{"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:0012556/OMIM:610768","label":"Congenital disorder of glycosylation, type Im","mondoId":"MONDO:0012556","onsetQualifier":null,"recordKeys":["06673044f82dbf0a2f287a57256e8af7feb6107a1c3af558a80feab07ba9da3d","10f74f4a59ccbec910d7c5b496027bfc34233b1a987ff2b9fff5259982ba8ed3","1d6b36969bc9d9d865c9a8a4a10d7462be627763eb64f3939fe2aa2ef38255fa","37518c62153217363a9f1c8ba713c5f0c247f4b7edfdcbe8c7e1de24d97434ad","3f4527d1a9434b9f69e92771c5ad42e4314a2990efe58ab4e52ba5faf2010a3f","4738a54a291905e22a7470709ef4a02166f5c66574815fa45950ef6795f85941","4b5d76a24121d516f340a628965a4ca294fe798f306d2cab4f927f3297e4f4b3","51f93172cf377f218060c1fa81ea55c4ccc64e1835bd0da0d44519257377a51b","75b3fc7aadfe60cb133e9c0efdfe764203283c9752793c1bf93b8d180f505476","79613c52b3a5dfd6c4b951af274526f363fabe7bc54865c3b7a860b7cb28a4ea","87b97c3fba6b69dc00c599ae49796e2a84bfcd95fce0119e47eb5604ce7b365a","9cad3a79676c191c507319ec57d7da184e3acf71adb59a4e66dc195817edf3d5","a02ca72acb0f8748e5862603a6e6783e0b7fa4f9ba17775fe260631434ca9d5f","a47f21f7d9d19e976db3762a16751b492fda425477b0b7f6150f00989dc45651","a57d9e3c21f12ecd95faad7359289fb3d5f637475c0608473032400114347544","a7cfd88a6551bc9269237aa055a36b1a6f720cf5f205b7465edac766043a6de0","b6779d292e469ff3e20e2a76c0ed0ee5562f75c21a5ee08dbf81bfbffe806ac4","c97d71e30a0dcaeaa8c6c73d4d7421b2eb6516146ad629b1e1021a4a16dcc4d6","dc0d009c4c0647b400dcd15d04cf38ee19ff1e15c358ad2ee4fcab77d90c3468","f4591202d7910a2ec7baac1a1e159fd9929eebd7683519779cab7f7f63e9723a","fcb2b001533e9ed3c5ff1dd0e13acef5f69a0eeae5284fb3d6c0132d3f4bfbe3","fd20cdd1ca9666113b196ef64a7e6688f7026e6ade69bda9edfd3e8015c80d19"],"recordQualifiers":{},"scopeLabel":"OMIM:610768","sourceIds":["OMIM:610768"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0012556/ORPHA:91131","label":"DK1-CDG","mondoId":"MONDO:0012556","onsetQualifier":null,"recordKeys":["038d4a7a9f8529cbf9abab7e12fef83daed08e736b9fbd988024b030c9ec0841","07aa5c4b77fcf08b40335e637f07cb56eae326abf5240b41e942f5433f8ad1f8","0f84f1ebb3a84a74ec071cda167d86d4509ee158a714c05b63f780acb0bb8a87","15c0b1c7a6b1ec9b1ad55d66013074df6fc52b6f62d1cb40e856e7b93cb64d65","1636cd11125b600c40d08246e9017b853f8ba58247a6045811f1eeba01328b39","163a8c862c57a4ac7f1a0d21ba4bece311f323f49987aad5e0f4cb9abf7ef221","18b107f4e6ef8b4c7a695ae0c55e5436e4748cbe546072d3bccf62092da0c506","18dfcc23f69d1f5bef25c5296eb0a40692d36652098676dc13b4fa49890b3bb0","37348b507b06ae9ad5faab52ec3c89a03ebe212b79dd7352668777a1e442c15b","42967f66e33d0bb3c14fc8126211d52a27e82f6349d21f7042cc0c8e352dc32f","43f991f2525e124f29349afaa32c0752aabef9b0c27a63c7bbdfb8f44b6c0439","4d8e1c01b5bb9b4aa255707dfa8e27613c0f4ad84876bac8777340376ace4d49","82206c01bad9098d9cae9dbe813a368b3bc020713a27d7b9b2ddc1bd0979e695","82e28240c771c8024e278b7db0a3b01f8a4a3b9117c350d0e9531513146020cc","8550fa24ba80cb460a327949b8b19db22181ab437e4b2b8fb2e50b112109b346","88a5561870a3ffc3a5a5c67ed190c0b5c126c0822e6fca2b917c8c8fdcd2a01f","8ce7582988dbc4ee64b01d74b493e707e0dfddd515ccf46d8d55fd8f37de1a14","9176b5048e8de2d2223804f8ffc42555a27569e88940992dbb27397b8e0e0274","943d256b75144feabbc77d6161d2a693559c4ceb4397d6e7e579d9b83f7c9822","9ee6a78010252794ef3ec31320149e597b14898aac0a8a1b042cd2f77bc83e97","a252207ce1e99615bf39a50476327f6ea5dec96af5e7f2ed70142ab626b0bcdd","a7f27281702d0ce13873a8d90eb7935c0eabacad97184d3af4eb8bc8bc8422a7","aab92ab241e7307731824b8ccc36479e35abc270d28d32a06d526387b20f5aa2","b33b06a2ba32394c282851673311831aeb26a7b6a144b591e0ba25f077a8f654","c56a553ae0613942eee41adba9ee6750825c9f01827273b52baa765f063438ae","d2efeb1e737a488136b8e86db4ae05b4274ae487ddca37527a966edf8fb9a26b","d8dbe8734e62fc62ea3cfaca023e752388a8c518424296f123cde0e4d981c2ed","daccfcee2299a0f6f1452b46d62768824de276796f373908ce99c31d508142a2","dc23f6c798dff2c7f24682672b789e4e9f1e94a85abdd2a6054b461a90f837cc","e0429b58b991526f73f61f2cdeec8f577bc645d249c8c6e7614a01be786265a6","e1f4718087731fb9908a8ca6b5a09d36a302ad2ef00507b27b49c90414e60f2b","e4fed6d7049be2536beaf5e8081cb23d5878f6b54664d28f0f05acea62c545fd"],"recordQualifiers":{},"scopeLabel":"ORPHA:91131","sourceIds":["ORPHA:91131"],"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:0012556/OMIM:610768","MONDO:0012556/ORPHA:91131"],"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":21,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":54,"sourceGroups":{"omim":1,"orphanet":32,"published":21}},"features":[{"hpoId":"HP:0012379","label":"Abnormal circulating enzyme concentration or activity","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0001596","label":"Alopecia","primary":false},{"hpoId":"HP:0011675","label":"Arrhythmia","primary":false},{"hpoId":"HP:0002835","label":"Aspiration","primary":false},{"hpoId":"HP:0000729","label":"Autistic behavior","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0001662","label":"Bradycardia","primary":false},{"hpoId":"HP:0031319","label":"Cardiomyocyte hypertrophy","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0025335","label":"Delayed ability to stand","primary":false},{"hpoId":"HP:0031936","label":"Delayed ability to walk","primary":false},{"hpoId":"HP:0002014","label":"Diarrhea","primary":false},{"hpoId":"HP:0001644","label":"Dilated cardiomyopathy","primary":false},{"hpoId":"HP:0000958","label":"Dry skin","primary":false},{"hpoId":"HP:0010845","label":"EEG with generalized slow activity","primary":false},{"hpoId":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0008947","label":"Floppy infant","primary":false},{"hpoId":"HP:0007359","label":"Focal-onset seizure","primary":false},{"hpoId":"HP:0000962","label":"Hyperkeratosis","primary":false},{"hpoId":"HP:0001985","label":"Hypoketotic hypoglycemia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002521","label":"Hypsarrhythmia","primary":false},{"hpoId":"HP:0008064","label":"Ichthyosis","primary":false},{"hpoId":"HP:0030781","label":"Increased circulating free fatty acid level","primary":false},{"hpoId":"HP:0012469","label":"Infantile spasms","primary":false},{"hpoId":"HP:0011123","label":"Inflammatory abnormality of the skin","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0031329","label":"Interstitial cardiac fibrosis","primary":false},{"hpoId":"HP:0011342","label":"Mild global developmental delay","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0010841","label":"Multifocal epileptiform discharges","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0000253","label":"Progressive microcephaly","primary":false},{"hpoId":"HP:0003323","label":"Progressive muscle weakness","primary":false},{"hpoId":"HP:0000817","label":"Reduced eye contact","primary":false},{"hpoId":"HP:0005484","label":"Secondary microcephaly","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0006829","label":"Severe muscular hypotonia","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0045075","label":"Sparse eyebrow","primary":false},{"hpoId":"HP:0000653","label":"Sparse eyelashes","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0002445","label":"Tetraplegia","primary":false},{"hpoId":"HP:0003642","label":"Type I transferrin isoform profile","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0002013","label":"Vomiting","primary":false}],"ledeHtml":"DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder&#x27;s signs and symptoms vary among affected individuals.","mondoId":"MONDO:0012556","records":[{"frequencyKind":"range","key":"038d4a7a9f8529cbf9abab7e12fef83daed08e736b9fbd988024b030c9ec0841","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"06673044f82dbf0a2f287a57256e8af7feb6107a1c3af558a80feab07ba9da3d","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002835","is_excluded":false,"label":"Aspiration","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"07aa5c4b77fcf08b40335e637f07cb56eae326abf5240b41e942f5433f8ad1f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0f84f1ebb3a84a74ec071cda167d86d4509ee158a714c05b63f780acb0bb8a87","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"10f74f4a59ccbec910d7c5b496027bfc34233b1a987ff2b9fff5259982ba8ed3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0005484","is_excluded":false,"label":"Secondary microcephaly","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"15c0b1c7a6b1ec9b1ad55d66013074df6fc52b6f62d1cb40e856e7b93cb64d65","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0011342","is_excluded":false,"label":"Mild global developmental delay","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1636cd11125b600c40d08246e9017b853f8ba58247a6045811f1eeba01328b39","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0025335","is_excluded":false,"label":"Delayed ability to stand","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"163a8c862c57a4ac7f1a0d21ba4bece311f323f49987aad5e0f4cb9abf7ef221","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003642","is_excluded":false,"label":"Type I transferrin isoform profile","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"18b107f4e6ef8b4c7a695ae0c55e5436e4748cbe546072d3bccf62092da0c506","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"18dfcc23f69d1f5bef25c5296eb0a40692d36652098676dc13b4fa49890b3bb0","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0031319","is_excluded":false,"label":"Cardiomyocyte hypertrophy","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1d6b36969bc9d9d865c9a8a4a10d7462be627763eb64f3939fe2aa2ef38255fa","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"37348b507b06ae9ad5faab52ec3c89a03ebe212b79dd7352668777a1e442c15b","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"37518c62153217363a9f1c8ba713c5f0c247f4b7edfdcbe8c7e1de24d97434ad","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3f4527d1a9434b9f69e92771c5ad42e4314a2990efe58ab4e52ba5faf2010a3f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000962","is_excluded":false,"label":"Hyperkeratosis","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"42967f66e33d0bb3c14fc8126211d52a27e82f6349d21f7042cc0c8e352dc32f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"43f991f2525e124f29349afaa32c0752aabef9b0c27a63c7bbdfb8f44b6c0439","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002521","is_excluded":false,"label":"Hypsarrhythmia","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"4738a54a291905e22a7470709ef4a02166f5c66574815fa45950ef6795f85941","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002521","is_excluded":false,"label":"Hypsarrhythmia","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4b5d76a24121d516f340a628965a4ca294fe798f306d2cab4f927f3297e4f4b3","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000653","is_excluded":false,"label":"Sparse eyelashes","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4d8e1c01b5bb9b4aa255707dfa8e27613c0f4ad84876bac8777340376ace4d49","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"51f93172cf377f218060c1fa81ea55c4ccc64e1835bd0da0d44519257377a51b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0008064","is_excluded":false,"label":"Ichthyosis","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"75b3fc7aadfe60cb133e9c0efdfe764203283c9752793c1bf93b8d180f505476","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"79613c52b3a5dfd6c4b951af274526f363fabe7bc54865c3b7a860b7cb28a4ea","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001662","is_excluded":false,"label":"Bradycardia","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"82206c01bad9098d9cae9dbe813a368b3bc020713a27d7b9b2ddc1bd0979e695","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"82e28240c771c8024e278b7db0a3b01f8a4a3b9117c350d0e9531513146020cc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008947","is_excluded":false,"label":"Floppy infant","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8550fa24ba80cb460a327949b8b19db22181ab437e4b2b8fb2e50b112109b346","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000817","is_excluded":false,"label":"Reduced eye contact","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"87b97c3fba6b69dc00c599ae49796e2a84bfcd95fce0119e47eb5604ce7b365a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0045075","is_excluded":false,"label":"Sparse eyebrow","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"88a5561870a3ffc3a5a5c67ed190c0b5c126c0822e6fca2b917c8c8fdcd2a01f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8ce7582988dbc4ee64b01d74b493e707e0dfddd515ccf46d8d55fd8f37de1a14","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9176b5048e8de2d2223804f8ffc42555a27569e88940992dbb27397b8e0e0274","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011675","is_excluded":false,"label":"Arrhythmia","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"943d256b75144feabbc77d6161d2a693559c4ceb4397d6e7e579d9b83f7c9822","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007359","is_excluded":false,"label":"Focal-onset seizure","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9cad3a79676c191c507319ec57d7da184e3acf71adb59a4e66dc195817edf3d5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002014","is_excluded":false,"label":"Diarrhea","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9ee6a78010252794ef3ec31320149e597b14898aac0a8a1b042cd2f77bc83e97","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031329","is_excluded":false,"label":"Interstitial cardiac fibrosis","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a02ca72acb0f8748e5862603a6e6783e0b7fa4f9ba17775fe260631434ca9d5f","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001985","is_excluded":false,"label":"Hypoketotic hypoglycemia","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a252207ce1e99615bf39a50476327f6ea5dec96af5e7f2ed70142ab626b0bcdd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006829","is_excluded":false,"label":"Severe muscular hypotonia","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a47f21f7d9d19e976db3762a16751b492fda425477b0b7f6150f00989dc45651","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0003642","is_excluded":false,"label":"Type I transferrin isoform profile","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a57d9e3c21f12ecd95faad7359289fb3d5f637475c0608473032400114347544","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"OMIM:610768","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"a7cfd88a6551bc9269237aa055a36b1a6f720cf5f205b7465edac766043a6de0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a7f27281702d0ce13873a8d90eb7935c0eabacad97184d3af4eb8bc8bc8422a7","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008064","is_excluded":false,"label":"Ichthyosis","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aab92ab241e7307731824b8ccc36479e35abc270d28d32a06d526387b20f5aa2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b33b06a2ba32394c282851673311831aeb26a7b6a144b591e0ba25f077a8f654","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","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:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b6779d292e469ff3e20e2a76c0ed0ee5562f75c21a5ee08dbf81bfbffe806ac4","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0030781","is_excluded":false,"label":"Increased circulating free fatty acid level","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c56a553ae0613942eee41adba9ee6750825c9f01827273b52baa765f063438ae","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003323","is_excluded":false,"label":"Progressive muscle weakness","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c97d71e30a0dcaeaa8c6c73d4d7421b2eb6516146ad629b1e1021a4a16dcc4d6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0000958","is_excluded":false,"label":"Dry skin","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d2efeb1e737a488136b8e86db4ae05b4274ae487ddca37527a966edf8fb9a26b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010845","is_excluded":false,"label":"EEG with generalized slow activity","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d8dbe8734e62fc62ea3cfaca023e752388a8c518424296f123cde0e4d981c2ed","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000253","is_excluded":false,"label":"Progressive microcephaly","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"daccfcee2299a0f6f1452b46d62768824de276796f373908ce99c31d508142a2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"dc0d009c4c0647b400dcd15d04cf38ee19ff1e15c358ad2ee4fcab77d90c3468","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002445","is_excluded":false,"label":"Tetraplegia","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dc23f6c798dff2c7f24682672b789e4e9f1e94a85abdd2a6054b461a90f837cc","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031936","is_excluded":false,"label":"Delayed ability to walk","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e0429b58b991526f73f61f2cdeec8f577bc645d249c8c6e7614a01be786265a6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010841","is_excluded":false,"label":"Multifocal epileptiform discharges","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e1f4718087731fb9908a8ca6b5a09d36a302ad2ef00507b27b49c90414e60f2b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012469","is_excluded":false,"label":"Infantile spasms","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e4fed6d7049be2536beaf5e8081cb23d5878f6b54664d28f0f05acea62c545fd","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:91131","disease_name":"DK1-CDG","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002910","is_excluded":false,"label":"Elevated circulating hepatic transaminase concentration","onset_id":null,"reference":"ORPHA:91131","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f4591202d7910a2ec7baac1a1e159fd9929eebd7683519779cab7f7f63e9723a","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001596","is_excluded":false,"label":"Alopecia","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fcb2b001533e9ed3c5ff1dd0e13acef5f69a0eeae5284fb3d6c0132d3f4bfbe3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"fd20cdd1ca9666113b196ef64a7e6688f7026e6ade69bda9edfd3e8015c80d19","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:610768","disease_name":"Congenital disorder of glycosylation, type Im","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0011123","is_excluded":false,"label":"Inflammatory abnormality of the skin","onset_id":null,"reference":"PMID:17273964","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation\">DOLK-congenital disorder of glycosylation</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation changes proteins in ways that are important for their functions. During glycosylation, sugars are added to dolichol phosphate in order to build the oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein.</p><p>Mutations in the DOLK gene lead to the production of abnormal dolichol kinase with reduced or absent activity. Without properly functioning dolichol kinase, dolichol phosphate is not produced and glycosylation cannot proceed normally. In particular, a protein known to stabilize heart muscle fibers, called alpha-dystroglycan, has been shown to have reduced glycosylation in people with DOLK-CDG. Impaired glycosylation of alpha-dystroglycan disrupts its normal function, which damages heart muscle fibers as they repeatedly contract and relax. Over time, the fibers weaken and break down, leading to dilated cardiomyopathy. The other signs and symptoms of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes DOLK-congenital disorder of glycosylation?"},{"bodyHtml":"<p>Individuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.</p><p>Individuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"dolk-congenital-disorder-of-glycosylation","sourceDocuments":[{"name":"DOLK-congenital disorder of glycosylation","reviewed":"2016-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:01.898495+00:00","label":"Causes","pageSha256":"6bad2ee5b3853fa2229c35f610fb245f5782a1937eb49ce1ec4224f998dc9320","sourceUrl":"https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"DOLK-congenital disorder of glycosylation"},"schemaVersion":1}