{"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:0009282/OMIM:231680","label":"Multiple acyl-CoA dehydrogenation deficiency","mondoId":"MONDO:0009282","onsetQualifier":null,"recordKeys":["09f34c09d6833315f79225771b236518b2111e251a0cb42a439af9fb6bd73be9","0a80a2c3a4eedf2939faa54d0c3f1760adf109a60a55a99dc777f29ac95c1da3","0acd0ceefbed544196118914d8f6674f90dde214569fcad75929dadd117deb0b","0b7f82191de086e926c6fc254ecd8f8cf01cda326b55e65c23a2c7807e4153b7","0d60da60234fff5b2298ef32853c27c8f74a9f427070016b8e455c1f711f3d5a","14b6ac553d4b3fde5e07c0effcfc3b30f9dea80e24fb76593546332cf3964c2e","1c5541f9b42eafe4ce46e049585e22f2ea3d9dc86d5cbb508d56abcf166dc40e","1d0ed74d41c39a2a1d598d84be335592bb6d7560ec8541cb06ec212290fba0c2","27162351d9fa2890c349c4e3d118cbe99c6447abfabb0c1e965ad6410ec3c1fe","289425850f4746e10abfa7428c113e5d7c9ec3f6809bab01ea32cf3edd3136e7","28a1a256225cca3437fa6e51b6fe92176481405d8777c960dc348bc876973fe3","3bcdb272ac905d1f552c0a8630510756cf6722afd574f7a25291a5f81bb78fd2","3f3ddc118f6bcf743e8effd06582b5d20ed6a1be2ff912db1f4efc8f4555f486","4267f9a1009de751bde152b374e81c3b41a353af456b436f55764166945cd10a","42b7a171c1cdb15b7adca456c8a69fec687f735c79baf2b185ace3a6ff2b6f74","4628ce11ab35b91a3dcdd047b6df7c528d56e965b15e0b084ce12fedb42eeb07","4a54cf72a7598f7eafbf0e47da5253ce1f6dbd560f863ab397b87b64569c27c1","4f0cd453fac173d122b4dc2e6a07f30dc8498d4dd77e52f54fb438107b691728","52a06ee2b281c905c09d35946028f840a516a790b07652b6ce01170d85cbd225","53d6515c95117e31d9aaa331672501c27eee17a880b896e1b13346f94e8a6823","5697f4529cd04ab3a3b32af073d6846d3ae77ba4f2e820b1768736d2242fd475","63f33992c9cfa688e8b15f5f5d06df88f714464a5e185c47db61588dd39a6e54","73b3e50c9ea097d37c35eef8f6e975c3c8aae04775f3b31d4b348b4ab05cfd4c","7970fa3aa67ee4b307a89c8330224e5a24341a5b22267a71ddd479c0b50a52d5","7ae4e4ce0333f3c203bb892d71e35d671cab99b8ff610ee0a4b0c0c50fc130e5","8c0e98e59d75817293d250ddae0298a170fa56dd7f4eb28f038c783dc5063c15","8e34b0226af8b274768c30138441cf615cb0cfb31caa53b93d3cfdbaa38ca5f8","9b90945aa3f0b5bab422646f307e262eec5c98ec42ff4cc98c581161beb60e17","9e4e60a30293bc575f1cc3207ef869b226c16da0d5e0c72f83c609bd4477f86f","ace0dacac95d30221c86ebe1f09d3d50fa31d5e5b6b64f78e3864445663bf7d0","c19ad69119d713e8702b435b97d07023343de877266d323085861372b88cd6fa","c8e9690f0770c0f5f8436b1a437fd759e3c0c6e0930093b68828863d5de58658","cbfcfdff876a8d92ab2b4929589b76a52141e994ba474826962d1e789c025a57","ce5068419f08544f36796c42cc190255de3fb81e41be79f903ff7361c47a32ce","d131ccff0c3d37c2644ea9ec3801bef761a2f3f3f0e9f08f522587145c9902ae","d2230844f7febc78507d25220397cd8cdbb220befdb975b9c8be182db10d1d36","d4163e6ad26bc61e6f161a8a62f388d26ee796ba37f9238c3e3affbaca6cf23e","d4407576be522ddfad8d44f93e3111e22554b03129326f31ec511da96daff39b","dc4f59355fbe0e5b297e2a45a8021518cae16e742469e5f75fa0003b50d51eb3","ddc2dc58bb57af78051781699b2071bd48e08d1f8ea92c3104415cb9b401bf1a","ebf78563538b1c0dd8ecbdbead5dbceaf94c90be214e70544789e9432d540d15","fda8c48ef69f7ab19e12aaba86def8862aeb1f08ba35859d6bdb3357db483044"],"recordQualifiers":{},"scopeLabel":"OMIM:231680","sourceIds":["OMIM:231680"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0009282/ORPHA:26791","label":"Multiple acyl-CoA dehydrogenase deficiency","mondoId":"MONDO:0009282","onsetQualifier":null,"recordKeys":["07903e05b39a7f1ad3af2f2b47dde3063da640d3da57eee0acdca196892a2cab","0ca53f223f1f1f1177764077266badb5c0a9004125c6b29ae61617f43d7e41fe","0e765df506adcd286d4d7c40583c84b6334078829b77f98cec297d3ccb9c4da8","165cfbf392b797fde6b6503ac56b178a96dbb27fdc60ebbe2e21da012f58552d","1715ec95e92c9af8ef5e4123cfc393f0223e1c2ed12335bf841c3190ee0e185d","2055531fd673623ca4630e4ee3fd835d9aa9cf9e3f5c07bbbade592af23f94ab","2683f1def81b1de55d4cd043b596f18fb59513605252a9a7875415c1b2ab092a","2c0ff48cfd85361c894ee91103f3fb4ea92ad6ccd240a42e0fab8c0e399a78d4","36855de0e538663428b24bbb49b2066b60cd9a34436b0464a886e3fde525b6f3","36f80e223f46289ed563be0af312876d881e59af8ffab5bbe10ee9556ffdf594","39b9dca20d61d684b8c93b9977238f6a3b6b2a97f27a8fce5f651ea23a9f0cb3","3fe53368b77b55c774c63433e798b2269fc7ace2550c796b08bfc9f9b941432a","452fcdad75ba8e52066be9f4ba0a48cfea454fc59adaafa2e3726befab3cd045","4f5f40d8e89780882154726f6c63febb0423e450ac52acffe77081086c7cd58c","53d0e380307fb13b965352b0e5abf05e813cb7e5b1186b6ee287230eb5cdc2ae","60a7ef9a96b7bf304acccd43737d2478369869e671c93c09a695c8787a8167b4","60bffeb4a26499325d02d489c6667b29764a47f83ac560c9ed9b2e214a1df916","6344eb78086b14c3ded9805081bb4cc5a95ec52e8c464a8286168da9674372f5","657c3b46436618304a958811c5c832316994e687b49bf730fa66acdd16f9fb93","6957b14a523bbe0a476f2bb53b17ecc01065c9694bd921e82a1e7fe19b63c87b","78482567d45d8f87108e4a757a0b9aab52f955fc39affbe1e5249fa9f2d0837f","841ba2a9512be29c01e64d2f6b31b4d33030bc55310511e704b433cca812475a","85c56962f38391fd3206fbd0cdd013d1697b0d452128c89408beba3441524bdf","875991d1277db7007433626d79ddcd0504906c16dc4da2a8208cab079b6a586d","8d98757c692ec65f463a25643395277e6b5e4ab04615809efeeb8e38ebb0f3cd","926fd36f00e9061f92685d362fa70923dee1686ada367434e1ecaa15b01ca5d2","95006adfd0799689203532e310586621e737b013bbe8ebe7a6f1684f1c36024d","97c9884a9b75c7540f72ef14d69ab0c48c1882c380e7988e1129a5edfffafc38","98aa74ba4c96809bf2be42c1fe3148ac1f877e48c9dbfc2210f7c9da74c63e16","9de0e21b353a3c32f70b193c5138e4b688a44422960be543be8a29be747fc3f5","a6e02fc56535a673fa9723a1504deb959aed4332dc7b7dcd91992905989e71d3","b1dc31fc3c6c00faca7248ec4bfed80b0d59c9df0175d197cdea1482f32039b2","b3b18dbe83da0bf53bb935461cce3fefa9b987051ec53764d4f337fd6d5753a8","b87f06dbbae3127758fdfd0666c8ce143db13e6792e405f2fd6c17b807516734","b9a94af96f33152abe2d7c7ac496edcb583bdffb812e40be344e51e10b3bc9ff","bcfe8f6fc4b7f1fecefeff90ecbc93e4ec18ebf519c7fae10d4c0f89ee35ade4","bee2c251f78e2b10f9560afd7b74cf9d404556263fc2c91b2f2a2025f54bf357","bf291f8753b2e6aa65de15f0e2bcadf6631f4228fc791e3d65e4b76ab578b52f","c2936fb93201d957b2f253bb7bc414dc69317277067f57f6dc6cf1676614e9c8","c3e17ddd6cd34bbe203a1e892f238e566ada70b74fe32e1338fdaa0ad4ada7f2","c490f00df08cacf292f8d5c7499ccbf987c3e678115c559c36729912c97f12e7","c4b70657740bf633b906c5206225cbd2bb93cf1b2a91d3374f0ff2cd09002ad3","c531f1ab25ef26af826f4ffb3f5591d6f1abf4b876449bb9505b243c9b8b7b6d","c5682967da5f4a7bb1f4c22b98c1cd44aa37b2ec207b5480417f8037917a745d","c709080b22af82f1558a554b88216b4f3d3053eed2bb2d86494060ddaf19c2f6","c8b093e1a47283d03dfae048cfdda0159f73b088b31a2c90d48e10567e3e759f","ca0cc0fa14bb1275c29d44ab2a869c05d004735341a7ed135ed1c3d4f4780b90","d4c6700f66fc8f8273383bbc29d2f1e2ee324975aef01ee55cd95db2a9d54721","d82fd419fca62102016bfeaff3b278f3a75c9a7b47fdcd5b7fa9bb98da15387d","da3d965ec479cabdf9539017a84240746917e3351a66624651a49ac4400ed305","e764aff6fd7c7e9a6940172c905da97c9b9dfc49edf57177e1080c346c3d7e74","e8125adc6db65ac3baafc54e74f7f1cd41a75e115625944dfbdf7f54d4730908","e8998eca40dbc6c5e0f2dc31a4693a3ed3d1db9cd6f9da9e2fa837bf7f7141f8","e92611e19553205e6028b239c50bed21c27dc87b41d93a70dd62b48e876e1a58","eb582faa8c012b08f0a291b2a841619456c5d6a3706b339c9bb500ea65d7bcb2","eeafb3f5132b3042139a4d33e4c3dc5c97c85f1e0abd9db0d614ade81b22a26e","f350a8b8880bdf338f02de3c7e458ad8e32e0ab9760c343c6e76b6fd3025e786","f876a0b095985ef6194f73e1cee8ce9292446ba4ffa3e6e87b9b626f2a7ffd50"],"recordQualifiers":{},"scopeLabel":"ORPHA:26791","sourceIds":["ORPHA:26791"],"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:0009282/OMIM:231680","MONDO:0009282/ORPHA:26791"],"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":7,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":100,"sourceGroups":{"omim":32,"orphanet":58,"published":10}},"features":[{"hpoId":"HP:0003344","label":"3-Methylglutaric aciduria","primary":false},{"hpoId":"HP:0001999","label":"Abnormal facial shape","primary":false},{"hpoId":"HP:0001627","label":"Abnormal heart morphology","primary":false},{"hpoId":"HP:0000377","label":"Abnormal pinna morphology","primary":false},{"hpoId":"HP:0000078","label":"Abnormality of the genital system","primary":false},{"hpoId":"HP:0000924","label":"Abnormality of the skeletal system","primary":false},{"hpoId":"HP:0001941","label":"Acidosis","primary":false},{"hpoId":"HP:0001735","label":"Acute pancreatitis","primary":false},{"hpoId":"HP:0001284","label":"Areflexia","primary":false},{"hpoId":"HP:0011675","label":"Arrhythmia","primary":false},{"hpoId":"HP:0001638","label":"Cardiomyopathy","primary":false},{"hpoId":"HP:0006543","label":"Cardiorespiratory arrest","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0003234","label":"Decreased circulating carnitine concentration","primary":false},{"hpoId":"HP:0001410","label":"Decreased liver function","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000519","label":"Developmental cataract","primary":false},{"hpoId":"HP:0003551","label":"Difficulty climbing stairs","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0003647","label":"Electron transfer flavoprotein-ubiquinone oxidoreductase defect","primary":false},{"hpoId":"HP:0045045","label":"Elevated circulating acylcarnitine concentration","primary":false},{"hpoId":"HP:0003236","label":"Elevated circulating creatine kinase activity","primary":false},{"hpoId":"HP:0003530","label":"Elevated circulating glutaric acid concentration","primary":false},{"hpoId":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","primary":false},{"hpoId":"HP:0025734","label":"Elevated urinary 5-hydroxyhexanoic acid level","primary":false},{"hpoId":"HP:6000466","label":"Elevated urine 3-methyladipic acid level","primary":false},{"hpoId":"HP:0033213","label":"Elevated urine suberic acid level","primary":false},{"hpoId":"HP:0001298","label":"Encephalopathy","primary":false},{"hpoId":"HP:0003219","label":"Ethylmalonic aciduria","primary":false},{"hpoId":"HP:0003546","label":"Exercise intolerance","primary":false},{"hpoId":"HP:0009020","label":"Exercise-induced muscle fatigue","primary":false},{"hpoId":"HP:0030199","label":"Fatigable weakness of neck muscles","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0002909","label":"Generalized aminoaciduria","primary":false},{"hpoId":"HP:0002171","label":"Gliosis","primary":false},{"hpoId":"HP:0003150","label":"Glutaric aciduria","primary":false},{"hpoId":"HP:0003076","label":"Glycosuria","primary":false},{"hpoId":"HP:0002282","label":"Gray matter heterotopia","primary":false},{"hpoId":"HP:0002614","label":"Hepatic periportal necrosis","primary":false},{"hpoId":"HP:0001397","label":"Hepatic steatosis","primary":false},{"hpoId":"HP:0002240","label":"Hepatomegaly","primary":false},{"hpoId":"HP:0000348","label":"High forehead","primary":false},{"hpoId":"HP:0001987","label":"Hyperammonemia","primary":false},{"hpoId":"HP:0003307","label":"Hyperlordosis","primary":false},{"hpoId":"HP:0001639","label":"Hypertrophic cardiomyopathy","primary":false},{"hpoId":"HP:0001943","label":"Hypoglycemia","primary":false},{"hpoId":"HP:0001325","label":"Hypoglycemic coma","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002540","label":"Inability to walk","primary":false},{"hpoId":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","primary":false},{"hpoId":"HP:0012240","label":"Increased intramyocellular lipid droplets","primary":false},{"hpoId":"HP:0002254","label":"Intermittent diarrhea","primary":false},{"hpoId":"HP:0000952","label":"Jaundice","primary":false},{"hpoId":"HP:0003128","label":"Lactic acidosis","primary":false},{"hpoId":"HP:0003648","label":"Lacticaciduria","primary":false},{"hpoId":"HP:0000256","label":"Macrocephaly","primary":false},{"hpoId":"HP:0001942","label":"Metabolic acidosis","primary":false},{"hpoId":"HP:0012120","label":"Methylmalonic aciduria","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0003326","label":"Myalgia","primary":false},{"hpoId":"HP:0002018","label":"Nausea","primary":false},{"hpoId":"HP:0001302","label":"Pachygyria","primary":false},{"hpoId":"HP:0001733","label":"Pancreatitis","primary":false},{"hpoId":"HP:0000118","label":"Phenotypic abnormality","primary":false},{"hpoId":"HP:0000113","label":"Polycystic kidney dysplasia","primary":false},{"hpoId":"HP:0002421","label":"Poor head control","primary":false},{"hpoId":"HP:0003701","label":"Proximal muscle weakness","primary":false},{"hpoId":"HP:0000114","label":"Proximal tubulopathy","primary":false},{"hpoId":"HP:0002089","label":"Pulmonary hypoplasia","primary":false},{"hpoId":"HP:0000803","label":"Renal cortical cysts","primary":false},{"hpoId":"HP:0002098","label":"Respiratory distress","primary":false},{"hpoId":"HP:0002878","label":"Respiratory failure","primary":false},{"hpoId":"HP:0002091","label":"Restrictive ventilatory defect","primary":false},{"hpoId":"HP:0006582","label":"Reye syndrome-like episodes","primary":false},{"hpoId":"HP:0003201","label":"Rhabdomyolysis","primary":false},{"hpoId":"HP:0003691","label":"Shoulder blades sticking out (scapular winging)","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0003202","label":"Skeletal muscle atrophy","primary":false},{"hpoId":"HP:0000506","label":"Telecanthus","primary":false},{"hpoId":"HP:0002013","label":"Vomiting","primary":false},{"hpoId":"HP:0000260","label":"Wide anterior fontanel","primary":false}],"ledeHtml":"Glutaric acidemia type II is an inherited disorder that interferes with the body&#x27;s ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).","mondoId":"MONDO:0009282","records":[{"frequencyKind":"range","key":"07903e05b39a7f1ad3af2f2b47dde3063da640d3da57eee0acdca196892a2cab","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001298","is_excluded":false,"label":"Encephalopathy","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"09f34c09d6833315f79225771b236518b2111e251a0cb42a439af9fb6bd73be9","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000519","is_excluded":false,"label":"Developmental cataract","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0a80a2c3a4eedf2939faa54d0c3f1760adf109a60a55a99dc777f29ac95c1da3","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001639","is_excluded":false,"label":"Hypertrophic cardiomyopathy","onset_id":null,"reference":"PMID:32550677","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0acd0ceefbed544196118914d8f6674f90dde214569fcad75929dadd117deb0b","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003530","is_excluded":false,"label":"Elevated circulating glutaric acid concentration","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0b7f82191de086e926c6fc254ecd8f8cf01cda326b55e65c23a2c7807e4153b7","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0003546","is_excluded":false,"label":"Exercise intolerance","onset_id":null,"reference":"PMID:19249206","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0ca53f223f1f1f1177764077266badb5c0a9004125c6b29ae61617f43d7e41fe","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001942","is_excluded":false,"label":"Metabolic acidosis","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0d60da60234fff5b2298ef32853c27c8f74a9f427070016b8e455c1f711f3d5a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0012120","is_excluded":false,"label":"Methylmalonic aciduria","onset_id":null,"reference":"PMID:19249206","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0e765df506adcd286d4d7c40583c84b6334078829b77f98cec297d3ccb9c4da8","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0006582","is_excluded":false,"label":"Reye syndrome-like episodes","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"14b6ac553d4b3fde5e07c0effcfc3b30f9dea80e24fb76593546332cf3964c2e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"165cfbf392b797fde6b6503ac56b178a96dbb27fdc60ebbe2e21da012f58552d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1715ec95e92c9af8ef5e4123cfc393f0223e1c2ed12335bf841c3190ee0e185d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003691","is_excluded":false,"label":"Scapular winging","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1c5541f9b42eafe4ce46e049585e22f2ea3d9dc86d5cbb508d56abcf166dc40e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000348","is_excluded":false,"label":"High forehead","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1d0ed74d41c39a2a1d598d84be335592bb6d7560ec8541cb06ec212290fba0c2","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0025734","is_excluded":false,"label":"Elevated urinary 5-hydroxyhexanoic acid level","onset_id":null,"reference":"PMID:32550677","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2055531fd673623ca4630e4ee3fd835d9aa9cf9e3f5c07bbbade592af23f94ab","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001627","is_excluded":false,"label":"Abnormal heart morphology","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2683f1def81b1de55d4cd043b596f18fb59513605252a9a7875415c1b2ab092a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002171","is_excluded":false,"label":"Gliosis","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"27162351d9fa2890c349c4e3d118cbe99c6447abfabb0c1e965ad6410ec3c1fe","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0002254","is_excluded":false,"label":"Intermittent diarrhea","onset_id":null,"reference":"PMID:19249206","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"289425850f4746e10abfa7428c113e5d7c9ec3f6809bab01ea32cf3edd3136e7","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003076","is_excluded":false,"label":"Glycosuria","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"28a1a256225cca3437fa6e51b6fe92176481405d8777c960dc348bc876973fe3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2c0ff48cfd85361c894ee91103f3fb4ea92ad6ccd240a42e0fab8c0e399a78d4","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0006543","is_excluded":false,"label":"Cardiorespiratory arrest","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"36855de0e538663428b24bbb49b2066b60cd9a34436b0464a886e3fde525b6f3","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"36f80e223f46289ed563be0af312876d881e59af8ffab5bbe10ee9556ffdf594","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000924","is_excluded":false,"label":"Abnormality of the skeletal system","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"39b9dca20d61d684b8c93b9977238f6a3b6b2a97f27a8fce5f651ea23a9f0cb3","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000377","is_excluded":false,"label":"Abnormal pinna morphology","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3bcdb272ac905d1f552c0a8630510756cf6722afd574f7a25291a5f81bb78fd2","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002089","is_excluded":false,"label":"Pulmonary hypoplasia","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3f3ddc118f6bcf743e8effd06582b5d20ed6a1be2ff912db1f4efc8f4555f486","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:6000466","is_excluded":false,"label":"Elevated urine 3-methyladipic acid level","onset_id":null,"reference":"PMID:19249206","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3fe53368b77b55c774c63433e798b2269fc7ace2550c796b08bfc9f9b941432a","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001987","is_excluded":false,"label":"Hyperammonemia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4267f9a1009de751bde152b374e81c3b41a353af456b436f55764166945cd10a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000260","is_excluded":false,"label":"Wide anterior fontanel","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"42b7a171c1cdb15b7adca456c8a69fec687f735c79baf2b185ace3a6ff2b6f74","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"452fcdad75ba8e52066be9f4ba0a48cfea454fc59adaafa2e3726befab3cd045","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003307","is_excluded":false,"label":"Hyperlordosis","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4628ce11ab35b91a3dcdd047b6df7c528d56e965b15e0b084ce12fedb42eeb07","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001941","is_excluded":false,"label":"Acidosis","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4a54cf72a7598f7eafbf0e47da5253ce1f6dbd560f863ab397b87b64569c27c1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002171","is_excluded":false,"label":"Gliosis","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4f0cd453fac173d122b4dc2e6a07f30dc8498d4dd77e52f54fb438107b691728","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003219","is_excluded":false,"label":"Ethylmalonic aciduria","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4f5f40d8e89780882154726f6c63febb0423e450ac52acffe77081086c7cd58c","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001735","is_excluded":false,"label":"Acute pancreatitis","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"52a06ee2b281c905c09d35946028f840a516a790b07652b6ce01170d85cbd225","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000078","is_excluded":false,"label":"Abnormality of the genital system","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"53d0e380307fb13b965352b0e5abf05e813cb7e5b1186b6ee287230eb5cdc2ae","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003648","is_excluded":false,"label":"Lacticaciduria","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"53d6515c95117e31d9aaa331672501c27eee17a880b896e1b13346f94e8a6823","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001302","is_excluded":false,"label":"Pachygyria","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5697f4529cd04ab3a3b32af073d6846d3ae77ba4f2e820b1768736d2242fd475","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"60a7ef9a96b7bf304acccd43737d2478369869e671c93c09a695c8787a8167b4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002282","is_excluded":false,"label":"Gray matter heterotopia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"60bffeb4a26499325d02d489c6667b29764a47f83ac560c9ed9b2e214a1df916","raw":{"aspect":"P","body_system":null,"disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000118","is_excluded":false,"label":"Phenotypic abnormality","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6344eb78086b14c3ded9805081bb4cc5a95ec52e8c464a8286168da9674372f5","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"63f33992c9cfa688e8b15f5f5d06df88f714464a5e185c47db61588dd39a6e54","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011675","is_excluded":false,"label":"Arrhythmia","onset_id":null,"reference":"PMID:32550677","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"657c3b46436618304a958811c5c832316994e687b49bf730fa66acdd16f9fb93","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003202","is_excluded":false,"label":"Skeletal muscle atrophy","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6957b14a523bbe0a476f2bb53b17ecc01065c9694bd921e82a1e7fe19b63c87b","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"73b3e50c9ea097d37c35eef8f6e975c3c8aae04775f3b31d4b348b4ab05cfd4c","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002909","is_excluded":false,"label":"Generalized aminoaciduria","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"78482567d45d8f87108e4a757a0b9aab52f955fc39affbe1e5249fa9f2d0837f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7970fa3aa67ee4b307a89c8330224e5a24341a5b22267a71ddd479c0b50a52d5","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000113","is_excluded":false,"label":"Polycystic kidney dysplasia","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7ae4e4ce0333f3c203bb892d71e35d671cab99b8ff610ee0a4b0c0c50fc130e5","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001943","is_excluded":false,"label":"Hypoglycemia","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"841ba2a9512be29c01e64d2f6b31b4d33030bc55310511e704b433cca812475a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000348","is_excluded":false,"label":"High forehead","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"85c56962f38391fd3206fbd0cdd013d1697b0d452128c89408beba3441524bdf","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002910","is_excluded":false,"label":"Elevated circulating hepatic transaminase concentration","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"875991d1277db7007433626d79ddcd0504906c16dc4da2a8208cab079b6a586d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003701","is_excluded":false,"label":"Proximal muscle weakness","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8c0e98e59d75817293d250ddae0298a170fa56dd7f4eb28f038c783dc5063c15","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8d98757c692ec65f463a25643395277e6b5e4ab04615809efeeb8e38ebb0f3cd","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003326","is_excluded":false,"label":"Myalgia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8e34b0226af8b274768c30138441cf615cb0cfb31caa53b93d3cfdbaa38ca5f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001325","is_excluded":false,"label":"Hypoglycemic coma","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"926fd36f00e9061f92685d362fa70923dee1686ada367434e1ecaa15b01ca5d2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003551","is_excluded":false,"label":"Difficulty climbing stairs","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"95006adfd0799689203532e310586621e737b013bbe8ebe7a6f1684f1c36024d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000260","is_excluded":false,"label":"Wide anterior fontanel","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"97c9884a9b75c7540f72ef14d69ab0c48c1882c380e7988e1129a5edfffafc38","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003201","is_excluded":false,"label":"Rhabdomyolysis","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"98aa74ba4c96809bf2be42c1fe3148ac1f877e48c9dbfc2210f7c9da74c63e16","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002614","is_excluded":false,"label":"Hepatic periportal necrosis","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9b90945aa3f0b5bab422646f307e262eec5c98ec42ff4cc98c581161beb60e17","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002018","is_excluded":false,"label":"Nausea","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9de0e21b353a3c32f70b193c5138e4b688a44422960be543be8a29be747fc3f5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9e4e60a30293bc575f1cc3207ef869b226c16da0d5e0c72f83c609bd4477f86f","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000377","is_excluded":false,"label":"Abnormal pinna morphology","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a6e02fc56535a673fa9723a1504deb959aed4332dc7b7dcd91992905989e71d3","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002091","is_excluded":false,"label":"Restrictive ventilatory defect","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ace0dacac95d30221c86ebe1f09d3d50fa31d5e5b6b64f78e3864445663bf7d0","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000114","is_excluded":false,"label":"Proximal tubulopathy","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b1dc31fc3c6c00faca7248ec4bfed80b0d59c9df0175d197cdea1482f32039b2","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000078","is_excluded":false,"label":"Abnormality of the genital system","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b3b18dbe83da0bf53bb935461cce3fefa9b987051ec53764d4f337fd6d5753a8","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003219","is_excluded":false,"label":"Ethylmalonic aciduria","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b87f06dbbae3127758fdfd0666c8ce143db13e6792e405f2fd6c17b807516734","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001284","is_excluded":false,"label":"Areflexia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b9a94af96f33152abe2d7c7ac496edcb583bdffb812e40be344e51e10b3bc9ff","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0025435","is_excluded":false,"label":"Increased circulating lactate dehydrogenase concentration","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bcfe8f6fc4b7f1fecefeff90ecbc93e4ec18ebf519c7fae10d4c0f89ee35ade4","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000113","is_excluded":false,"label":"Polycystic kidney dysplasia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bee2c251f78e2b10f9560afd7b74cf9d404556263fc2c91b2f2a2025f54bf357","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bf291f8753b2e6aa65de15f0e2bcadf6631f4228fc791e3d65e4b76ab578b52f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0011675","is_excluded":false,"label":"Arrhythmia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c19ad69119d713e8702b435b97d07023343de877266d323085861372b88cd6fa","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002098","is_excluded":false,"label":"Respiratory distress","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c2936fb93201d957b2f253bb7bc414dc69317277067f57f6dc6cf1676614e9c8","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0003236","is_excluded":false,"label":"Elevated circulating creatine kinase activity","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c3e17ddd6cd34bbe203a1e892f238e566ada70b74fe32e1338fdaa0ad4ada7f2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c490f00df08cacf292f8d5c7499ccbf987c3e678115c559c36729912c97f12e7","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003344","is_excluded":false,"label":"3-Methylglutaric aciduria","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c4b70657740bf633b906c5206225cbd2bb93cf1b2a91d3374f0ff2cd09002ad3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c531f1ab25ef26af826f4ffb3f5591d6f1abf4b876449bb9505b243c9b8b7b6d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003128","is_excluded":false,"label":"Lactic acidosis","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c5682967da5f4a7bb1f4c22b98c1cd44aa37b2ec207b5480417f8037917a745d","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012240","is_excluded":false,"label":"Increased intramyocellular lipid droplets","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c709080b22af82f1558a554b88216b4f3d3053eed2bb2d86494060ddaf19c2f6","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003546","is_excluded":false,"label":"Exercise intolerance","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c8b093e1a47283d03dfae048cfdda0159f73b088b31a2c90d48e10567e3e759f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001638","is_excluded":false,"label":"Cardiomyopathy","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c8e9690f0770c0f5f8436b1a437fd759e3c0c6e0930093b68828863d5de58658","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003647","is_excluded":false,"label":"Electron transfer flavoprotein-ubiquinone oxidoreductase defect","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ca0cc0fa14bb1275c29d44ab2a869c05d004735341a7ed135ed1c3d4f4780b90","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002421","is_excluded":false,"label":"Poor head control","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cbfcfdff876a8d92ab2b4929589b76a52141e994ba474826962d1e789c025a57","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0033213","is_excluded":false,"label":"Elevated urine suberic acid level","onset_id":null,"reference":"PMID:19249206","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ce5068419f08544f36796c42cc190255de3fb81e41be79f903ff7361c47a32ce","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000803","is_excluded":false,"label":"Renal cortical cysts","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d131ccff0c3d37c2644ea9ec3801bef761a2f3f3f0e9f08f522587145c9902ae","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0003150","is_excluded":false,"label":"Glutaric aciduria","onset_id":null,"reference":"PMID:19249206;OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d2230844f7febc78507d25220397cd8cdbb220befdb975b9c8be182db10d1d36","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001733","is_excluded":false,"label":"Pancreatitis","onset_id":null,"reference":"PMID:19249206","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d4163e6ad26bc61e6f161a8a62f388d26ee796ba37f9238c3e3affbaca6cf23e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002614","is_excluded":false,"label":"Hepatic periportal necrosis","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d4407576be522ddfad8d44f93e3111e22554b03129326f31ec511da96daff39b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001999","is_excluded":false,"label":"Abnormal facial shape","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d4c6700f66fc8f8273383bbc29d2f1e2ee324975aef01ee55cd95db2a9d54721","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002240","is_excluded":false,"label":"Hepatomegaly","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d82fd419fca62102016bfeaff3b278f3a75c9a7b47fdcd5b7fa9bb98da15387d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002540","is_excluded":false,"label":"Inability to walk","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"da3d965ec479cabdf9539017a84240746917e3351a66624651a49ac4400ed305","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003234","is_excluded":false,"label":"Decreased circulating carnitine concentration","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"dc4f59355fbe0e5b297e2a45a8021518cae16e742469e5f75fa0003b50d51eb3","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002013","is_excluded":false,"label":"Vomiting","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ddc2dc58bb57af78051781699b2071bd48e08d1f8ea92c3104415cb9b401bf1a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e764aff6fd7c7e9a6940172c905da97c9b9dfc49edf57177e1080c346c3d7e74","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001943","is_excluded":false,"label":"Hypoglycemia","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e8125adc6db65ac3baafc54e74f7f1cd41a75e115625944dfbdf7f54d4730908","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002878","is_excluded":false,"label":"Respiratory failure","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e8998eca40dbc6c5e0f2dc31a4693a3ed3d1db9cd6f9da9e2fa837bf7f7141f8","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000256","is_excluded":false,"label":"Macrocephaly","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e92611e19553205e6028b239c50bed21c27dc87b41d93a70dd62b48e876e1a58","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003150","is_excluded":false,"label":"Glutaric aciduria","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eb582faa8c012b08f0a291b2a841619456c5d6a3706b339c9bb500ea65d7bcb2","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001410","is_excluded":false,"label":"Decreased liver function","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ebf78563538b1c0dd8ecbdbead5dbceaf94c90be214e70544789e9432d540d15","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000506","is_excluded":false,"label":"Telecanthus","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"eeafb3f5132b3042139a4d33e4c3dc5c97c85f1e0abd9db0d614ade81b22a26e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030199","is_excluded":false,"label":"Fatigable weakness of neck muscles","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f350a8b8880bdf338f02de3c7e458ad8e32e0ab9760c343c6e76b6fd3025e786","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0009020","is_excluded":false,"label":"Exercise-induced muscle fatigue","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f876a0b095985ef6194f73e1cee8ce9292446ba4ffa3e6e87b9b626f2a7ffd50","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:26791","disease_name":"Multiple acyl-CoA dehydrogenase deficiency","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0045045","is_excluded":false,"label":"Elevated circulating acylcarnitine concentration","onset_id":null,"reference":"ORPHA:26791","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fda8c48ef69f7ab19e12aaba86def8862aeb1f08ba35859d6bdb3357db483044","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:231680","disease_name":"Multiple acyl-CoA dehydrogenation deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001397","is_excluded":false,"label":"Hepatic steatosis","onset_id":null,"reference":"OMIM:231680","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii\">Glutaric acidemia type II</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in any of three genes, ETFA, ETFB, and ETFDH, can result in glutaric acidemia type II. The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. The ETFDH gene provides instructions for making another enzyme called electron transfer flavoprotein dehydrogenase.</p><p>Glutaric acidemia type II is caused by a deficiency in either of these two enzymes. Electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase are normally active in the mitochondria, which are the energy-producing centers of cells. These enzymes help break down proteins and fats to provide energy for the body. When one of the enzymes is defective or missing, partially broken down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II.</p><p>People with mutations that result in a complete loss of either enzyme produced from the ETFA, ETFB or ETFDH genes are likely to experience the most severe symptoms of glutaric acidemia type II. Mutations that allow the enzyme to retain some activity may result in milder forms of the disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Glutaric acidemia type II?"},{"bodyHtml":"<p>Glutaric acidemia type II usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood glucose (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses.</p><p>In the most severe cases of glutaric acidemia type II, affected individuals may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet.</p><p>Some affected individuals have less severe symptoms that begin later in childhood or in adulthood. In the mildest forms of glutaric acidemia type II, muscle weakness developing in adulthood may be the first sign of the disorder.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"glutaric-acidemia-type-ii","sourceDocuments":[{"name":"Glutaric acidemia type II","reviewed":"2008-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:49.394312+00:00","label":"Causes","pageSha256":"7fe8be3d55cf5bb629d849eb12059fc8981e7efb1a491e483725ed63030a6169","sourceUrl":"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii"}],"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":"Glutaric acidemia type II"},"schemaVersion":1}