intolerance","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8acaa4ec489ef3c471de0ad49566afa0312e473b4b928dc507334bc460aab9dd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002754","is_excluded":false,"label":"Osteomyelitis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8edc8f72bc00888ce14ab7fce52902dc423309ccac3791f17f746a59bc5984be","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"906a3a74c4669f854ca42566d6f8e6194b38593f7a7b426b5e94f1fd9c43bf31","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"OMIM:615816","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"96e102649355c562c838f22642fbf78f2d04e802cdc85a643c773a706800bec3","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0040218","is_excluded":false,"label":"Reduced total natural killer cell count","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"985ff892140b3efc05816411b2118a146d4be43718abb448d11c79f8e8779912","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9aa4ffd51fa0ac4b0448f61a7a5f23001d6c352c6a39345d7a1393330ae0925e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9cfe578a97d3cb8cf454316e861981678c4d915ba9e7e65fd5d785b85426a70e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003474","is_excluded":false,"label":"Somatic sensory dysfunction","onset_id":null,"reference":"OMIM:615816","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9d428cbf899f603a86a7c65c412e648fb9675360d6de6a91011c36620bf97b45","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000389","is_excluded":false,"label":"Chronic otitis media","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9e201a0326d69e3548db93b97be50fbf31b6e35adb073c8a4c4ffbeaf8bb7d0a","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0025615","is_excluded":false,"label":"Abscess","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9f04ea9b0e8004fbfb971e6fa46abca02b5f2900cd7c097fae8ff98b88ff2a63","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"5/8","hpo_id":"HP:0003193","is_excluded":false,"label":"Allergic rhinitis","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a2a7aa930f0797964ee7f53e2dd7981e7d9eaf490f01bb31491741e970e6d22b","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a2bba4cab276b4aedbc11793e808c4c46f89fc2441846faa5d662c3c0824e7f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"4/8","hpo_id":"HP:0011400","is_excluded":false,"label":"Abnormal CNS myelination","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a3d86a4fe6530e1202e4cf64eb9a8a18aa9ad763bb5698fcad18d14747e948f0","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0032218","is_excluded":false,"label":"Decreased total CD4+ T cell proportion","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a405cc0184d44e289e44a98d6482f7130b5574281d227a6884f94b56529fc0aa","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"5/8","hpo_id":"HP:0007499","is_excluded":false,"label":"Recurrent staphylococcal infections","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a533a7db6d05aaeb17821dcaf5c16a1a43205884d85c3ca406faf9ae1a80960d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0200101","is_excluded":false,"label":"Decreased/absent ankle reflexes","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a5373bdb9813086b6a687cd10fff8182a413364ccbc48c91218b37a238edf3ed","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a654a0161a7f7623db30849ae08ba578facaeb97de3803104a793df1a0fc4b25","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"2/9","hpo_id":"HP:0001888","is_excluded":false,"label":"Decreased total lymphocyte count","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a8ae15aeaa7aafecc86fe6bcc869c46e6fca3f36f6f366107f1b8ba77e005241","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"6/7","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a9d9e206534110ecd75491e503a0305161f8c750b1bda25747d7e50d3f313cdc","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031402","is_excluded":false,"label":"Decreased antigen-specific T cell proliferation","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ab3d22470dce95bb36d0371876212856610686292bfed5d90fde70c5b5c86e90","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"7/9","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"acb610c84de7fa17240497da014f7c62f4fdc986a320886d4ee48ba5c66256f0","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001904","is_excluded":false,"label":"Autoimmune neutropenia","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"af3ad596f41d9115060315ef7c1a0b246b61d05b0a82d097dbc4299a2811a7dd","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002718","is_excluded":false,"label":"Recurrent bacterial infections","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2d371fde6a1c216ae0e22d88bd864fd22fe2ae0818f01841ae977d0898832fb","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b9d5dcd780f902ff2ab12dbdb50313ebed97e78141ed46cbfced76f2bf381968","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001882","is_excluded":false,"label":"Decreased total leukocyte count","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bc57496ead1cf0f1a508db1b63ccb2af3f6c3b104f9c5591af67ada23c6eb4f7","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"9/9","hpo_id":"HP:0001880","is_excluded":false,"label":"Increased total eosinophil count","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"be5ec723edf3cbdb9d36a55d859fd35381ee3287fc6e5cac6dc9376a071a449f","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001047","is_excluded":false,"label":"Atopic dermatitis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bf82fb72c962fedf69b3c8ccaeca63bc608707cdb2fb9e194f218416b8911efd","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003237","is_excluded":false,"label":"Increased circulating IgG concentration","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c139437c8803628d2ceab4111aba5391138fa345d63fd0669f849880d903b298","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"5/17","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"PMID:24589341;PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c2312d476f2546d338ad90d0bc02a60b82e80a1d955ac23d41cf034b069bde6c","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"11/17","hpo_id":"HP:0002110","is_excluded":false,"label":"Bronchiectasis","onset_id":null,"reference":"PMID:24589341;PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c23873c130717fbafac37eaaf65f72e22b0fa750027e54726e5868e814bd3e18","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002923","is_excluded":false,"label":"Rheumatoid factor positive","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca87b27438682235a7997674e98b1aacc9afec1003aced038b1534480be0fc90","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002205","is_excluded":false,"label":"Recurrent respiratory infections","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cc7d33c84a33603c35e21d54587966d3d6a1c9b1c12e4575d4d2a71d162f0142","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011343","is_excluded":false,"label":"Moderate global developmental delay","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ccd9ab984ad22e74df1ae977a0b2b981b1ea5c7fb80a729d9320e647f3a4d2ad","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"4/9","hpo_id":"HP:0002728","is_excluded":false,"label":"Recurrent mucocutaneous candidiasis","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cf869897b30e73995186d7ee6401c96465a52f41e0ca45b6b43b27d8ab58051b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"7/8","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d2401a4b5856b00a621d39f8cf3ef1213e18f4a47cff9ea16c0fd60faf6fadf6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0200029","is_excluded":false,"label":"Vasculitis in the skin","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d3eb332abd94e2d4eaeb54a5fdf78bae11d975cdd37fd3cd492b75f3018a4b3a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d73ea5b975d66a499efd8747a8f0798dbdbda191a4b4e6d9f1b14941566478b3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0040148","is_excluded":false,"label":"Cortical myoclonus","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dc311fd862f0531449717e737b1f8e8361ca5253bf43d3a59b0d88622fcd8291","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011109","is_excluded":false,"label":"Chronic sinusitis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dc3666fb0dfc4ffe01c7308335426383a9ac336c15c0a8a14343bdc514db2fea","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"5/6","hpo_id":"HP:0002923","is_excluded":false,"label":"Rheumatoid factor positive","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dc7d66cd397cfc1c551b865e289ac4a63746b2198e5b984a6d02cf980db14d9e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de0a3f30fc14f5bdebc4b21a2e1ae12a3a7d5c24c096393a5abf1ce4fc11a8eb","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005403","is_excluded":false,"label":"Decreased total T cell count","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"de3992facc83d60b59dcc2189ef607f789b40370eca637f95e0dc257daa174ed","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"9/9","hpo_id":"HP:0002205","is_excluded":false,"label":"Recurrent respiratory infections","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e3ee659cd253fda4d88eee680e0e9df75f3a502c54e81f7a4e7b6873a30a107b","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004430","is_excluded":false,"label":"Severe combined immunodeficiency","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e785cc5b60926b87544b820b222b8c94aad3a5ff0fc6a4800e72637d33581949","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000793","is_excluded":false,"label":"Membranoproliferative glomerulonephritis","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ebb141fcd786cab79bcc17a5343511cf48b48d2497e47878cfa136875e00faa9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0040148","is_excluded":false,"label":"Cortical myoclonus","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f0590391ce201dbb66699534ac2320824f937f494d4a779ca940030e2af640be","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002342","is_excluded":false,"label":"Moderate intellectual disability","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f25a3be09fb588e7ff493b3e5d41227091ebac82f270aa29c5d5cae26ff895a8","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031393","is_excluded":false,"label":"Abnormal total CD8+ T cell number","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f447861f58d7dc62450af498553af22b8ba6b1c0bb3f5f167d53a260d6c63320","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"PCS","frequency_raw":"1/8","hpo_id":"HP:0032163","is_excluded":false,"label":"Unusual molluscum contagiosum","onset_id":null,"reference":"PMID:24589341","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f4ab85a843c8ac9e4b7d392dbb4923f0763dc1c60c48db0084a8167426f4f931","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001265","is_excluded":false,"label":"Hyporeflexia","onset_id":null,"reference":"OMIM:615816","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f4da5edaf4755fe9820577bc7f24ff10609546675ba6ee9b7d0ad26065f73b86","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"IEA","frequency_raw":"1/9","hpo_id":"HP:0032170","is_excluded":false,"label":"Severe varicella zoster infection","onset_id":null,"reference":"PMID:24698316","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"fc9bb80386d06aa9c50c17293a80650653a2db48a36710aadfcaa2dfb0bbb72a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:615816","disease_name":"Immunodeficiency 23","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:615816","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"fed10f3033c15d8933356e108a9a7e9a90f44639115e0a942be4f3f27bf1291b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:443811","disease_name":"PGM3-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002099","is_excluded":false,"label":"Asthma","onset_id":null,"reference":"ORPHA:443811","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation\">PGM3-congenital disorder of glycosylation</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 the PGM3 gene cause PGM3-CDG. This gene provides instructions for making an enzyme called phosphoglucomutase 3 (PGM3). The PGM3 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can perform a wider variety of functions.</p><p>Mutations in the PGM3 gene lead to the production of a PGM3 enzyme with reduced activity. Without a properly functioning enzyme, glycosylation cannot proceed normally. The wide variety of signs and symptoms in PGM3-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for the normal function of many organs and tissues. Immune system proteins are highly dependent on glycosylation to function normally, which likely explains why people with PGM3-CDG have immune deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes PGM3-congenital disorder of glycosylation?"},{"bodyHtml":"<p>Most people with PGM3-CDG have impaired immune function (immune deficiency). Many have a shortage of white blood cells (leukopenia), which normally protect the body from infection. Because affected individuals lack the necessary immune cells to fight off certain bacteria, viruses, and fungi, they are prone to repeated and persistent infections that often occur in the lungs, ears, skin, or gastrointestinal tract. In severe cases of PGM3-CDG, impaired bone marrow function may lead to a decrease in the production of all blood cells, resulting in a condition called bone marrow failure. Affected individuals usually also have allergies, asthma, or an inflammatory skin condition called eczema. People with PGM3-CDG may develop autoimmunity, which occurs when the body attacks its own tissues and organs by mistake. Persistent illness may cause affected children to grow more slowly than other individuals.</p><p>Additionally, people with PGM3-CDG often have abnormally high levels of immune system proteins called antibodies (also known as immunoglobulins), particularly immunoglobulin E (IgE). Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. The effect of abnormal levels of antibodies in PGM3-CDG is unclear.</p><p>People with PGM3-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals have skeletal abnormalities involving the ribs or bones in the hands, feet, or spine. Some people with this condition have distinct facial features, such as a flat or sunken appearance of the middle of the face (midface hypoplasia), small chin (micrognathia), full lips, downturned corners of the mouth, and wide nostrils that open to the front rather than downward. PGM3-CDG can also cause problems in the lungs, gastrointestinal tract, and kidneys.</p><p>Lifespan varies widely in people with PGM3-CDG; some do not survive past infancy while others live into late adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pgm3-congenital-disorder-of-glycosylation","sourceDocuments":[{"name":"PGM3-congenital disorder of glycosylation","reviewed":"2019-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:11.683554+00:00","label":"Causes","pageSha256":"b10e6cde171b216fa6ce6a251374e35479ba9c9e93be419f459c192164d8d03f","sourceUrl":"https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation"}],"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":"PGM3-congenital disorder of glycosylation"},"schemaVersion":1}