{"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:0010028/OMIM:269921","label":"Sialuria","mondoId":"MONDO:0010028","onsetQualifier":null,"recordKeys":["00f167f8d20d84f8b9c0d1c9eedff04bfa8bec7bc671a38cb0c338bbeaf1f622","07d6add7448dc231fd5f3008e647461b1b90f4215d1b47a720ea252ed5886566","0ad0ad15f778c5e999545912c6f8cbe29e1c5bb5f029ec40f21323afb6688130","164900475d862ee80b89f0bcc02b7bd6076d0390900727274e4d71702b50515c","1a6ff07d746a871072174bd0e24173709ad5d2e925e382835703c6092dcba514","1addbe873de78057190dedf794703772efe8dadcfa8753fc4a0437b6c8d8d76c","26382c15f8fa9653aac7d24597456702410e9263e52075e339279d54c6185723","2bca1bbecdb5f8bd9f0b1e1b260d58514789e3315b83e30d580b65e32b521ded","38e00f0add53883aaa818eb82f647e2e4ed8ef734ca3c28dee460068e5ae4f74","3bc7a29c563af9c9dde07f1fcb6e2b11a9a63ff45d6a858cc2918a170e123397","40f2bd680735111a3144125e0aab6623c52359183fc65a453d35a181e3a666f2","46cb5398ad94d5826ccd60304d90ba960a1c04ba51c69445bee7d0b9c906ab1d","4823eb44d5981aaee7a7bdf010e2a3e00ea04fce787f64eb37ae67f7ab1dc44a","482a8863d1ee9b03caa3df9e63e7c3c3eda584c54f7e3752f2052b9320ed94a6","5269f0f5cf5fd62755564e7d04a4e762c1255ff0510aa55f1c72ae7ff70012ac","67aaeb08898748eac386a12a31fb6f19113cb1a76435bb3e2b824397e4b291a7","6a42ec7f81ae118389185896c46e365ae315e5a6006a1ffa4ad4ea78d881cc32","74fc53f154094da63e12c9773b73b22807529104d0dd83e7d6b18eac937da3e4","913350323609edae4f16af8bfa1ca45184f23e3d765d9f77f3735b4d8990e656","96457894b86c2a85ca942bff4950000eb722ba87cf866bffed188f0562006b44","96fc6169e6032208da442a138b24ba6ff77b10d0ad1da515b6d9f901c1c9ea93","996b9370d47b6b26a4956d163fc097bc7c8a0122e44350563aa6a8c52bb2e070","a0403b7c80ef532bd79918e22d5496c279bc5cd5a709f3556a21d84f50e8ea3e","ac1c094c9fd4a9f00d16869b04fc080a20cb08666e0c5648bc5a5d6c41505052","c79a70a125728b03c3a63d64133a9c0e808007fc40e08387c1f97aaa47adc773","c948a09416a668a4e51549eb26204fa0c7643ae5ac6d1299dd9157f2a8d8008a","ce1cd44d5d81c396a3af7fb619496390b7f40a651928029cfceba595a4ad1d85","cf769392c295b50b4055e2b72a8ac1c82760e05588c71ef6e17db307cc6c691e","d365298e23dc9106da7577e212a18649c038cd411f8dcbac5b993aaca286a241","dd86efe95274b019154a0e3108d0a3c173ef059787803e80a328ea2f70632415","de9c00eb0a77fb65190f9e04931201dde3bad8f7b96622aae3a9f4b58f665b7b","e2be673443afb0c3f42d3552c9f8fefa5c272ed294c22a9cfa0d2af38cd22f69","eb601c98b4fe2785edc47f613be01c317764808b5f5d5fd2838ad246ad356d50","eff85a0de4f761d0e203787fbca3abd0dd9629eac5552e29f0d4709ec675f6a4","f312bdfa44057072bc114ef591418f4bcc78108643bdb689d03b68abe57034f8"],"recordQualifiers":{},"scopeLabel":"OMIM:269921","sourceIds":["OMIM:269921"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010028/ORPHA:3166","label":"Sialuria","mondoId":"MONDO:0010028","onsetQualifier":null,"recordKeys":["03fbf153b68d172a151db16f06189e9e85ea8b40f7c543e772615118a5147322","0ae6d9cd71fc50d6fa1f8ff1991acce395c6443bf22c329ac7583d725a408555","0fc739c8a995f690adf6458282276312b5069569dfb1886e9df6108c7e671102","13f6035131748537ecd80df2db512df7ae71f4a84574c89255db05b1504107c2","1577188d3e046348bebf93a854d6d97454b5b4e0f4e228be485e144a73a78437","1f90fc9cca73b4c2f63de9b17e48a2bd635cf1f40b906ed3f38d553d1fbf2d9e","257ff3622ac7f6b432a058627a3bfacb694dda15524aee55577bf85b0fbe4311","2f2436c45d1c4feaccb5a53606618864e7fb0e7a423cc2044cae28c93f49b06d","32ac6875818a15cd1d2e303f55f33182adf7fb40c5feede240e92866fbc07132","417b1fbc125d6e660a5a9a715f6ce2b9d009abe494253557bf67a2b3c25e1101","4864f3091f3aed4c4425ae2f5c54eccc06077233f0a3c0ae9c3a8fece42040f6","4bddc2e55ef2a69e9641a5c98c8cc2461a3d740f44477fb79642438dbb7d11d4","4e18e66102113ddbc5a9ef762311e2cc99697ea1e6522dfe54ba1a9b994e1641","51f3ffa652fbfbd0b97ee00a55c501aac40f5ee501b5094acc78d178d3c550f1","57191d89b26424a275139713d425a5cd5310071ca624f9d4879358c3a9aab83f","725d4961c04130093e4c1054d3c84a04658e91f8cbf686092058671e2bc2b08c","8b1c74508b2da4f1759ee6a3feeb2862bd1068f872dbc40435ef4507d330654d","8f06093e492c01245d1821609927b112d6a160e9a406dbda688f66fa86525e9b","8fa73233b7cec855c7b226bdfa1290bac7c369dcef7b2777ce4951723fe935f0","94b9dad354f22b45793f12e0151f30b018106e6a7c26f567aa2ba53f60bc4c05","9524cb563dddcf8323966810ea92b9db0c5e7b65e0186657d4d3afb6f5e27e31","a06992135994d20f6e2363c19fa5368da000c0e7f8252f8f0ca5e6d47d3a46b9","a7db596fd3b8658f5ba1904e4332314e2b71a021bf3bd6d09eb580a266778993","a8b3948da203cc70ea4f3f222cdbaa8b1edda0e70d846bf83ee9a440c8d77156","b28250b1108dbb8038571b7ee1f6ef5f4c5be1a47786c07a71a3623d8634ee7d","c559d0460a2c2641cc8a4bf4ff6450f4eeab42c90a416fdc06ab53c167b3295e","c6faa59c796044f3d4686698085d70d9914a9c1cbcb8505929f2213b2606923d","cff1e98b791eb3257ee967c3a5b18b472505a77485ff16a19836d19c61850d45","d00ddb307699f15f7a65e1b36733e3efb6d23fbf3d9bf58cd41471827cfcbb21","d1b59faf403b736b177c334182cd1f8080842c667426db874df9c944a8d2fda8","d736f09dbeadd8cbcae9828d31205d906ac4ae55ac511c0a286b8fb428adb794","dcf7fab8151acac51d7e927c184851a0d5ec055aab5875ebd6907457b8163735","dd74d8bc835543cbbcc2d9b7825493a5440ac7d52be7ead3038511d91ef2bd46","e85e7c4be4962da30f7f05eebfb80ad95db1c797b4f2b83ef9ba4a9b126b8521","eab3029b377447f818cc98e2400e7f7d7d6adc4baf26f09d532e815d76267c8a","efdad34f1f767c965494b38407069878ee01123f2ddb4597737e41f7b4f10fd0"],"recordQualifiers":{},"scopeLabel":"ORPHA:3166","sourceIds":["ORPHA:3166"],"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:0010028/OMIM:269921","MONDO:0010028/ORPHA:3166"],"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":11,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":71,"sourceGroups":{"omim":24,"orphanet":36,"published":11}},"features":[{"hpoId":"HP:0004691","label":"2-3 toe syndactyly","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0001939","label":"Abnormality of metabolism/homeostasis","primary":false},{"hpoId":"HP:0012103","label":"Abnormality of the mitochondrion","primary":false},{"hpoId":"HP:0007018","label":"Attention deficit hyperactivity disorder","primary":false},{"hpoId":"HP:0001081","label":"Cholelithiasis","primary":false},{"hpoId":"HP:0000280","label":"Coarse facial features","primary":false},{"hpoId":"HP:0000943","label":"Dysostosis multiplex","primary":false},{"hpoId":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0002574","label":"Episodic abdominal pain","primary":false},{"hpoId":"HP:0002474","label":"Expressive language delay","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0002230","label":"Generalized hirsutism","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001507","label":"Growth abnormality","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0001433","label":"Hepatosplenomegaly","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0002705","label":"High, narrow palate","primary":false},{"hpoId":"HP:0001007","label":"Hirsutism","primary":false},{"hpoId":"HP:0001609","label":"Hoarse voice","primary":false},{"hpoId":"HP:0002487","label":"Hyperkinetic movements","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0002557","label":"Hypoplastic nipples","primary":false},{"hpoId":"HP:0410156","label":"Increased level of N-acetylneuraminic acid in urine","primary":false},{"hpoId":"HP:0000023","label":"Inguinal hernia","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0001847","label":"Long hallux","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0002162","label":"Low posterior hairline","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0000158","label":"Macroglossia","primary":false},{"hpoId":"HP:0002354","label":"Memory impairment","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0008443","label":"Neuropathic spinal arthropathy","primary":false},{"hpoId":"HP:0000629","label":"Periorbital fullness","primary":false},{"hpoId":"HP:0007010","label":"Poor fine motor coordination","primary":false},{"hpoId":"HP:0003645","label":"Prolonged partial thromboplastin time","primary":false},{"hpoId":"HP:0008151","label":"Prolonged prothrombin time","primary":false},{"hpoId":"HP:0011220","label":"Prominent forehead","primary":false},{"hpoId":"HP:0001538","label":"Protuberant abdomen","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0010535","label":"Sleep apnea","primary":false},{"hpoId":"HP:0000319","label":"Smooth philtrum","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0000664","label":"Synophrys","primary":false},{"hpoId":"HP:0000219","label":"Thin upper lip vermilion","primary":false},{"hpoId":"HP:0005257","label":"Thoracic hypoplasia","primary":false},{"hpoId":"HP:0002781","label":"Upper airway obstruction","primary":false},{"hpoId":"HP:0000431","label":"Wide nasal bridge","primary":false}],"ledeHtml":"Sialuria is a rare disorder that affects development. Infants with sialuria are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewhat flat face and distinctive-looking facial features that are described as &quot;coarse.&quot; Temporarily delayed development and weak muscle tone (hypotonia) have also been reported.","mondoId":"MONDO:0010028","records":[{"frequencyKind":"count","key":"00f167f8d20d84f8b9c0d1c9eedff04bfa8bec7bc671a38cb0c338bbeaf1f622","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001007","is_excluded":false,"label":"Hirsutism","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"03fbf153b68d172a151db16f06189e9e85ea8b40f7c543e772615118a5147322","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"07d6add7448dc231fd5f3008e647461b1b90f4215d1b47a720ea252ed5886566","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0ad0ad15f778c5e999545912c6f8cbe29e1c5bb5f029ec40f21323afb6688130","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000023","is_excluded":false,"label":"Inguinal hernia","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0ae6d9cd71fc50d6fa1f8ff1991acce395c6443bf22c329ac7583d725a408555","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001939","is_excluded":false,"label":"Abnormality of metabolism/homeostasis","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0fc739c8a995f690adf6458282276312b5069569dfb1886e9df6108c7e671102","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001847","is_excluded":false,"label":"Long hallux","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"13f6035131748537ecd80df2db512df7ae71f4a84574c89255db05b1504107c2","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003645","is_excluded":false,"label":"Prolonged partial thromboplastin time","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1577188d3e046348bebf93a854d6d97454b5b4e0f4e228be485e144a73a78437","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004691","is_excluded":false,"label":"2-3 toe syndactyly","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"164900475d862ee80b89f0bcc02b7bd6076d0390900727274e4d71702b50515c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1a6ff07d746a871072174bd0e24173709ad5d2e925e382835703c6092dcba514","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1addbe873de78057190dedf794703772efe8dadcfa8753fc4a0437b6c8d8d76c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1f90fc9cca73b4c2f63de9b17e48a2bd635cf1f40b906ed3f38d553d1fbf2d9e","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002910","is_excluded":false,"label":"Elevated circulating hepatic transaminase concentration","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"257ff3622ac7f6b432a058627a3bfacb694dda15524aee55577bf85b0fbe4311","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010535","is_excluded":false,"label":"Sleep apnea","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"26382c15f8fa9653aac7d24597456702410e9263e52075e339279d54c6185723","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0410156","is_excluded":false,"label":"Increased level of N-acetylneuraminic acid in urine","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2bca1bbecdb5f8bd9f0b1e1b260d58514789e3315b83e30d580b65e32b521ded","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2f2436c45d1c4feaccb5a53606618864e7fb0e7a423cc2044cae28c93f49b06d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008443","is_excluded":false,"label":"Neuropathic spinal arthropathy","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"32ac6875818a15cd1d2e303f55f33182adf7fb40c5feede240e92866fbc07132","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008151","is_excluded":false,"label":"Prolonged prothrombin time","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"38e00f0add53883aaa818eb82f647e2e4ed8ef734ca3c28dee460068e5ae4f74","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000158","is_excluded":false,"label":"Macroglossia","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3bc7a29c563af9c9dde07f1fcb6e2b11a9a63ff45d6a858cc2918a170e123397","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"40f2bd680735111a3144125e0aab6623c52359183fc65a453d35a181e3a666f2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005257","is_excluded":false,"label":"Thoracic hypoplasia","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"417b1fbc125d6e660a5a9a715f6ce2b9d009abe494253557bf67a2b3c25e1101","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002354","is_excluded":false,"label":"Memory impairment","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"46cb5398ad94d5826ccd60304d90ba960a1c04ba51c69445bee7d0b9c906ab1d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0000280","is_excluded":false,"label":"Coarse facial features","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4823eb44d5981aaee7a7bdf010e2a3e00ea04fce787f64eb37ae67f7ab1dc44a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"482a8863d1ee9b03caa3df9e63e7c3c3eda584c54f7e3752f2052b9320ed94a6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4864f3091f3aed4c4425ae2f5c54eccc06077233f0a3c0ae9c3a8fece42040f6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001609","is_excluded":false,"label":"Hoarse voice","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4bddc2e55ef2a69e9641a5c98c8cc2461a3d740f44477fb79642438dbb7d11d4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4e18e66102113ddbc5a9ef762311e2cc99697ea1e6522dfe54ba1a9b994e1641","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"51f3ffa652fbfbd0b97ee00a55c501aac40f5ee501b5094acc78d178d3c550f1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5269f0f5cf5fd62755564e7d04a4e762c1255ff0510aa55f1c72ae7ff70012ac","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000629","is_excluded":false,"label":"Periorbital fullness","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"57191d89b26424a275139713d425a5cd5310071ca624f9d4879358c3a9aab83f","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002574","is_excluded":false,"label":"Episodic abdominal pain","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"67aaeb08898748eac386a12a31fb6f19113cb1a76435bb3e2b824397e4b291a7","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6a42ec7f81ae118389185896c46e365ae315e5a6006a1ffa4ad4ea78d881cc32","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"725d4961c04130093e4c1054d3c84a04658e91f8cbf686092058671e2bc2b08c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"74fc53f154094da63e12c9773b73b22807529104d0dd83e7d6b18eac937da3e4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001847","is_excluded":false,"label":"Long hallux","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8b1c74508b2da4f1759ee6a3feeb2862bd1068f872dbc40435ef4507d330654d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8f06093e492c01245d1821609927b112d6a160e9a406dbda688f66fa86525e9b","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002781","is_excluded":false,"label":"Upper airway obstruction","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8fa73233b7cec855c7b226bdfa1290bac7c369dcef7b2777ce4951723fe935f0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002487","is_excluded":false,"label":"Hyperkinetic movements","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"913350323609edae4f16af8bfa1ca45184f23e3d765d9f77f3735b4d8990e656","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002230","is_excluded":false,"label":"Generalized hirsutism","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"94b9dad354f22b45793f12e0151f30b018106e6a7c26f567aa2ba53f60bc4c05","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9524cb563dddcf8323966810ea92b9db0c5e7b65e0186657d4d3afb6f5e27e31","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000629","is_excluded":false,"label":"Periorbital fullness","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"96457894b86c2a85ca942bff4950000eb722ba87cf866bffed188f0562006b44","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"96fc6169e6032208da442a138b24ba6ff77b10d0ad1da515b6d9f901c1c9ea93","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"996b9370d47b6b26a4956d163fc097bc7c8a0122e44350563aa6a8c52bb2e070","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a0403b7c80ef532bd79918e22d5496c279bc5cd5a709f3556a21d84f50e8ea3e","raw":{"aspect":"P","body_system":"breast","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002557","is_excluded":false,"label":"Hypoplastic nipples","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a06992135994d20f6e2363c19fa5368da000c0e7f8252f8f0ca5e6d47d3a46b9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002705","is_excluded":false,"label":"High, narrow palate","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a7db596fd3b8658f5ba1904e4332314e2b71a021bf3bd6d09eb580a266778993","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000280","is_excluded":false,"label":"Coarse facial features","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a8b3948da203cc70ea4f3f222cdbaa8b1edda0e70d846bf83ee9a440c8d77156","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002474","is_excluded":false,"label":"Expressive language delay","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"ac1c094c9fd4a9f00d16869b04fc080a20cb08666e0c5648bc5a5d6c41505052","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"0/3","hpo_id":"HP:0001507","is_excluded":true,"label":"Growth abnormality","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b28250b1108dbb8038571b7ee1f6ef5f4c5be1a47786c07a71a3623d8634ee7d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012103","is_excluded":false,"label":"Abnormality of the mitochondrion","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c559d0460a2c2641cc8a4bf4ff6450f4eeab42c90a416fdc06ab53c167b3295e","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001081","is_excluded":false,"label":"Cholelithiasis","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c6faa59c796044f3d4686698085d70d9914a9c1cbcb8505929f2213b2606923d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c79a70a125728b03c3a63d64133a9c0e808007fc40e08387c1f97aaa47adc773","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000219","is_excluded":false,"label":"Thin upper lip vermilion","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c948a09416a668a4e51549eb26204fa0c7643ae5ac6d1299dd9157f2a8d8008a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002162","is_excluded":false,"label":"Low posterior hairline","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ce1cd44d5d81c396a3af7fb619496390b7f40a651928029cfceba595a4ad1d85","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0007010","is_excluded":false,"label":"Poor fine motor coordination","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cf769392c295b50b4055e2b72a8ac1c82760e05588c71ef6e17db307cc6c691e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"cff1e98b791eb3257ee967c3a5b18b472505a77485ff16a19836d19c61850d45","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d00ddb307699f15f7a65e1b36733e3efb6d23fbf3d9bf58cd41471827cfcbb21","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d1b59faf403b736b177c334182cd1f8080842c667426db874df9c944a8d2fda8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d365298e23dc9106da7577e212a18649c038cd411f8dcbac5b993aaca286a241","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d736f09dbeadd8cbcae9828d31205d906ac4ae55ac511c0a286b8fb428adb794","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dcf7fab8151acac51d7e927c184851a0d5ec055aab5875ebd6907457b8163735","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000943","is_excluded":false,"label":"Dysostosis multiplex","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dd74d8bc835543cbbcc2d9b7825493a5440ac7d52be7ead3038511d91ef2bd46","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001433","is_excluded":false,"label":"Hepatosplenomegaly","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dd86efe95274b019154a0e3108d0a3c173ef059787803e80a328ea2f70632415","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"de9c00eb0a77fb65190f9e04931201dde3bad8f7b96622aae3a9f4b58f665b7b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010535","is_excluded":false,"label":"Sleep apnea","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e2be673443afb0c3f42d3552c9f8fefa5c272ed294c22a9cfa0d2af38cd22f69","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e85e7c4be4962da30f7f05eebfb80ad95db1c797b4f2b83ef9ba4a9b126b8521","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eab3029b377447f818cc98e2400e7f7d7d6adc4baf26f09d532e815d76267c8a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"eb601c98b4fe2785edc47f613be01c317764808b5f5d5fd2838ad246ad356d50","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004691","is_excluded":false,"label":"2-3 toe syndactyly","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"efdad34f1f767c965494b38407069878ee01123f2ddb4597737e41f7b4f10fd0","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:3166","disease_name":"Sialuria","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"ORPHA:3166","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"eff85a0de4f761d0e203787fbca3abd0dd9629eac5552e29f0d4709ec675f6a4","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001538","is_excluded":false,"label":"Protuberant abdomen","onset_id":null,"reference":"OMIM:269921","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f312bdfa44057072bc114ef591418f4bcc78108643bdb689d03b68abe57034f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:269921","disease_name":"Sialuria","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"PMID:10330343","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/sialuria\">Sialuria</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the GNE gene cause sialuria. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including cell movement (migration), the attachment of cells to one another (adhesion), signaling between cells, and inflammation.</p><p>A feedback system helps control the amount of sialic acid produced in cells. This system shuts off the enzyme produced from the GNE gene when no more sialic acid is needed. The variants responsible for sialuria disrupt this feedback mechanism, resulting in an overproduction of sialic acid. This simple sugar builds up within cells and is excreted in urine. Researchers are working to determine how an accumulation of sialic acid in the body interferes with normal development in people with sialuria.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/sialuria/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Sialuria?"},{"bodyHtml":"<p>Young children with sialuria tend to have frequent upper respiratory infections and episodes of dehydration and stomach upset (gastroenteritis). Older children may have seizures and learning difficulties. In some affected children, intellectual development is nearly normal.</p><p>The features of sialuria vary widely among affected people. Many of the problems associated with this disorder appear to improve with age, although little is known about the long-term effects of the disease. It is likely that some adults with sialuria never come to medical attention because they have very mild signs and symptoms or no health problems related to the condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/sialuria\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"sialuria","sourceDocuments":[{"name":"Sialuria","reviewed":"2024-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:59.987354+00:00","label":"Causes","pageSha256":"4c0678d009516a82fa624127572720d411cddd816ab4617f0bbcdddec17a832d","sourceUrl":"https://medlineplus.gov/genetics/condition/sialuria/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/sialuria"}],"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":"Sialuria"},"schemaVersion":1}