{"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:0010100/OMIM:272800","label":"Tay-Sachs disease","mondoId":"MONDO:0010100","onsetQualifier":null,"recordKeys":["1436e77c7d2ef8013c3fc62f45c38d2965f0e2f74099228ed5a56268aed5358b","210f41dbecf52620b59726e945daf16bb05286ee382bda3b0ad524ed569750cf","2453b725ecf12c430491455995592ae0647575580408693a35aca4f1c7614358","273869ca571f417d6477119c171c2b67f9df1a4b1cde1d2c8c4ea71c0a78109a","650b15b130c67426f8bca153805a65b7ccc03746d15331d38cb482a601089619","99ecde8bab81e5a77622ff8167670f1cd67a9ca87751b540bedae8ec8c3e4c7d","9e3fe41e2ef30fac1ec2f5d840d4f655d3fce550c517fa1694fa8f382c5a694a","bf4e47745f02e330f7900cd3ffae480dea04bafce7ecbe58d98592dc152633cd","c1f86fbdee2fb4c52831dac5fee545789b24d0ae8485df342eb2a23f8a4337a3","c6de54bf9657e15228ffb24d2d2ac3f942ed2c4dccf89b1b01e0666da98c5a45","d5839a865443c476a960c1b78033b373fab15f718f95ec4e1cb28a304f944695","ecad2d17bfbfca206fa56e43275a14b22e195a29192b9e48400be4383e6f9512","f3d0c204bb46565a261204cd770573c5ea459bdc2fa9d55f2e1ee60c706bf480","f3e45f286f027b0ce57501446a6981b1b9a776d3a7c9df2eeb3d73cc33ca8869"],"recordQualifiers":{},"scopeLabel":"OMIM:272800","sourceIds":["OMIM:272800"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010100/ORPHA:845","label":"Tay-Sachs disease","mondoId":"MONDO:0010100","onsetQualifier":null,"recordKeys":["00136ceadf2136295e37defea632f1469d9a5e29975c5bd0765dafd06e7908ab","051a36609ad82793545a141bb5c3b27a10e3d448c90a1a95dd2484499f8b7792","0b2b2eedb26a4f4cf0e86c67a0baf99a77c165539de23b62ce9daff2c19f04e5","0c921fc6e70f2ef87c44f636717509fe0214afc6eb56be2877b522e0b030c642","0de16ed625c98a4d84f3437e7515f0d1c766cad28f713aac13b1edb5e9a40eeb","0f45af31d67f7d082319a8a22f16808d31656e6e488b9bb52288b5535d295da2","11bd03d73a2d15c6b8324f5df8d779a3e806a906c90de3108f9a96d79123ef77","1c2017024ff9570a553a2dd8a2378e122b5ff960cd5728db18b1e917293ec8f7","1d6d6cd2cf919f04802b1d40e032dc2d5c0ac3f03136dfb064b2df9b597a11b2","249dfcb8d78baa10d4c2a0894ed964b2c5e17c6bbdd8ba0311a4903dc3d2f70b","27f80cf129bace30a6d4d026f1e89b57fec789a0ff16f115b0c82822cece5ce1","29faeb63daa043ca8ec5e566171220f9bcca32938009def898016a8e36e26e2f","2b38df6c085f0feb2392840e3bb8858fd45068439ad086a8b2c012769d993491","2e2ed303c73504e0ad0a9b5af8132cd02c1515722eacdc73e99b6235eea8b91a","30345e9af35357e94e34dee857cf7a90a497555990b36085c73d4a04f5699b07","33e0870f1a11e8c291f1c4286b6e6bd8b9d3ea4c796379d9e185ec192dec2c09","36abfcec4bd401b6eba64ffe93cd879d63a5d935d10aabad409453b9a28fd90b","39de56dba77c97758d2c697a753ca748f9a56a254c491cd937e826c57a035db8","3b05273be06df255f77e5c3ad8515d5ae39eb226821dd1f12bdb1c1c8ba39928","3ef29b0381185e5673e48bddf69b636a08e4164dad4abbf896684b8d617d7bc6","402d0639090dafac5b83dda3290329c8967b88e3e73d081799969f5ce07a9f20","462d9b307423780d3b6fad02308a167d6379dcab487e6dafd4052fd7bfa55dd7","4c77b0ae296e3e95c77c0b4dede13f33940e2dd54ab8af39bb28cacc897eb8e1","4d58c7a3adbac710690acefc03e756574b4c1394349c1ee51e3bd14221d8a7f6","5cbb49bac9477444c7971bb0f5471e8afff7c0c06c40ae5c4ced9997fbecf08c","5dd4172b5ca7a5693fa153a8aa156cb91839659019e499de3bc3901a38061310","5fd1848331fcb806b33bc2f33dc3be0cac219444431da1db7a05b3ff12bf260c","62a1e548a76239d092dc63693c8542edee5c06423695002445c0b52692947486","652fe6417e8f3ff6598f48df85bf760b5c7a687667a68b2804eacbd4e052c79c","675ffa8c64f372cb8e468e00a439634771c33b86af910d6642474f8f24950215","6a0e4c6b2d066b641f2e2fac5e4dd5ed6c8f1f61a7997601751eaa4464ac8473","807bbbdd0df1b591d2e2f0f95c936aa5e3186e30cb1c3d5b477f3819b8ce69d2","83092de9c5637722c7812d5a01e023d565c35d38f4e86900e157b568b2b84748","83ef5ba9d387b15e9feb9e2599df7991a0309567ed1fef0b9daebf87248d11c3","889a4648055c9fb9fb67873970f0ba568b1af4e7f913def3a220ace7ad46015c","9104b99d461451711fa13cb3e30f1bf9d3a68adfb0ecf80de0b4440a5fbdcff7","97f59ccc30ab780760c33dbbc5eb3b538c8de53a25498d017c6a5423d36f0a61","993384a23585605d9f1121e57491755a62103646791bcca25e8d5801adb7ef8a","9bf1f5c5d11ca6c3e1bce0675ce28f1bb58779365d309fa180f37a5166b4bd6c","9f3fc28b336984877fa037e4a096a34096afb03d6fcb7adecfefae5e59504e49","a2318ec49d3a5ceaeb3c8ae70ea5fb941f06c54e3ace20f4e93bd79dd5bc5816","a5e8cb4ef664cfb54c1669290a56dab1f7d8ef97fc04f30f7e4f5b4ad70d5c67","a79720668b5ca6ea707c5dbc0d297dbad8363ff18f49082fd846eba2016b4646","a837d7f27c2533aeb5342b7bf9dd8f4de899c490e5f27c0685d7d1dbcc60a448","aae888fb5e8b321d056c9ebcbe0d162c27fe66eff06a5254d88fd163448a9d4c","b4d4740be7d7e923db154caa9177f31f514375627b47c82ce836313f1fba6f5d","b555bbe142a7de9f94476054687f8e4c8aac6123fcee7f69ef79f3c2c64e8845","b7803527eff93a41e962ee7786c38e658031ac307578286b4592df7966a25a25","b7a7944351da325f5d12cbd612cbd3534db7e8d31fa4dc84da1be0c645a8ce18","bd41cbcfa01be6c0941c94e8b06729b0b109a351047729ee49fcc05674c817d4","bd95d27a6b42b3cc3f802763b49d53cc572674b17d561686186892176fd461bf","c039afdcec9ec24ce78a2ee19dfeed364974dccf462f6a679427c56b5bc910d2","c1b39dcce6496e3de5d00f0e172b83adf6449adcf6a419b02504ba8a378db9fe","c8948b3f385a427d6783a0d69ec87b78781b15add42a9caf0e0100288f5bb0f9","cf4834f3b2d3afbe288daeb029482537bfbe980757fa93aceec5c1681c7b2ab7","d5ec6d71c9e88bd06f4233af53b64100cd702da0ab33a01d60bf45c9d7b2006b","d85b726531417430696a34360b52681ae91dbd4537ef37fb11bd7a62b73f870d","db6aa2e6e0a6261958acdeffda147edcdbe0605567819094d98b9b3d5ee9a071","dcedf7458fe72542d45b385dafd76aecbd6aa21a395c270a1469cd87fa0c73ba","de8327d55111dfa5b2dc1c6f5d7d2541e8c50b89ebee5a25ba02dad8057276fd","df9d2a2de3c996ba73cc5e7df36ad4fe819a463a904927fda695be7b019b5117","e1796b749c9b56935961c9a99a94c0ed463e456245583c783bcb4efd916a3202","f370d6f40f6f255d80a57e40fe454b25438879f437aeef773413b944edf0faea","f46926eb2906225d1d69c851971b5499eaf8a25cdba42aa46db75ef3cbfa3558","f760d696b355383431394240222ddea110e7ecc3e3081ad266c6c848c33bd0a3","f96737b55b3bf46e7bb9dd3048cce6c7ed13b2434249b1b7e8c41fb26ffb46a3","fb2c7584e34195f3fd0c743d0b59358f58d0ea59741e504744eb0645778e8057","fea6ee8008f2badd0a7f5a597ea5c16c03551f3f2ba2ee8246e70064aadab5c1","fec19201dc6ab48a245a181cb46d7667d7b9b429d486087d5be30c3487e33eb4"],"recordQualifiers":{},"scopeLabel":"ORPHA:845","sourceIds":["ORPHA:845"],"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:0010100/OMIM:272800","MONDO:0010100/ORPHA:845"],"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":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":83,"sourceGroups":{"omim":14,"orphanet":69,"published":0}},"features":[{"hpoId":"HP:0012379","label":"Abnormal circulating enzyme concentration or activity","primary":false},{"hpoId":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","primary":false},{"hpoId":"HP:0000496","label":"Abnormality of eye movement","primary":false},{"hpoId":"HP:0010969","label":"Abnormality of glycolipid metabolism","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0011448","label":"Ankle clonus","primary":false},{"hpoId":"HP:0000739","label":"Anxiety","primary":false},{"hpoId":"HP:0000741","label":"Apathy","primary":false},{"hpoId":"HP:0002835","label":"Aspiration","primary":false},{"hpoId":"HP:0011951","label":"Aspiration pneumonia","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000618","label":"Blindness","primary":false},{"hpoId":"HP:0001272","label":"Cerebellar atrophy","primary":false},{"hpoId":"HP:0010729","label":"Cherry red spot of the macula","primary":false},{"hpoId":"HP:0002312","label":"Clumsiness","primary":false},{"hpoId":"HP:0025013","label":"Decerebrate rigidity","primary":false},{"hpoId":"HP:0000726","label":"Dementia","primary":false},{"hpoId":"HP:0000716","label":"Depression","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0003551","label":"Difficulty climbing stairs","primary":false},{"hpoId":"HP:0002460","label":"Distal muscle weakness","primary":false},{"hpoId":"HP:0008959","label":"Distal upper limb muscle weakness","primary":false},{"hpoId":"HP:0002307","label":"Drooling","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0001310","label":"Dysmetria","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0003333","label":"Elevated circulating beta-hexosaminidase activity","primary":false},{"hpoId":"HP:0002267","label":"Exaggerated startle response","primary":false},{"hpoId":"HP:0002380","label":"Fasciculations","primary":false},{"hpoId":"HP:0002384","label":"Focal impaired awareness seizure","primary":false},{"hpoId":"HP:0002359","label":"Frequent falls","primary":false},{"hpoId":"HP:0004302","label":"Functional motor deficit","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0011471","label":"Gastrostomy tube feeding in infancy","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0002171","label":"Gliosis","primary":false},{"hpoId":"HP:0002283","label":"Global brain atrophy","primary":false},{"hpoId":"HP:0003495","label":"GM2-ganglioside accumulation","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0001433","label":"Hepatosplenomegaly","primary":false},{"hpoId":"HP:0012515","label":"Hip flexor weakness","primary":false},{"hpoId":"HP:0001347","label":"Hyperreflexia","primary":false},{"hpoId":"HP:0001276","label":"Hypertonia","primary":false},{"hpoId":"HP:0007103","label":"Hypointensity of cerebral white matter on MRI","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002540","label":"Inability to walk","primary":false},{"hpoId":"HP:0002311","label":"Incoordination","primary":false},{"hpoId":"HP:0012049","label":"Laryngeal dystonia","primary":false},{"hpoId":"HP:0001377","label":"Limited elbow extension","primary":false},{"hpoId":"HP:0003066","label":"Limited knee extension","primary":false},{"hpoId":"HP:0007340","label":"Lower limb muscle weakness","primary":false},{"hpoId":"HP:0100754","label":"Mania","primary":false},{"hpoId":"HP:0002354","label":"Memory impairment","primary":false},{"hpoId":"HP:0003394","label":"Muscle spasm","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0001336","label":"Myoclonus","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0000980","label":"Pallor","primary":false},{"hpoId":"HP:0007010","label":"Poor fine motor coordination","primary":false},{"hpoId":"HP:0002421","label":"Poor head control","primary":false},{"hpoId":"HP:0002172","label":"Postural instability","primary":false},{"hpoId":"HP:0000826","label":"Precocious puberty","primary":false},{"hpoId":"HP:0004481","label":"Progressive macrocephaly","primary":false},{"hpoId":"HP:0002191","label":"Progressive spasticity","primary":false},{"hpoId":"HP:0002361","label":"Loss of mental and motor skills","primary":false},{"hpoId":"HP:0000709","label":"Psychosis","primary":false},{"hpoId":"HP:0009050","label":"Quadriceps muscle atrophy","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000736","label":"Short attention span","primary":false},{"hpoId":"HP:0003202","label":"Skeletal muscle atrophy","primary":false},{"hpoId":"HP:0009088","label":"Speech articulation difficulties","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0011147","label":"Typical absence seizure","primary":false},{"hpoId":"HP:0031358","label":"Vegetative state","primary":false},{"hpoId":"HP:0002119","label":"Ventriculomegaly","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false}],"ledeHtml":"Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems caused by  the death of nerve cells (neurons) in the brain and spinal cord (central nervous system).","mondoId":"MONDO:0010100","records":[{"frequencyKind":"range","key":"00136ceadf2136295e37defea632f1469d9a5e29975c5bd0765dafd06e7908ab","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002359","is_excluded":false,"label":"Frequent falls","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"051a36609ad82793545a141bb5c3b27a10e3d448c90a1a95dd2484499f8b7792","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011951","is_excluded":false,"label":"Aspiration pneumonia","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0b2b2eedb26a4f4cf0e86c67a0baf99a77c165539de23b62ce9daff2c19f04e5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001336","is_excluded":false,"label":"Myoclonus","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0c921fc6e70f2ef87c44f636717509fe0214afc6eb56be2877b522e0b030c642","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0de16ed625c98a4d84f3437e7515f0d1c766cad28f713aac13b1edb5e9a40eeb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0f45af31d67f7d082319a8a22f16808d31656e6e488b9bb52288b5535d295da2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008959","is_excluded":false,"label":"Distal upper limb muscle weakness","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"11bd03d73a2d15c6b8324f5df8d779a3e806a906c90de3108f9a96d79123ef77","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0025013","is_excluded":false,"label":"Decerebrate rigidity","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1436e77c7d2ef8013c3fc62f45c38d2965f0e2f74099228ed5a56268aed5358b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1c2017024ff9570a553a2dd8a2378e122b5ff960cd5728db18b1e917293ec8f7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1d6d6cd2cf919f04802b1d40e032dc2d5c0ac3f03136dfb064b2df9b597a11b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"210f41dbecf52620b59726e945daf16bb05286ee382bda3b0ad524ed569750cf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2453b725ecf12c430491455995592ae0647575580408693a35aca4f1c7614358","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003495","is_excluded":false,"label":"GM2-ganglioside accumulation","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"249dfcb8d78baa10d4c2a0894ed964b2c5e17c6bbdd8ba0311a4903dc3d2f70b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002540","is_excluded":false,"label":"Inability to walk","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"273869ca571f417d6477119c171c2b67f9df1a4b1cde1d2c8c4ea71c0a78109a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000741","is_excluded":false,"label":"Apathy","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"27f80cf129bace30a6d4d026f1e89b57fec789a0ff16f115b0c82822cece5ce1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0031358","is_excluded":false,"label":"Vegetative state","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"29faeb63daa043ca8ec5e566171220f9bcca32938009def898016a8e36e26e2f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2b38df6c085f0feb2392840e3bb8858fd45068439ad086a8b2c012769d993491","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002460","is_excluded":false,"label":"Distal muscle weakness","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2e2ed303c73504e0ad0a9b5af8132cd02c1515722eacdc73e99b6235eea8b91a","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"30345e9af35357e94e34dee857cf7a90a497555990b36085c73d4a04f5699b07","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002283","is_excluded":false,"label":"Global brain atrophy","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"33e0870f1a11e8c291f1c4286b6e6bd8b9d3ea4c796379d9e185ec192dec2c09","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"36abfcec4bd401b6eba64ffe93cd879d63a5d935d10aabad409453b9a28fd90b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002354","is_excluded":false,"label":"Memory impairment","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"39de56dba77c97758d2c697a753ca748f9a56a254c491cd937e826c57a035db8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000736","is_excluded":false,"label":"Short attention span","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3b05273be06df255f77e5c3ad8515d5ae39eb226821dd1f12bdb1c1c8ba39928","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002267","is_excluded":false,"label":"Exaggerated startle response","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3ef29b0381185e5673e48bddf69b636a08e4164dad4abbf896684b8d617d7bc6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"402d0639090dafac5b83dda3290329c8967b88e3e73d081799969f5ce07a9f20","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"462d9b307423780d3b6fad02308a167d6379dcab487e6dafd4052fd7bfa55dd7","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000826","is_excluded":false,"label":"Precocious puberty","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4c77b0ae296e3e95c77c0b4dede13f33940e2dd54ab8af39bb28cacc897eb8e1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003495","is_excluded":false,"label":"GM2-ganglioside accumulation","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4d58c7a3adbac710690acefc03e756574b4c1394349c1ee51e3bd14221d8a7f6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000739","is_excluded":false,"label":"Anxiety","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5cbb49bac9477444c7971bb0f5471e8afff7c0c06c40ae5c4ced9997fbecf08c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002312","is_excluded":false,"label":"Clumsiness","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5dd4172b5ca7a5693fa153a8aa156cb91839659019e499de3bc3901a38061310","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012515","is_excluded":false,"label":"Hip flexor weakness","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5fd1848331fcb806b33bc2f33dc3be0cac219444431da1db7a05b3ff12bf260c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009088","is_excluded":false,"label":"Speech articulation difficulties","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"62a1e548a76239d092dc63693c8542edee5c06423695002445c0b52692947486","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"650b15b130c67426f8bca153805a65b7ccc03746d15331d38cb482a601089619","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002267","is_excluded":false,"label":"Exaggerated startle response","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"652fe6417e8f3ff6598f48df85bf760b5c7a687667a68b2804eacbd4e052c79c","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001433","is_excluded":true,"label":"Hepatosplenomegaly","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"675ffa8c64f372cb8e468e00a439634771c33b86af910d6642474f8f24950215","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003066","is_excluded":false,"label":"Limited knee extension","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6a0e4c6b2d066b641f2e2fac5e4dd5ed6c8f1f61a7997601751eaa4464ac8473","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000716","is_excluded":false,"label":"Depression","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"807bbbdd0df1b591d2e2f0f95c936aa5e3186e30cb1c3d5b477f3819b8ce69d2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100754","is_excluded":false,"label":"Mania","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"83092de9c5637722c7812d5a01e023d565c35d38f4e86900e157b568b2b84748","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011448","is_excluded":false,"label":"Ankle clonus","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"83ef5ba9d387b15e9feb9e2599df7991a0309567ed1fef0b9daebf87248d11c3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011147","is_excluded":false,"label":"Typical absence seizure","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"889a4648055c9fb9fb67873970f0ba568b1af4e7f913def3a220ace7ad46015c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012696","is_excluded":false,"label":"Abnormal thalamic MRI signal intensity","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9104b99d461451711fa13cb3e30f1bf9d3a68adfb0ecf80de0b4440a5fbdcff7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"97f59ccc30ab780760c33dbbc5eb3b538c8de53a25498d017c6a5423d36f0a61","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003551","is_excluded":false,"label":"Difficulty climbing stairs","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"993384a23585605d9f1121e57491755a62103646791bcca25e8d5801adb7ef8a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004481","is_excluded":false,"label":"Progressive macrocephaly","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"99ecde8bab81e5a77622ff8167670f1cd67a9ca87751b540bedae8ec8c3e4c7d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9bf1f5c5d11ca6c3e1bce0675ce28f1bb58779365d309fa180f37a5166b4bd6c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001310","is_excluded":false,"label":"Dysmetria","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9e3fe41e2ef30fac1ec2f5d840d4f655d3fce550c517fa1694fa8f382c5a694a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002361","is_excluded":false,"label":"Psychomotor deterioration","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9f3fc28b336984877fa037e4a096a34096afb03d6fcb7adecfefae5e59504e49","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a2318ec49d3a5ceaeb3c8ae70ea5fb941f06c54e3ace20f4e93bd79dd5bc5816","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001347","is_excluded":false,"label":"Hyperreflexia","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a5e8cb4ef664cfb54c1669290a56dab1f7d8ef97fc04f30f7e4f5b4ad70d5c67","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002384","is_excluded":false,"label":"Focal impaired awareness seizure","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a79720668b5ca6ea707c5dbc0d297dbad8363ff18f49082fd846eba2016b4646","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009050","is_excluded":false,"label":"Quadriceps muscle atrophy","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a837d7f27c2533aeb5342b7bf9dd8f4de899c490e5f27c0685d7d1dbcc60a448","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aae888fb5e8b321d056c9ebcbe0d162c27fe66eff06a5254d88fd163448a9d4c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002171","is_excluded":false,"label":"Gliosis","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b4d4740be7d7e923db154caa9177f31f514375627b47c82ce836313f1fba6f5d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007010","is_excluded":false,"label":"Poor fine motor coordination","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b555bbe142a7de9f94476054687f8e4c8aac6123fcee7f69ef79f3c2c64e8845","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012379","is_excluded":false,"label":"Abnormal circulating enzyme concentration or activity","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b7803527eff93a41e962ee7786c38e658031ac307578286b4592df7966a25a25","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011471","is_excluded":false,"label":"Gastrostomy tube feeding in infancy","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b7a7944351da325f5d12cbd612cbd3534db7e8d31fa4dc84da1be0c645a8ce18","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004302","is_excluded":false,"label":"Functional motor deficit","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bd41cbcfa01be6c0941c94e8b06729b0b109a351047729ee49fcc05674c817d4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007103","is_excluded":false,"label":"Hypointensity of cerebral white matter on MRI","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bd95d27a6b42b3cc3f802763b49d53cc572674b17d561686186892176fd461bf","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000496","is_excluded":false,"label":"Abnormality of eye movement","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bf4e47745f02e330f7900cd3ffae480dea04bafce7ecbe58d98592dc152633cd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002421","is_excluded":false,"label":"Poor head control","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c039afdcec9ec24ce78a2ee19dfeed364974dccf462f6a679427c56b5bc910d2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001377","is_excluded":false,"label":"Limited elbow extension","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c1b39dcce6496e3de5d00f0e172b83adf6449adcf6a419b02504ba8a378db9fe","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010729","is_excluded":false,"label":"Cherry red spot of the macula","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c1f86fbdee2fb4c52831dac5fee545789b24d0ae8485df342eb2a23f8a4337a3","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002835","is_excluded":false,"label":"Aspiration","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c6de54bf9657e15228ffb24d2d2ac3f942ed2c4dccf89b1b01e0666da98c5a45","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c8948b3f385a427d6783a0d69ec87b78781b15add42a9caf0e0100288f5bb0f9","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010969","is_excluded":false,"label":"Abnormality of glycolipid metabolism","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cf4834f3b2d3afbe288daeb029482537bfbe980757fa93aceec5c1681c7b2ab7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002172","is_excluded":false,"label":"Postural instability","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d5839a865443c476a960c1b78033b373fab15f718f95ec4e1cb28a304f944695","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d5ec6d71c9e88bd06f4233af53b64100cd702da0ab33a01d60bf45c9d7b2006b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000709","is_excluded":false,"label":"Psychosis","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d85b726531417430696a34360b52681ae91dbd4537ef37fb11bd7a62b73f870d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002307","is_excluded":false,"label":"Drooling","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"db6aa2e6e0a6261958acdeffda147edcdbe0605567819094d98b9b3d5ee9a071","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003333","is_excluded":false,"label":"Elevated circulating beta-hexosaminidase activity","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dcedf7458fe72542d45b385dafd76aecbd6aa21a395c270a1469cd87fa0c73ba","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002380","is_excluded":false,"label":"Fasciculations","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de8327d55111dfa5b2dc1c6f5d7d2541e8c50b89ebee5a25ba02dad8057276fd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002311","is_excluded":false,"label":"Incoordination","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"df9d2a2de3c996ba73cc5e7df36ad4fe819a463a904927fda695be7b019b5117","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e1796b749c9b56935961c9a99a94c0ed463e456245583c783bcb4efd916a3202","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003394","is_excluded":false,"label":"Muscle spasm","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ecad2d17bfbfca206fa56e43275a14b22e195a29192b9e48400be4383e6f9512","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000726","is_excluded":false,"label":"Dementia","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f370d6f40f6f255d80a57e40fe454b25438879f437aeef773413b944edf0faea","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012049","is_excluded":false,"label":"Laryngeal dystonia","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f3d0c204bb46565a261204cd770573c5ea459bdc2fa9d55f2e1ee60c706bf480","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010729","is_excluded":false,"label":"Cherry red spot of the macula","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f3e45f286f027b0ce57501446a6981b1b9a776d3a7c9df2eeb3d73cc33ca8869","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:272800","disease_name":"Tay-Sachs disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000980","is_excluded":false,"label":"Pallor","onset_id":null,"reference":"OMIM:272800","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f46926eb2906225d1d69c851971b5499eaf8a25cdba42aa46db75ef3cbfa3558","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002191","is_excluded":false,"label":"Progressive spasticity","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f760d696b355383431394240222ddea110e7ecc3e3081ad266c6c848c33bd0a3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f96737b55b3bf46e7bb9dd3048cce6c7ed13b2434249b1b7e8c41fb26ffb46a3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fb2c7584e34195f3fd0c743d0b59358f58d0ea59741e504744eb0645778e8057","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fea6ee8008f2badd0a7f5a597ea5c16c03551f3f2ba2ee8246e70064aadab5c1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007340","is_excluded":false,"label":"Lower limb muscle weakness","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fec19201dc6ab48a245a181cb46d7667d7b9b429d486087d5be30c3487e33eb4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:845","disease_name":"Tay-Sachs disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:845","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/tay-sachs-disease\">Tay-Sachs disease</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 in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making one part (the alpha subunit) of an enzyme called beta-hexosaminidase A. Beta-hexosaminidase A is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside found in cell membranes.</p><p>HEXA gene variants affect the ability of the beta-hexosaminidase A enzyme to break down GM2 ganglioside. As a result, GM2 ganglioside accumulates to toxic levels, particularly in neurons in the central nervous system. Damage caused by the buildup of GM2 ganglioside leads to the dysfunction and eventual death of these neurons, which causes the signs and symptoms of Tay-Sachs disease.</p><p>HEXA gene variants that eliminate or severely reduce beta-hexosaminidase A enzyme function likely lead to the infantile form of Tay-Sachs disease, and variants that allow some residual enzyme activity tend to cause the juvenile or late-onset form of the condition.</p><p>Because Tay-Sachs disease impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/tay-sachs-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Tay-Sachs disease?"},{"bodyHtml":"<p>The most common form of Tay-Sachs disease, known as infantile Tay-Sachs disease, becomes apparent early in life. Infants with this disorder typically develop normally until they are 3 to 6 months old. During this time, their development slows and muscles used for movement weaken. Affected infants stop achieving normal developmental milestones and begin to lose previously acquired skills such as turning over, sitting, and crawling. Infants with this condition develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience involuntary muscle twitches(myoclonic jerks), seizures, difficulty swallowing (dysphagia),vision and hearing loss, and intellectual disability. An eye abnormality called a cherry-red spot, which is identified by eye examination, is characteristic of this disorder. Children with infantile  Tay-Sachs disease usually live only into early childhood.</p><p>Two other forms of Tay-Sachs disease, known as juvenile and late-onset, are rare. Signs and symptoms of the juvenile form can appear between the ages of 5 years and late adolescence. Features of late-onset Tay-Sachs disease typically appear in adulthood. People with either of these forms of the condition usually have milder and more variable signs and symptoms than those with the infantile form. Characteristic features of juvenile or late-onset Tay-Saches disease include muscle weakness, loss of muscle coordination (ataxia), speech problems, and psychiatric symptoms. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/tay-sachs-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"tay-sachs-disease","sourceDocuments":[{"name":"Tay-Sachs disease","reviewed":"2006-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:25.117772+00:00","label":"Causes","pageSha256":"c1f1fd4cbb3848f671e3e3a6c27222c47d853f7f357e7b48569d12b22da49651","sourceUrl":"https://medlineplus.gov/genetics/condition/tay-sachs-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/tay-sachs-disease"}],"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":"Tay-Sachs disease"},"schemaVersion":1}