{"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:0010088/OMIM:272200","label":"Multiple sulfatase deficiency","mondoId":"MONDO:0010088","onsetQualifier":null,"recordKeys":["02cd9e425c78ff4d6eda898f8d6b1c8aa9c1661090456a89f7fbac37cee25f0c","09a7e2970beb30011537b23cc694c07b0be90a68884f593a3eaf9a0c7d56b13d","0cff2bd181362d30bb1a7a2f587150d2de9bd63c0527245a8a6120ad25e80e63","0d7c63b9bdc98700a3a13ebc442c9668322aa6b7a6fdd90a1030602613e45b8f","13ba0d537eb4275bf7a84793d2f6d2fbe6243d97f964e82bfdfc5ba5b9186aea","255e435727712e1f848b8bf80a4b4d712d5fa1e68b742ebaba70b4d4bdc4a055","37b428c2c4e1f46f3ffe1343926fae5589d9d908d168359ccbe48dddd45bdc62","402f2efc700ade01534f81d5a95403a2649f08eb1e299f283aee6e47d3e4b4fd","41fd9daf6e26caf5e4f99c1660c6cfe75ee76fd1ec6d5a24bb669d9224e05212","4b62721096cb2346c521103e534875c751b73859e45fa5ee457fe6089bade66d","4f9fdbb8c3548c3ac3cc5257af78adfa1bba92970947f874d79ee00816c09ef9","519227305df739a48bac3e615d07ca27f1f6b48cff07b9a5c01da8df93afb375","5d8d1abd928416cb3bcdc2d58216ffaf9c15802c0fd89f51cb0286c2be62b8c1","645eeb7d0a01f5d23df2b504ec358f1665196cba4202ce667920807b24359129","6c43d14abe333cf98614b286c844810e17dcd28b7c5b0a72d9aa9bfc2c843f09","70032d687a87eb9d1c1eb814ce670547bd521285f292e02079aec9c5861160b4","73e21f9a2f38f654ca76520e34570f87b750ebb7df294fe2b1ddabb0cc2b00c4","88d11600bc77e78d95ca0ea5e55df590519be4bb77c90ced52b0e81d82cebc62","8d081894d767d995400d907e951fa6de9a335ef27f410f4eeb667215e980dfa1","8d769dd7d368194f9b0542d05ba1321c6e2da7514e0f4f579fecf59b53a3a869","93ae57f7eda7fb273e49a5d3ceb135f68b1b24cd03b0b205a6551715efe1a36a","9eb5fe531bdf6af887ef4d26754561a344d02f916483dd55e98a33dca3c81435","a24c3310f4347609dc4747f05c380a538a44ed05513b9a5010e291a62ac1d2c9","a29a4fb5befe2f5b8f9314c5406e8c7d81a7e4ab8cbd44d92c8fdcb8beb5ebc7","a6422cbcd6eafb603895263cd7a625370fa6f2a8485d69aba8260181a6fc9bb1","ad89b5e2f57e14789f5816d3c523beccae5755825c8ce653322ee968410427cf","b7195138f4714f8256e354e2343e26d13dd881210696d427ccddba8a9608f120","bfa97491696941e6138b35d4d8faaab528c859a39daaf6a02dd7b6c1881c550d","d06684e09b78fe5fbcdfbb1ae8550495c008e73b5ac20367b5d976dad2cf5312","d9751972c31ac6c3b8c26c34d4ec7834c212604544afc92e0670bc9bcc262c81","e00675c70dd2ed6f0727fc5aba03b63eb0b7caef7b51a1bd7879611f0897e89e","e20716d5b328f041ee08f2ebb5972a7fa5c5776a0d07c4ec4706427bd7f3199c","f40dfadcb0e1152ce9bd0d4d81bcb422e3f135b03d9abac09c2ec9c660c93dd6"],"recordQualifiers":{},"scopeLabel":"OMIM:272200","sourceIds":["OMIM:272200"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010088/ORPHA:585","label":"Multiple sulfatase deficiency","mondoId":"MONDO:0010088","onsetQualifier":null,"recordKeys":["0208be76b86b1af546f616dbbd5dee992a1963bea992cd17fac2fe531432f309","06a2d468d8b3f4ff65453ac01ce534eca911a38d65b1224d1d2f192761f616ac","0a0f2dd5e5e1a9cb98560e898b862dd5734a92a8e884886494c876dc1f7cb25e","154216e72a9fba2296e644983211f02957c25d03116533403e236415f53ec880","27bd02c5a07ce0955efbfcf9a65b4aeb299fd99f6eb01e8249bba9c5eeb9c627","313360ec148eee7e3569d86206db45ddf1abe9ede89118fa51fac26c827f2970","32b08f108594f8a92b0eb3b5d13316261bc91609254e0c01dcf8d0fe657de94e","4124eeae532826fdc9ff056d1502badec3205361c77216c3ae3882d5a474c028","45587fc1f7196ad7d20c9bbfe045e364ac6832c0d0cce1b8ad8ec2168778a2d4","5964add1bbdca6b4db0c986708fe85dbef9632d0e70a7ae62ada0299ae5a03ed","5b7c85be1cfe0c917cdc4f2ba80e144633104756b0a295c34f7fc03c3414c8fa","5b9bce706ab8b96c54709b9b90a2e1c8fd57b5ec75a032efdff1d5231864fd22","69d880d5c38b855cf2618cc55ef09cd87a737aabc295e96e70731871591afc9c","72a18b4a037a4ed736ccd409a5271b11c9f3ebc55cbf8467a283fc18e5d7bd9d","734b9a7db804d1df299258570a918a007edc93d77bf11ea44b25a3778fe11376","73e7da92bb4eb1406a4b9eb929b4fca273a5f299342787fa5e85832060341e93","770eb9c2884e0973b48bf856b3c6ca5914a270f8b5bccd713e2409f931f155e6","7b7f32908fdd0c97c8763a716d06636a94cbf375b07ee8d401571a1faeb12f14","890a0c76c79dcfacdffb1380fa0c11859147dfa11e52a900400b5c2baf1e1673","8ed6af897cb4de5f1fc5908c71d5b1ce19e9490c4cd77c61ae6f3a6f5a5bbca7","a96958cbae3a82537171ed79d1168a550532d59caf3c310c09e57e7036c5873c","ad60282c6f2bee3361770ada75251b3e0405c466553df5a9b670dcc9cb2838ae","b37d851f4d86935361752d72ca4ff5f2d2bc33c86a00813648b35033aff4708f","bacdfffa42b51ea678e098c143e86f4b7a76e56089d864a616bfb63b29c4d555","c4a46cd3a4c915be217b6a4759fe0e751ecd30a690f67438d510006927449569","c5932b7f813f201a3ae41fb1a1a0fba47df9892a38a30ca570c9420e550af745","cb5370a1e4ed8b8321e69410a2280ad0fa6a348b3a994b80c542c2e1734edc9b","cbae9e675fb289f1c39c03093f4afdc9ba418995b8e3408eac008c95e0700507","e03b99a95dabace03cb8d97631e3ba7f5487f29518021e3c6d746640b819abf4","e428cad5ccd6378cde4deb9efe038f17fd9a5fb480dace3df1b97f9d93b290db"],"recordQualifiers":{},"scopeLabel":"ORPHA:585","sourceIds":["ORPHA:585"],"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:0010088/OMIM:272200","MONDO:0010088/ORPHA:585"],"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":63,"sourceGroups":{"omim":33,"orphanet":30,"published":0}},"features":[{"hpoId":"HP:0002518","label":"Abnormal periventricular white matter morphology","primary":false},{"hpoId":"HP:0007703","label":"Abnormal retinal pigmentation","primary":false},{"hpoId":"HP:0003134","label":"Abnormality of peripheral nerve conduction","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0010055","label":"Broad hallux","primary":false},{"hpoId":"HP:0010059","label":"Broad hallux phalanx","primary":false},{"hpoId":"HP:0011304","label":"Broad thumb","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0001272","label":"Cerebellar atrophy","primary":false},{"hpoId":"HP:0002059","label":"Cerebral atrophy","primary":false},{"hpoId":"HP:0007305","label":"CNS demyelination","primary":false},{"hpoId":"HP:0000280","label":"Coarse facial features","primary":false},{"hpoId":"HP:0002208","label":"Coarse hair","primary":false},{"hpoId":"HP:0007957","label":"Corneal opacity","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0000943","label":"Dysostosis multiplex","primary":false},{"hpoId":"HP:0012368","label":"Flat face","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0000238","label":"Hydrocephalus","primary":false},{"hpoId":"HP:0008479","label":"Hypoplastic vertebral bodies","primary":false},{"hpoId":"HP:0008064","label":"Ichthyosis","primary":false},{"hpoId":"HP:0002922","label":"Increased CSF protein concentration","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001387","label":"Joint stiffness","primary":false},{"hpoId":"HP:0002003","label":"Large forehead","primary":false},{"hpoId":"HP:0002395","label":"Lower limb hyperreflexia","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0008155","label":"Mucopolysacchariduria","primary":false},{"hpoId":"HP:0001319","label":"Neonatal hypotonia","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0100539","label":"Periorbital edema","primary":false},{"hpoId":"HP:0011096","label":"Peripheral demyelination","primary":false},{"hpoId":"HP:0011220","label":"Prominent forehead","primary":false},{"hpoId":"HP:0007307","label":"Rapid neurologic deterioration","primary":false},{"hpoId":"HP:0000546","label":"Retinal degeneration","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0000319","label":"Smooth philtrum","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0001744","label":"Splenomegaly","primary":false},{"hpoId":"HP:0000574","label":"Thick eyebrow","primary":false},{"hpoId":"HP:0002119","label":"Ventriculomegaly","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false}],"ledeHtml":"Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.","mondoId":"MONDO:0010088","records":[{"frequencyKind":"range","key":"0208be76b86b1af546f616dbbd5dee992a1963bea992cd17fac2fe531432f309","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008064","is_excluded":false,"label":"Ichthyosis","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"02cd9e425c78ff4d6eda898f8d6b1c8aa9c1661090456a89f7fbac37cee25f0c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"06a2d468d8b3f4ff65453ac01ce534eca911a38d65b1224d1d2f192761f616ac","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000319","is_excluded":false,"label":"Smooth philtrum","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"09a7e2970beb30011537b23cc694c07b0be90a68884f593a3eaf9a0c7d56b13d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007305","is_excluded":false,"label":"CNS demyelination","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0a0f2dd5e5e1a9cb98560e898b862dd5734a92a8e884886494c876dc1f7cb25e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007307","is_excluded":false,"label":"Rapid neurologic deterioration","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0cff2bd181362d30bb1a7a2f587150d2de9bd63c0527245a8a6120ad25e80e63","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011304","is_excluded":false,"label":"Broad thumb","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0d7c63b9bdc98700a3a13ebc442c9668322aa6b7a6fdd90a1030602613e45b8f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002003","is_excluded":false,"label":"Large forehead","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"13ba0d537eb4275bf7a84793d2f6d2fbe6243d97f964e82bfdfc5ba5b9186aea","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100539","is_excluded":false,"label":"Periorbital edema","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"154216e72a9fba2296e644983211f02957c25d03116533403e236415f53ec880","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"255e435727712e1f848b8bf80a4b4d712d5fa1e68b742ebaba70b4d4bdc4a055","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"27bd02c5a07ce0955efbfcf9a65b4aeb299fd99f6eb01e8249bba9c5eeb9c627","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007703","is_excluded":false,"label":"Abnormal retinal pigmentation","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"313360ec148eee7e3569d86206db45ddf1abe9ede89118fa51fac26c827f2970","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"32b08f108594f8a92b0eb3b5d13316261bc91609254e0c01dcf8d0fe657de94e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"37b428c2c4e1f46f3ffe1343926fae5589d9d908d168359ccbe48dddd45bdc62","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008064","is_excluded":false,"label":"Ichthyosis","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"402f2efc700ade01534f81d5a95403a2649f08eb1e299f283aee6e47d3e4b4fd","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4124eeae532826fdc9ff056d1502badec3205361c77216c3ae3882d5a474c028","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"41fd9daf6e26caf5e4f99c1660c6cfe75ee76fd1ec6d5a24bb669d9224e05212","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"45587fc1f7196ad7d20c9bbfe045e364ac6832c0d0cce1b8ad8ec2168778a2d4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001387","is_excluded":false,"label":"Joint stiffness","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4b62721096cb2346c521103e534875c751b73859e45fa5ee457fe6089bade66d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002922","is_excluded":false,"label":"Increased CSF protein concentration","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4f9fdbb8c3548c3ac3cc5257af78adfa1bba92970947f874d79ee00816c09ef9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002518","is_excluded":false,"label":"Abnormal periventricular white matter morphology","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"519227305df739a48bac3e615d07ca27f1f6b48cff07b9a5c01da8df93afb375","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008155","is_excluded":false,"label":"Mucopolysacchariduria","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"5964add1bbdca6b4db0c986708fe85dbef9632d0e70a7ae62ada0299ae5a03ed","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5b7c85be1cfe0c917cdc4f2ba80e144633104756b0a295c34f7fc03c3414c8fa","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5b9bce706ab8b96c54709b9b90a2e1c8fd57b5ec75a032efdff1d5231864fd22","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5d8d1abd928416cb3bcdc2d58216ffaf9c15802c0fd89f51cb0286c2be62b8c1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"645eeb7d0a01f5d23df2b504ec358f1665196cba4202ce667920807b24359129","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"69d880d5c38b855cf2618cc55ef09cd87a737aabc295e96e70731871591afc9c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6c43d14abe333cf98614b286c844810e17dcd28b7c5b0a72d9aa9bfc2c843f09","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000280","is_excluded":false,"label":"Coarse facial features","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"70032d687a87eb9d1c1eb814ce670547bd521285f292e02079aec9c5861160b4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"72a18b4a037a4ed736ccd409a5271b11c9f3ebc55cbf8467a283fc18e5d7bd9d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011304","is_excluded":false,"label":"Broad thumb","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"734b9a7db804d1df299258570a918a007edc93d77bf11ea44b25a3778fe11376","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008155","is_excluded":false,"label":"Mucopolysacchariduria","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"73e21f9a2f38f654ca76520e34570f87b750ebb7df294fe2b1ddabb0cc2b00c4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"73e7da92bb4eb1406a4b9eb929b4fca273a5f299342787fa5e85832060341e93","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000280","is_excluded":false,"label":"Coarse facial features","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"770eb9c2884e0973b48bf856b3c6ca5914a270f8b5bccd713e2409f931f155e6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7b7f32908fdd0c97c8763a716d06636a94cbf375b07ee8d401571a1faeb12f14","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000463","is_excluded":false,"label":"Anteverted nares","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"88d11600bc77e78d95ca0ea5e55df590519be4bb77c90ced52b0e81d82cebc62","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007957","is_excluded":false,"label":"Corneal opacity","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"890a0c76c79dcfacdffb1380fa0c11859147dfa11e52a900400b5c2baf1e1673","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8d081894d767d995400d907e951fa6de9a335ef27f410f4eeb667215e980dfa1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011096","is_excluded":false,"label":"Peripheral demyelination","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8d769dd7d368194f9b0542d05ba1321c6e2da7514e0f4f579fecf59b53a3a869","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002395","is_excluded":false,"label":"Lower limb hyperreflexia","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8ed6af897cb4de5f1fc5908c71d5b1ce19e9490c4cd77c61ae6f3a6f5a5bbca7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"93ae57f7eda7fb273e49a5d3ceb135f68b1b24cd03b0b205a6551715efe1a36a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000546","is_excluded":false,"label":"Retinal degeneration","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"9eb5fe531bdf6af887ef4d26754561a344d02f916483dd55e98a33dca3c81435","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a24c3310f4347609dc4747f05c380a538a44ed05513b9a5010e291a62ac1d2c9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000943","is_excluded":false,"label":"Dysostosis multiplex","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a29a4fb5befe2f5b8f9314c5406e8c7d81a7e4ab8cbd44d92c8fdcb8beb5ebc7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a6422cbcd6eafb603895263cd7a625370fa6f2a8485d69aba8260181a6fc9bb1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008479","is_excluded":false,"label":"Hypoplastic vertebral bodies","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a96958cbae3a82537171ed79d1168a550532d59caf3c310c09e57e7036c5873c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003134","is_excluded":false,"label":"Abnormality of peripheral nerve conduction","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ad60282c6f2bee3361770ada75251b3e0405c466553df5a9b670dcc9cb2838ae","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002208","is_excluded":false,"label":"Coarse hair","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ad89b5e2f57e14789f5816d3c523beccae5755825c8ce653322ee968410427cf","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b37d851f4d86935361752d72ca4ff5f2d2bc33c86a00813648b35033aff4708f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b7195138f4714f8256e354e2343e26d13dd881210696d427ccddba8a9608f120","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bacdfffa42b51ea678e098c143e86f4b7a76e56089d864a616bfb63b29c4d555","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000574","is_excluded":false,"label":"Thick eyebrow","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bfa97491696941e6138b35d4d8faaab528c859a39daaf6a02dd7b6c1881c550d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010055","is_excluded":false,"label":"Broad hallux","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c4a46cd3a4c915be217b6a4759fe0e751ecd30a690f67438d510006927449569","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001744","is_excluded":false,"label":"Splenomegaly","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c5932b7f813f201a3ae41fb1a1a0fba47df9892a38a30ca570c9420e550af745","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb5370a1e4ed8b8321e69410a2280ad0fa6a348b3a994b80c542c2e1734edc9b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0010059","is_excluded":false,"label":"Broad hallux phalanx","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cbae9e675fb289f1c39c03093f4afdc9ba418995b8e3408eac008c95e0700507","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d06684e09b78fe5fbcdfbb1ae8550495c008e73b5ac20367b5d976dad2cf5312","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d9751972c31ac6c3b8c26c34d4ec7834c212604544afc92e0670bc9bcc262c81","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002059","is_excluded":false,"label":"Cerebral atrophy","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e00675c70dd2ed6f0727fc5aba03b63eb0b7caef7b51a1bd7879611f0897e89e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007307","is_excluded":false,"label":"Rapid neurologic deterioration","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e03b99a95dabace03cb8d97631e3ba7f5487f29518021e3c6d746640b819abf4","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e20716d5b328f041ee08f2ebb5972a7fa5c5776a0d07c4ec4706427bd7f3199c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e428cad5ccd6378cde4deb9efe038f17fd9a5fb480dace3df1b97f9d93b290db","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:585","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007957","is_excluded":false,"label":"Corneal opacity","onset_id":null,"reference":"ORPHA:585","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f40dfadcb0e1152ce9bd0d4d81bcb422e3f135b03d9abac09c2ec9c660c93dd6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:272200","disease_name":"Multiple sulfatase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001272","is_excluded":false,"label":"Cerebellar atrophy","onset_id":null,"reference":"OMIM:272200","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency\">Multiple sulfatase deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones.</p><p>Most SUMF1 gene mutations severely reduce the function of the FGE enzyme or lead to the production of an unstable enzyme that is quickly broken down. The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes. Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death. The death of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and symptoms of multiple sulfatase deficiency.</p><p>Research indicates that mutations that lead to reduced FGE enzyme function are associated with the less severe cases of the condition, whereas mutations that lead to the production of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Multiple sulfatase deficiency?"},{"bodyHtml":"<p>The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can include abnormal side-to-side curvature of the spine (scoliosis), joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as &quot;coarse.&quot; Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time.</p><p>The late-infantile type is the most common form of multiple sulfatase deficiency. It is characterized by normal cognitive development in early childhood followed by a progressive loss of mental abilities and movement (psychomotor regression) due to leukodystrophy or other brain abnormalities. Individuals with this form of the condition do not have as many features as those with the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features.</p><p>The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and symptoms of the juvenile type appear in mid- to late childhood. Affected individuals have normal early cognitive development but then experience psychomotor regression; however, the regression in the juvenile type usually occurs at a slower rate than in the late-infantile type. Ichthyosis is also common in the juvenile type of multiple sulfatase deficiency.</p><p>Life expectancy is shortened in individuals with all types of multiple sulfatase deficiency. Typically, affected individuals survive only a few years after the signs and symptoms of the condition appear, but life expectancy varies depending on the severity of the condition and how quickly the neurological problems worsen.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"multiple-sulfatase-deficiency","sourceDocuments":[{"name":"Multiple sulfatase deficiency","reviewed":"2014-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:34.844673+00:00","label":"Causes","pageSha256":"838e99a0ffc09c16f55b73b88bbc6468edf877f15961638166a8b3a03993306f","sourceUrl":"https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency"}],"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":"Multiple sulfatase deficiency"},"schemaVersion":1}