{"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:0011338/OMIM:603554","label":"Omenn syndrome","mondoId":"MONDO:0011338","onsetQualifier":null,"recordKeys":["0ce5197d79166ac7cf625140b6a79c3b1d5188af530f5e97b14900fb8ba7e255","0d0fea06a6c16235f730bfd2ee439d6f2e1702a63a6027c89e30c26604f07d48","121fd8730f37304cca0c9cdf30425ef3292838e5ca89ffe9745d4f7c18a7088b","1bedec952e3485eac5efb0dcc2cff6453208512c5c77fa470ccaaeb79171832a","2231ade40a88aa25a8fc77d838f7cf768d82fafe0a801d1e31de1c42510c07e3","280827d0beda49c2fe3de9f07114e19eb7dc3941130b8059ac5ebd34e51c947a","289abde4b5b107c8e9df3d431bb228cc73a1eb73109b0dd3ada004dbc13898c3","2b08178bdc8793afecb94f07cddc08696657bf22c041879f6c365011b8e04d7f","2f6c2a6508043994f91f1e09a7a833637a1202c087fdb7bb8948083785337183","341dfccbecc47affa9863708bb1380254125c1a6289960ce4f13e7071763bf0f","3494451cbf75b8a48c399a4c94280b045cae73622334591a25f422a6cdd4193a","353bdbe27356cc36cf658c8adfe1db28daa82c501355958ec13d2e4dbbbe8fe5","36238585133e93f4c0074c6462432e0f394780cd4acf52c3fcaf6a94fdb5db12","39306d82961ed9a13ec64e46fe6fb0f284e52f55db70f75aef3b8ba6260b3c3a","3deda8e6572c6f54a4b466895a64f0ac68f97fc1ec9f30283fa04787ca4fe382","42556b035fec2528c638a587a64746d7f6a9b95946d6a1d6fb2f599e97fefa4b","42bd343299be4e22e4e77338e1e99fb012eab6f5620b741a3ab62368e9a66998","4e4d0ca65abd16631d444084a05fe0ca4b6028e9267e3db186e95ea16b8317eb","4ef855d82ee7edf42951ebf45deaf9df05f095c16f14b7719fea5adbfbe71277","4f19a85fd55229e822d54abf233af3c5f898078c56cdce18859f1bde3a218b9d","535a1766237c885b124377173fef67e3853d7396768cb7a251d6f0ff99f98603","562ee8576d9fe00f35172b7540679bbe002fd6a2bb68547a68bda8c2f3b33d44","5c803ab254126198bc0d915fb696191202df57663f15fa5d1c46f1d56b8b2cba","5ccb1599f843e5cc29ae4da908c3b9a971cc92410d837dbe13924ac8696928af","655ef1fbf041a6fc9492c59913432b75a409878be1dc6d02c953355c2d21b8ee","6601efdac86e4302d481b3bc237d9f09741117908c6b3902aedb37ff8f3483e7","661658fe50ec945e311139c9ea43b4544679a8e7e1823f329e7ca4fda4608a74","67d935d0384aa63d74768c4e5ebd23a5e1e7ed44029e9bba62091fbed715669d","694d511fa2f85b34c01cea9550234aba55ee51a0acf5aa833c140b2a75f0a2b0","6c54907f03cb7e70241836ee0612bd5011b04f864e07f4c510a8709d9e969c4b","6d68e97460980c12cf236b2db8ebbc4319bb33567746a63abe71e4c6c2db73e5","6dabe0ecd4a02ec5cdbe0a261d75876f7268412da8ee63c51e060b41631f0247","7272c5d15f32eeb50618ed687fae1bc8387268b985a74f6434bdb89866f8fc00","79f9ec6299c415faea245e7b6ae846725845f6e3feb68a0c62f8e9a2f599a627","7d4d29842c613cc6de9934a710d65b8d506bb1afe327b6934b1148cc5ca9054f","7ec0bec54c4071af1716f162d6de4934edf8f7a7b8e5aa77c6243a321617f7b9","82a72df08e66fce59d1db197a32029373f747554d31d0740b28df1f37780c3af","85d39c1ee3b64b30fcc6836f1e731321a609032a52d60daf960ff968df08e624","88ce62ae2e1acb6e917ff2bc6bb96edcf314bd395ed0980a8fe1f5081250b8f4","89c94669a9e4223f70e3bb34df294a8414bbcd76a59d981ca844304a2c6783be","8fe7e67215d7cec69f750dee443d2b3b30cd6db326b919d8b057bb4cc7ab4e59","9106a0f6aac9ffd5f60f41135822a0b4f2ab52957834f314c8cfc63cc3873fe6","919c908daf790701d00b0cedbe106b08ff3744334ec766751f027adf8dde1604","94b363b995d931c554e4b539cc1d929311dbfea2284765c6be36970ba0763fd3","95a7b8a84ade69077b70f10ecbbe1db27ad08e493acc9c6c866aa648b38d8272","98cb814ae075487c4376fa82956461fe77bc7934963a462e87baced2c3bdff0e","9a37da9be855418dbd6371f6688f175c0ad0de0079e0c94857790fa729ad0460","9aa8812fd458a1c8e7fbe60d52694e8b88f16f771e8afac4b66a1a3a9c2be788","9cfd0f45759ba7135f6125279dd834e1134e15695e147d192cbcca61fe47ab7b","9ddb6d345d1a4d780eb8646295dac686a9e7723da1f99f3b8f060b5fec30f976","a692b206aca4dd45c730e5acbb84f838a8d4f3534123ff7996bdc1050143bcc4","a90bfeb2836f6c1393332dedc1a4d8a726ccc66b41e6558300b7fccfab28694b","a985cd3d260cc5ccf3ab46969d6b3f826f1679fc28c1ae871c4af1d400a591c9","aee928026b9b051b04f773bbb15ca5f82ed41e731efc925449fe114c0b231117","b0be4f1d0aafbb7f2fbfc14706e160e5a7102c050736b76e40f8b109a78604a2","b139be65512653dd4f8703e8f4925b0e64be70d3c3c5e2f9b2335b88fee1cb98","b6c9d270329a9848a6911248253ef2492ff43d347c100d080258b56587803489","b844fb238809cfc49b3cd0e7c95fd0c5640e4b5b3ce31e14a1163c788465f276","b9247e08bb53e60e21c102beb169f3e28f256f0b22da5e56c4ba4ffad632e679","b9c7f3836d70d6fadfcad5057e25b4fcca9d61672d38435056b405bf83ac215b","ba399920737d5c22f029dc416ddeca94cd31b7f3247be2aabe3ca5386ba35996","be5dbf861747ccd6d85d38534dae857151fcd0c9e95191df2db4850c41e6a1d8","c03bcddd6fc89a5bb376b9d75e02235f0d7dcbd7ad53f0af025a1d963ea2cc15","c8d3ff944cdc0a86353a20c0293ee1d145bee98fdfe78075bae3f98c0a30e01a","cb398f74555f54d5207cbe6966a1f22eb1624bd77b3a6fc4482e02da1d8e1063","cb5c293628e742bc896837634d5c0a77c707ff80cd9269a6cc300eb5167e7029","cd8b65c38046170f5f0cb526621503a082c5bce55445b455c27142f0803df3af","cd8dc1fed0573bec83e6eaa331a12e5f4a17173160b8dfdcdbf76cda3dd5911a","d1ac76e367a62241511bbefd85a5e03e67b3d3e56c757bf73020b794fe9ae0a3","d6c7ee5fe4473e4ba80a70bc8a3ce33f6f267163357bc66655b73e0e138a5202","d9df11ed3ceae8df7200f5632ef6126efc0d42cf52562e823429134c17d23b91","dc4c61421ed0ad44238ecfb8541150e124953f48b55b5a2e9214df8310d4bb0b","de1b0622ade8f2c30fb0faf311b428ff864a896b8e0e526417daa5bfb6ce3a38","e028adda47de6280afbcbcea7bc5f2bb50658ea87cec01af4eb2128495d1fe72","e567db1f90207b45e1fd5db26593d1363248e1e423f1791e5c167caa14aa70c0","e5b93f2b348d813631e88da7cab52104d5147755b7f15f01e22d50e7a88959c9","fa437b700acad06edc01d67860367c93f87f5e43f9efdce54b6b05bfaa0cda9d","fd8b3d6f9819aea8fe4183799743c5127ec4fe9db73e7b8b99784447cde155cb"],"recordQualifiers":{},"scopeLabel":"OMIM:603554","sourceIds":["OMIM:603554"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011338/ORPHA:39041","label":"Omenn syndrome","mondoId":"MONDO:0011338","onsetQualifier":null,"recordKeys":["0f9861464aace87312607088931a557bb6e17d4072ca7c9f4423a16baedb2484","15a9211a2bfe1b6504080932cb665c61c323db01bf05e8005d04c26e96375a0a","15c8f0d88c9fe27af76758a5829cd8015faf03c882c9ec87a86a4f9cd9c425d9","224db9378105ae29ad8d720339d324e87f0adb0a11be0510d46b7b530a18780e","23d6bb4776f1b06d712c34924d8b70e2943385144ec8a95938ef469154e78a7c","23f40d65aa8d912634821dc247ff7f59a24df8f78d6339078fecbba12414a467","52c6f2447539f1884af9bcf0d3eabfe2675c492fa5eb80f5f5265754f484c493","578ba114217b97b860e59544e6b3088c1bd4adb60e9f77ee585a87e36b120e31","57e723a994c1de4404983f5c607522cde8e33e0d6a9348441a763d71959e233c","5fc3e79eb1371c6f95c7b27d56c5acedc530a68ffd0ffcaa41787ccaafc5cc2b","5fc44c0c33452dcedfa56798178651426dc084ea85c464a62e6a1c11bde589cd","6d5b4348f2beb32f1a0cb3e8b3a8d76083570645fe22f36f39282c6ad8bd7f5d","6ed61e5ab8e35748ce9d8eed1880b60b2780c30f445925ea326e4d8ca35d7d3c","77c1f3c80380a569af15b8f031125c7c1e21351bacb481a6c958cab20101012e","8d78a1415f33753ffec391ce7841128918f09e3603ac26ecf09cbf1a9e59cd14","9906f320be46db235b2bd3f96ac312aef466fb2376589e668459c778743e1ef6","9c353e7a53aa964e0b790b9701192465101ad74a75aebe7ace24a0f8e85bb948","a1e3c7c56a0b94da7514d0712074a57d047dcca3d7935de1c944cf529a4fde36","a36bfb219c2cc5809420f5d827ad4174bdb88dc24d138df4f1543a67de6fb5c3","b1a3d6466f559b894bb2dd6ba88b813bbb8c9896e1774e56fd48577bf8ef70b2","b4a4492ca6ded80bfccb9ad08a677184d0e0da0cfa3abf9d8fc948f32e315a6e","bc40f7fdc4f7df999f7e30dfbb7a35f27325a3d2d594aecbc0c8388f09a8ec97","c14a6b78f0a889a8d4adb37294c1781a3708e3dba3b45288a038e59a8b437f3e","c5b75d4f6f0f540079cb5e3a7fc02a1e4eee3fac7e400df595f6be08154e069f","c91afdb5fe99eb2f0f09fb1f945aa6500e680071caf3295589515bf634d8b600","dae8bf2e450c8ebe6f5b8516e37ddaa97218806167091afa9f5a4234fc4283b7","dedf9e7e70574a3c080a83ce73cab8740fde8c5f0a3aa6af99140d5c50fcf88d","f0419aee453b43fc0a13e9c6a171957f924ff2e757def80c51900a072319aa8c"],"recordQualifiers":{},"scopeLabel":"ORPHA:39041","sourceIds":["ORPHA:39041"],"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:0011338/OMIM:603554","MONDO:0011338/ORPHA:39041"],"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":69,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":106,"sourceGroups":{"omim":9,"orphanet":28,"published":69}},"features":[{"hpoId":"HP:0004332","label":"Abnormal lymphocyte morphology","primary":false},{"hpoId":"HP:0000944","label":"Abnormal metaphysis morphology","primary":false},{"hpoId":"HP:0040089","label":"Abnormal total natural killer cell count","primary":false},{"hpoId":"HP:0011839","label":"Abnormal total T cell number","primary":false},{"hpoId":"HP:0030252","label":"Absent circulating B cells","primary":false},{"hpoId":"HP:0025805","label":"Absent circulating T cells","primary":false},{"hpoId":"HP:0002223","label":"Absent eyebrow","primary":false},{"hpoId":"HP:0000561","label":"Absent eyelashes","primary":false},{"hpoId":"HP:0040219","label":"Absent natural killer cells","primary":false},{"hpoId":"HP:0004432","label":"Agammaglobulinemia","primary":false},{"hpoId":"HP:0001596","label":"Alopecia","primary":false},{"hpoId":"HP:0002293","label":"Alopecia of scalp","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0005359","label":"Aplasia of the thymus","primary":false},{"hpoId":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","primary":false},{"hpoId":"HP:0002960","label":"Autoimmunity","primary":false},{"hpoId":"HP:0034752","label":"Axillary lymphadenopathy","primary":false},{"hpoId":"HP:0031864","label":"Bacteremia","primary":false},{"hpoId":"HP:0002299","label":"Brittle hair","primary":false},{"hpoId":"HP:0025289","label":"Cervical lymphadenopathy","primary":false},{"hpoId":"HP:0002028","label":"Chronic diarrhea","primary":false},{"hpoId":"HP:0410295","label":"Complete or near-complete absence of specific antibody response to tetanus vaccine","primary":false},{"hpoId":"HP:0007381","label":"Congenital exfoliative erythroderma","primary":false},{"hpoId":"HP:0012229","label":"CSF pleocytosis","primary":false},{"hpoId":"HP:0031382","label":"Decreased anti-CD3/28-induced T-cell proliferation","primary":false},{"hpoId":"HP:0002720","label":"Decreased circulating IgA concentration","primary":false},{"hpoId":"HP:0004315","label":"Decreased circulating IgG concentration","primary":false},{"hpoId":"HP:0032139","label":"Decreased circulating isohemagglutinin concentration","primary":false},{"hpoId":"HP:0410378","label":"Decreased naive CD4+ T cell proportion","primary":false},{"hpoId":"HP:0010976","label":"Decreased total B cell count","primary":false},{"hpoId":"HP:0005415","label":"Decreased total CD8+ T cell proportion","primary":false},{"hpoId":"HP:0001875","label":"Decreased total neutrophil count","primary":false},{"hpoId":"HP:0007549","label":"Desquamation of skin soon after birth","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0000958","label":"Dry skin","primary":false},{"hpoId":"HP:0000964","label":"Eczematoid dermatitis","primary":false},{"hpoId":"HP:0000969","label":"Edema","primary":false},{"hpoId":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","primary":false},{"hpoId":"HP:0032022","label":"Eosinophilic dermal infiltration","primary":false},{"hpoId":"HP:0010783","label":"Erythema","primary":false},{"hpoId":"HP:0001019","label":"Erythroderma","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0001945","label":"Fever","primary":false},{"hpoId":"HP:0008940","label":"Generalized lymphadenopathy","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0001433","label":"Hepatosplenomegaly","primary":false},{"hpoId":"HP:0000962","label":"Hyperkeratosis","primary":false},{"hpoId":"HP:0003073","label":"Hypoalbuminemia","primary":false},{"hpoId":"HP:0000778","label":"Hypoplasia of the thymus","primary":false},{"hpoId":"HP:0003075","label":"Hypoproteinemia","primary":false},{"hpoId":"HP:0000821","label":"Hypothyroidism","primary":false},{"hpoId":"HP:0002721","label":"Immunodeficiency","primary":false},{"hpoId":"HP:0025834","label":"Impaired phytohemagglutinin-induced T lymphocyte transformation","primary":false},{"hpoId":"HP:0033221","label":"Increased CD4:CD8 ratio","primary":false},{"hpoId":"HP:0003212","label":"Increased circulating IgE concentration","primary":false},{"hpoId":"HP:0001880","label":"Increased total eosinophil count","primary":false},{"hpoId":"HP:0001974","label":"Increased total leukocyte count","primary":false},{"hpoId":"HP:0100827","label":"Increased total lymphocyte count","primary":false},{"hpoId":"HP:0034751","label":"Inguinal lymphadenopathy","primary":false},{"hpoId":"HP:0002041","label":"Intractable diarrhea","primary":false},{"hpoId":"HP:0002716","label":"Lymphadenopathy","primary":false},{"hpoId":"HP:0002665","label":"Lymphoma","primary":false},{"hpoId":"HP:0001287","label":"Meningitis","primary":false},{"hpoId":"HP:0000100","label":"Nephrotic syndrome","primary":false},{"hpoId":"HP:0031430","label":"Oligoclonal T cell expansion","primary":false},{"hpoId":"HP:0001036","label":"Parakeratosis","primary":false},{"hpoId":"HP:0033399","label":"Persistent fever","primary":false},{"hpoId":"HP:0002090","label":"Pneumonia","primary":false},{"hpoId":"HP:0004385","label":"Protracted diarrhea","primary":false},{"hpoId":"HP:0000989","label":"Pruritus","primary":false},{"hpoId":"HP:0025817","label":"Psoriasiform acanthosis","primary":false},{"hpoId":"HP:0002113","label":"Pulmonary infiltrates","primary":false},{"hpoId":"HP:0200039","label":"Pustule","primary":false},{"hpoId":"HP:0002718","label":"Recurrent bacterial infections","primary":false},{"hpoId":"HP:0001954","label":"Recurrent fever","primary":false},{"hpoId":"HP:0002841","label":"Recurrent fungal infections","primary":false},{"hpoId":"HP:0009098","label":"Recurrent oral thrush","primary":false},{"hpoId":"HP:0001581","label":"Recurrent skin infections","primary":false},{"hpoId":"HP:0004429","label":"Recurrent viral infections","primary":false},{"hpoId":"HP:0040189","label":"Scaling skin","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0100806","label":"Sepsis","primary":false},{"hpoId":"HP:0004430","label":"Severe combined immunodeficiency","primary":false},{"hpoId":"HP:0001831","label":"Short toe","primary":false},{"hpoId":"HP:0000988","label":"Skin rash","primary":false},{"hpoId":"HP:0008070","label":"Sparse hair","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:6001166","label":"Spongiosis","primary":false},{"hpoId":"HP:0020116","label":"Subcutaneous abscess","primary":false},{"hpoId":"HP:0001072","label":"Thickened skin","primary":false},{"hpoId":"HP:0001873","label":"Thrombocytopenia","primary":false},{"hpoId":"HP:0100646","label":"Thyroiditis","primary":false},{"hpoId":"HP:0025811","label":"Trichorrhexis invaginata","primary":false}],"ledeHtml":"Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals to have virtually no immune protection from bacteria, viruses, and fungi. Individuals with SCID are prone to repeated and persistent infections that can be very serious or life-threatening. Infants with Omenn syndrome typically experience pneumonia and chronic diarrhea. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people.","mondoId":"MONDO:0011338","records":[{"frequencyKind":"count","key":"0ce5197d79166ac7cf625140b6a79c3b1d5188af530f5e97b14900fb8ba7e255","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002113","is_excluded":false,"label":"Pulmonary infiltrates","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0d0fea06a6c16235f730bfd2ee439d6f2e1702a63a6027c89e30c26604f07d48","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001873","is_excluded":false,"label":"Thrombocytopenia","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0f9861464aace87312607088931a557bb6e17d4072ca7c9f4423a16baedb2484","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002960","is_excluded":false,"label":"Autoimmunity","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"121fd8730f37304cca0c9cdf30425ef3292838e5ca89ffe9745d4f7c18a7088b","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031382","is_excluded":false,"label":"Decreased anti-CD3/28-induced T-cell proliferation","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"15a9211a2bfe1b6504080932cb665c61c323db01bf05e8005d04c26e96375a0a","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000958","is_excluded":false,"label":"Dry skin","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"15c8f0d88c9fe27af76758a5829cd8015faf03c882c9ec87a86a4f9cd9c425d9","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1bedec952e3485eac5efb0dcc2cff6453208512c5c77fa470ccaaeb79171832a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0025817","is_excluded":false,"label":"Psoriasiform acanthosis","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2231ade40a88aa25a8fc77d838f7cf768d82fafe0a801d1e31de1c42510c07e3","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033399","is_excluded":false,"label":"Persistent fever","onset_id":null,"reference":"PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"224db9378105ae29ad8d720339d324e87f0adb0a11be0510d46b7b530a18780e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000969","is_excluded":false,"label":"Edema","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"23d6bb4776f1b06d712c34924d8b70e2943385144ec8a95938ef469154e78a7c","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002665","is_excluded":false,"label":"Lymphoma","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"23f40d65aa8d912634821dc247ff7f59a24df8f78d6339078fecbba12414a467","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"280827d0beda49c2fe3de9f07114e19eb7dc3941130b8059ac5ebd34e51c947a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0025811","is_excluded":true,"label":"Trichorrhexis invaginata","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"289abde4b5b107c8e9df3d431bb228cc73a1eb73109b0dd3ada004dbc13898c3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0001433","is_excluded":false,"label":"Hepatosplenomegaly","onset_id":null,"reference":"PMID:25849362;PMID:28414192;PMID:19011808;PMID:37269334;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2b08178bdc8793afecb94f07cddc08696657bf22c041879f6c365011b8e04d7f","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0100827","is_excluded":false,"label":"Increased total lymphocyte count","onset_id":null,"reference":"PMID:28414192;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2f6c2a6508043994f91f1e09a7a833637a1202c087fdb7bb8948083785337183","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0010976","is_excluded":false,"label":"Decreased total B cell count","onset_id":null,"reference":"PMID:19011808;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"341dfccbecc47affa9863708bb1380254125c1a6289960ce4f13e7071763bf0f","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"0/1","hpo_id":"HP:0011839","is_excluded":true,"label":"Abnormal total T cell number","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3494451cbf75b8a48c399a4c94280b045cae73622334591a25f422a6cdd4193a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001019","is_excluded":false,"label":"Erythroderma","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"353bdbe27356cc36cf658c8adfe1db28daa82c501355958ec13d2e4dbbbe8fe5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002041","is_excluded":false,"label":"Intractable diarrhea","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"36238585133e93f4c0074c6462432e0f394780cd4acf52c3fcaf6a94fdb5db12","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002841","is_excluded":false,"label":"Recurrent fungal infections","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"39306d82961ed9a13ec64e46fe6fb0f284e52f55db70f75aef3b8ba6260b3c3a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001072","is_excluded":false,"label":"Thickened skin","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3deda8e6572c6f54a4b466895a64f0ac68f97fc1ec9f30283fa04787ca4fe382","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002299","is_excluded":false,"label":"Brittle hair","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"42556b035fec2528c638a587a64746d7f6a9b95946d6a1d6fb2f599e97fefa4b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000962","is_excluded":false,"label":"Hyperkeratosis","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"42bd343299be4e22e4e77338e1e99fb012eab6f5620b741a3ab62368e9a66998","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004429","is_excluded":false,"label":"Recurrent viral infections","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4e4d0ca65abd16631d444084a05fe0ca4b6028e9267e3db186e95ea16b8317eb","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000778","is_excluded":false,"label":"Hypoplasia of the thymus","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"4ef855d82ee7edf42951ebf45deaf9df05f095c16f14b7719fea5adbfbe71277","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001880","is_excluded":false,"label":"Increased total eosinophil count","onset_id":null,"reference":"PMID:25849362;PMID:19011808;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4f19a85fd55229e822d54abf233af3c5f898078c56cdce18859f1bde3a218b9d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008070","is_excluded":false,"label":"Sparse hair","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"52c6f2447539f1884af9bcf0d3eabfe2675c492fa5eb80f5f5265754f484c493","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"535a1766237c885b124377173fef67e3853d7396768cb7a251d6f0ff99f98603","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004432","is_excluded":false,"label":"Agammaglobulinemia","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"562ee8576d9fe00f35172b7540679bbe002fd6a2bb68547a68bda8c2f3b33d44","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0410295","is_excluded":false,"label":"Complete or near-complete absence of specific antibody response to tetanus vaccine","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"578ba114217b97b860e59544e6b3088c1bd4adb60e9f77ee585a87e36b120e31","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100646","is_excluded":false,"label":"Thyroiditis","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"57e723a994c1de4404983f5c607522cde8e33e0d6a9348441a763d71959e233c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001072","is_excluded":false,"label":"Thickened skin","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5c803ab254126198bc0d915fb696191202df57663f15fa5d1c46f1d56b8b2cba","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001954","is_excluded":false,"label":"Recurrent fever","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5ccb1599f843e5cc29ae4da908c3b9a971cc92410d837dbe13924ac8696928af","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5fc3e79eb1371c6f95c7b27d56c5acedc530a68ffd0ffcaa41787ccaafc5cc2b","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001019","is_excluded":false,"label":"Erythroderma","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5fc44c0c33452dcedfa56798178651426dc084ea85c464a62e6a1c11bde589cd","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000100","is_excluded":false,"label":"Nephrotic syndrome","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"655ef1fbf041a6fc9492c59913432b75a409878be1dc6d02c953355c2d21b8ee","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002293","is_excluded":false,"label":"Alopecia of scalp","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6601efdac86e4302d481b3bc237d9f09741117908c6b3902aedb37ff8f3483e7","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:6001166","is_excluded":false,"label":"Spongiosis","onset_id":null,"reference":"PMID:25849362;PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"661658fe50ec945e311139c9ea43b4544679a8e7e1823f329e7ca4fda4608a74","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000561","is_excluded":false,"label":"Absent eyelashes","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"67d935d0384aa63d74768c4e5ebd23a5e1e7ed44029e9bba62091fbed715669d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001581","is_excluded":false,"label":"Recurrent skin infections","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"694d511fa2f85b34c01cea9550234aba55ee51a0acf5aa833c140b2a75f0a2b0","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0003212","is_excluded":false,"label":"Increased circulating IgE concentration","onset_id":null,"reference":"PMID:25849362;PMID:28414192;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6c54907f03cb7e70241836ee0612bd5011b04f864e07f4c510a8709d9e969c4b","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005415","is_excluded":false,"label":"Decreased total CD8+ T cell proportion","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6d5b4348f2beb32f1a0cb3e8b3a8d76083570645fe22f36f39282c6ad8bd7f5d","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002028","is_excluded":false,"label":"Chronic diarrhea","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6d68e97460980c12cf236b2db8ebbc4319bb33567746a63abe71e4c6c2db73e5","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0030252","is_excluded":false,"label":"Absent circulating B cells","onset_id":null,"reference":"PMID:25849362;PMID:28414192;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6dabe0ecd4a02ec5cdbe0a261d75876f7268412da8ee63c51e060b41631f0247","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0025289","is_excluded":false,"label":"Cervical lymphadenopathy","onset_id":null,"reference":"PMID:19011808;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6ed61e5ab8e35748ce9d8eed1880b60b2780c30f445925ea326e4d8ca35d7d3c","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002090","is_excluded":false,"label":"Pneumonia","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7272c5d15f32eeb50618ed687fae1bc8387268b985a74f6434bdb89866f8fc00","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032139","is_excluded":false,"label":"Decreased circulating isohemagglutinin concentration","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"77c1f3c80380a569af15b8f031125c7c1e21351bacb481a6c958cab20101012e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001831","is_excluded":false,"label":"Short toe","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"79f9ec6299c415faea245e7b6ae846725845f6e3feb68a0c62f8e9a2f599a627","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0025834","is_excluded":false,"label":"Impaired phytohemagglutinin-induced T lymphocyte transformation","onset_id":null,"reference":"PMID:25849362;PMID:19011808;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7d4d29842c613cc6de9934a710d65b8d506bb1afe327b6934b1148cc5ca9054f","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0009098","is_excluded":false,"label":"Recurrent oral thrush","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7ec0bec54c4071af1716f162d6de4934edf8f7a7b8e5aa77c6243a321617f7b9","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0000964","is_excluded":false,"label":"Eczematoid dermatitis","onset_id":null,"reference":"PMID:25849362;PMID:28414192;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"82a72df08e66fce59d1db197a32029373f747554d31d0740b28df1f37780c3af","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001974","is_excluded":false,"label":"Increased total leukocyte count","onset_id":null,"reference":"PMID:37269334;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"85d39c1ee3b64b30fcc6836f1e731321a609032a52d60daf960ff968df08e624","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000969","is_excluded":false,"label":"Edema","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"88ce62ae2e1acb6e917ff2bc6bb96edcf314bd395ed0980a8fe1f5081250b8f4","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"PMID:28414192;PMID:19011808;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"89c94669a9e4223f70e3bb34df294a8414bbcd76a59d981ca844304a2c6783be","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"10/11","hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"OMIM:603554;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8d78a1415f33753ffec391ce7841128918f09e3603ac26ecf09cbf1a9e59cd14","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8fe7e67215d7cec69f750dee443d2b3b30cd6db326b919d8b057bb4cc7ab4e59","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0200039","is_excluded":false,"label":"Pustule","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9106a0f6aac9ffd5f60f41135822a0b4f2ab52957834f314c8cfc63cc3873fe6","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"919c908daf790701d00b0cedbe106b08ff3744334ec766751f027adf8dde1604","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003075","is_excluded":false,"label":"Hypoproteinemia","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"94b363b995d931c554e4b539cc1d929311dbfea2284765c6be36970ba0763fd3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012229","is_excluded":false,"label":"CSF pleocytosis","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"95a7b8a84ade69077b70f10ecbbe1db27ad08e493acc9c6c866aa648b38d8272","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0040219","is_excluded":false,"label":"Absent natural killer cells","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"98cb814ae075487c4376fa82956461fe77bc7934963a462e87baced2c3bdff0e","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0025805","is_excluded":false,"label":"Absent circulating T cells","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9906f320be46db235b2bd3f96ac312aef466fb2376589e668459c778743e1ef6","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001974","is_excluded":false,"label":"Increased total leukocyte count","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9a37da9be855418dbd6371f6688f175c0ad0de0079e0c94857790fa729ad0460","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031864","is_excluded":false,"label":"Bacteremia","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9aa8812fd458a1c8e7fbe60d52694e8b88f16f771e8afac4b66a1a3a9c2be788","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002718","is_excluded":false,"label":"Recurrent bacterial infections","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9c353e7a53aa964e0b790b9701192465101ad74a75aebe7ace24a0f8e85bb948","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001945","is_excluded":false,"label":"Fever","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9cfd0f45759ba7135f6125279dd834e1134e15695e147d192cbcca61fe47ab7b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001596","is_excluded":false,"label":"Alopecia","onset_id":null,"reference":"PMID:19011808;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9ddb6d345d1a4d780eb8646295dac686a9e7723da1f99f3b8f060b5fec30f976","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004385","is_excluded":false,"label":"Protracted diarrhea","onset_id":null,"reference":"PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a1e3c7c56a0b94da7514d0712074a57d047dcca3d7935de1c944cf529a4fde36","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007549","is_excluded":false,"label":"Desquamation of skin soon after birth","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a36bfb219c2cc5809420f5d827ad4174bdb88dc24d138df4f1543a67de6fb5c3","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a692b206aca4dd45c730e5acbb84f838a8d4f3534123ff7996bdc1050143bcc4","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002223","is_excluded":false,"label":"Absent eyebrow","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a90bfeb2836f6c1393332dedc1a4d8a726ccc66b41e6558300b7fccfab28694b","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0034751","is_excluded":false,"label":"Inguinal lymphadenopathy","onset_id":null,"reference":"PMID:19011808;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a985cd3d260cc5ccf3ab46969d6b3f826f1679fc28c1ae871c4af1d400a591c9","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010783","is_excluded":false,"label":"Erythema","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"aee928026b9b051b04f773bbb15ca5f82ed41e731efc925449fe114c0b231117","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002090","is_excluded":false,"label":"Pneumonia","onset_id":null,"reference":"PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b0be4f1d0aafbb7f2fbfc14706e160e5a7102c050736b76e40f8b109a78604a2","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003073","is_excluded":false,"label":"Hypoalbuminemia","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b139be65512653dd4f8703e8f4925b0e64be70d3c3c5e2f9b2335b88fee1cb98","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002721","is_excluded":false,"label":"Immunodeficiency","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b1a3d6466f559b894bb2dd6ba88b813bbb8c9896e1774e56fd48577bf8ef70b2","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002716","is_excluded":false,"label":"Lymphadenopathy","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b4a4492ca6ded80bfccb9ad08a677184d0e0da0cfa3abf9d8fc948f32e315a6e","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004430","is_excluded":false,"label":"Severe combined immunodeficiency","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b6c9d270329a9848a6911248253ef2492ff43d347c100d080258b56587803489","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001036","is_excluded":false,"label":"Parakeratosis","onset_id":null,"reference":"PMID:28414192;PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b844fb238809cfc49b3cd0e7c95fd0c5640e4b5b3ce31e14a1163c788465f276","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0034752","is_excluded":false,"label":"Axillary lymphadenopathy","onset_id":null,"reference":"PMID:28414192;PMID:19011808;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b9247e08bb53e60e21c102beb169f3e28f256f0b22da5e56c4ba4ffad632e679","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0031430","is_excluded":false,"label":"Oligoclonal T cell expansion","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b9c7f3836d70d6fadfcad5057e25b4fcca9d61672d38435056b405bf83ac215b","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ba399920737d5c22f029dc416ddeca94cd31b7f3247be2aabe3ca5386ba35996","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0410378","is_excluded":false,"label":"Decreased naive CD4+ T cell proportion","onset_id":null,"reference":"PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bc40f7fdc4f7df999f7e30dfbb7a35f27325a3d2d594aecbc0c8388f09a8ec97","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004332","is_excluded":false,"label":"Abnormal lymphocyte morphology","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"be5dbf861747ccd6d85d38534dae857151fcd0c9e95191df2db4850c41e6a1d8","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000988","is_excluded":false,"label":"Skin rash","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c03bcddd6fc89a5bb376b9d75e02235f0d7dcbd7ad53f0af025a1d963ea2cc15","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0011227","is_excluded":false,"label":"Elevated circulating C-reactive protein concentration","onset_id":null,"reference":"PMID:28414192;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c14a6b78f0a889a8d4adb37294c1781a3708e3dba3b45288a038e59a8b437f3e","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001880","is_excluded":false,"label":"Increased total eosinophil count","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c5b75d4f6f0f540079cb5e3a7fc02a1e4eee3fac7e400df595f6be08154e069f","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c8d3ff944cdc0a86353a20c0293ee1d145bee98fdfe78075bae3f98c0a30e01a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001287","is_excluded":false,"label":"Meningitis","onset_id":null,"reference":"PMID:28414192;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c91afdb5fe99eb2f0f09fb1f945aa6500e680071caf3295589515bf634d8b600","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001596","is_excluded":false,"label":"Alopecia","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cb398f74555f54d5207cbe6966a1f22eb1624bd77b3a6fc4482e02da1d8e1063","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0040189","is_excluded":false,"label":"Scaling skin","onset_id":null,"reference":"PMID:19011808;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cb5c293628e742bc896837634d5c0a77c707ff80cd9269a6cc300eb5167e7029","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"0/3","hpo_id":"HP:0040089","is_excluded":true,"label":"Abnormal total natural killer cell count","onset_id":null,"reference":"PMID:19011808;PMID:37269334;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cd8b65c38046170f5f0cb526621503a082c5bce55445b455c27142f0803df3af","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001875","is_excluded":false,"label":"Decreased total neutrophil count","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cd8dc1fed0573bec83e6eaa331a12e5f4a17173160b8dfdcdbf76cda3dd5911a","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0033221","is_excluded":false,"label":"Increased CD4:CD8 ratio","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d1ac76e367a62241511bbefd85a5e03e67b3d3e56c757bf73020b794fe9ae0a3","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0020116","is_excluded":false,"label":"Subcutaneous abscess","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d6c7ee5fe4473e4ba80a70bc8a3ce33f6f267163357bc66655b73e0e138a5202","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0007381","is_excluded":false,"label":"Congenital exfoliative erythroderma","onset_id":null,"reference":"PMID:25849362;PMID:28414192;PMID:19011808;PMID:37269334;PMID:19830075","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d9df11ed3ceae8df7200f5632ef6126efc0d42cf52562e823429134c17d23b91","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0008940","is_excluded":false,"label":"Generalized lymphadenopathy","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dae8bf2e450c8ebe6f5b8516e37ddaa97218806167091afa9f5a4234fc4283b7","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000989","is_excluded":false,"label":"Pruritus","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dc4c61421ed0ad44238ecfb8541150e124953f48b55b5a2e9214df8310d4bb0b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0032022","is_excluded":false,"label":"Eosinophilic dermal infiltration","onset_id":null,"reference":"PMID:25849362;PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"de1b0622ade8f2c30fb0faf311b428ff864a896b8e0e526417daa5bfb6ce3a38","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0005359","is_excluded":false,"label":"Aplasia of the thymus","onset_id":null,"reference":"PMID:19011808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dedf9e7e70574a3c080a83ce73cab8740fde8c5f0a3aa6af99140d5c50fcf88d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000944","is_excluded":false,"label":"Abnormal metaphysis morphology","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e028adda47de6280afbcbcea7bc5f2bb50658ea87cec01af4eb2128495d1fe72","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004315","is_excluded":false,"label":"Decreased circulating IgG concentration","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e567db1f90207b45e1fd5db26593d1363248e1e423f1791e5c167caa14aa70c0","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"OMIM:603554","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e5b93f2b348d813631e88da7cab52104d5147755b7f15f01e22d50e7a88959c9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:28414192","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f0419aee453b43fc0a13e9c6a171957f924ff2e757def80c51900a072319aa8c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:39041","disease_name":"Omenn syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100840","is_excluded":false,"label":"Aplasia/Hypoplasia of the eyebrow","onset_id":null,"reference":"ORPHA:39041","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fa437b700acad06edc01d67860367c93f87f5e43f9efdce54b6b05bfaa0cda9d","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"PMID:28414192;PMID:37269334","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fd8b3d6f9819aea8fe4183799743c5127ec4fe9db73e7b8b99784447cde155cb","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:603554","disease_name":"Omenn syndrome","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002720","is_excluded":false,"label":"Decreased circulating IgA concentration","onset_id":null,"reference":"PMID:25849362","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/omenn-syndrome\">Omenn syndrome</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 several genes involved in immune system function can cause Omenn syndrome. The two most frequent causes are mutations in the RAG1 and RAG2 genes. These genes provide instructions for making proteins that are active in two types of lymphocytes called B cells and T cells. To help fight infections, B cells and T cells have special proteins on their surface that help them recognize foreign invaders; these proteins must be somewhat different from each other to be able to recognize a wide variety of substances. The RAG1 and RAG2 proteins help increase the diversity of proteins that are on the surface of these cells.</p><p>RAG1 and RAG2 gene mutations that cause Omenn syndrome drastically reduce the respective protein&#x27;s function. As a result, the diversity of proteins on the surface of B cells and T cells is severely limited, impairing the cells&#x27; ability to recognize foreign invaders and fight infections. The abnormal B cells and T cells result in the frequent, life-threatening infections of Omenn syndrome. The decrease in lymphocyte function leads to a reduction in the numbers of B cells. The number of T cells is typically normal, although they are highly similar because they are derived from just a few functional precursor cells. The abnormal T cells attack the body&#x27;s own cells and tissues, accounting for the autoimmune features of Omenn syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/omenn-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Omenn syndrome?"},{"bodyHtml":"<p>In addition to immunodeficiency, children with Omenn syndrome develop autoimmunity, in which the immune system attacks the body&#x27;s own tissues and organs. This abnormal immune reaction can cause very red skin (erythroderma), hair loss (alopecia), and an enlarged liver and spleen (hepatosplenomegaly). In addition, affected individuals have enlargement of tissues that produce infection-fighting white blood cells called lymphocytes. These include the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body.</p><p>If not treated in a way that restores immune function, children with Omenn syndrome usually survive only until age 1 or 2.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/omenn-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"omenn-syndrome","sourceDocuments":[{"name":"Omenn syndrome","reviewed":"2017-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:55.578701+00:00","label":"Causes","pageSha256":"b92a5f1ecbdeccf8981c541b7f5926803f30f1bc62e8d3b26ff56e95807251ee","sourceUrl":"https://medlineplus.gov/genetics/condition/omenn-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/omenn-syndrome"}],"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":"Omenn syndrome"},"schemaVersion":1}