{"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:0010651/OMIM:309400","label":"Menkes disease","mondoId":"MONDO:0010651","onsetQualifier":null,"recordKeys":["09ca37fe9aed055167ee76f9140758549d12e20e92de0a076f8ae1a02cd6e567","0c3993963cc61da9a1b7b93ecbd450e009ec62b892749eb2795eebdbd12bccf8","1244d621852d7b5f95bb90827e5ff62421b3a8e1fd6ad3e785e1f62245e4824f","1d63e0e755813c8f28a9ef2c66e4be086009add09de5246832d9a814abb85f07","1fa2b57c14b4b89d78a84aa6711434fe0c233358a224003a80542a7ed21a0cdd","2119a612b8f3dcfe85f4c0f80a258820ee0795eeef81f8fbe7ac09048a345285","2f291ccfad4ee6a7f990a91ab7038a29701be06fc5446b08f20ed7e051a77ad1","56cec86f87c8ca7391cedae9aa3731d83131748fcc7f8c14e896f0a55694adf3","5b4aced365356f3e3377e8a12cfff9fde209d743880ac7d90192c70dbf7cd55c","5c7ae77c5489ffd63f1025a9bc94901d7344be817ec5b0ad7b0d64d34dec57c0","71f44cb23319877eedaab4f4e3e0f653165f2e894a9e2dc673c38484ecad41bd","77316c17e8ee0696b44453f057637af7010337fbac5cc4602d7841398ce730ff","7d286941c8c3b13c610c66643a302eb426781c0831c2be8104ac4dd9c17e0e38","7eb77671961da136f203f2b8e5333f100507af8f5a958bf079679a62534c656d","7ec6b1d5d3288bb4bcd31f10a5f5be527d6d32953c87452530f321a6323b5987","9710b0b89484850f70eb1d6ba668e1160f78b56d3870747ab48fa5b8852d8858","a64719963edb0937c4ad1d99c6f2053599ccb16ed42221e427f32131ea5be42a","a8780ef49c7832973d850909d962478610cbcae9bbaeee45ecef12a24f24fb55","b055e62afd94d0194d18e6e460d29f12ce65c0609e0ddcea46b4601c51b7ae0f","c569684146c9a7d56f5deb9fb0c3e8eabd233e9d7c1ff88c82abd10ba2d37d74","ccd31e5b088b0127abeecdd93376df5ec77f5a13cf49c8d9ec42230b67e69551","d19d1c548bf3eb29b9ebddd9c4e12e277ca21f6a416e638a67088096959e19e0","dc89d2b071d329b0be11a6252222726f51355ebb1a2157f5d9ca56d8356d6f21","df702ea7929e0b52c04569db72470eef64415d934cefc3f863cfbd1f249d5802","ebb3f4858211f054b85ea0d9fd8f0d2abdfb3fa298793df474e7614bf6f4db8d","ece1ef9e4a4ed922d00eddb61317c1636654674bae2141f02ea7d95373f513e7"],"recordQualifiers":{},"scopeLabel":"OMIM:309400","sourceIds":["OMIM:309400"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010651/ORPHA:565","label":"Menkes disease","mondoId":"MONDO:0010651","onsetQualifier":null,"recordKeys":["03ffe035d518fe00972711b880745ef0ed1f2233ab0fc318ceb13a472e1625b3","045e24e90fa822cc929e92f5b24b662895fd66ea21681c97b0edd7dbf54766a6","0e354c4e0450679add8c3f82be8eb33aaf7a37780c8bc5b66a35023413255c14","0f0dd4b06b896ede97f6d63e1b8c3e08d8ab884b9d5d06e1f060b9adeeb9bf10","108fe540884f491519a3861e14287d5a7da180c0ed10674230296680da813125","111a814d502560926d452ff96099b398ff6813eae63c9fbd19616c2aed5d19d2","1130b8b701c96f97bed02ed32443a047c1b563edde00c3c97fb936674db50bc4","18aa3642999da15a2a724066076e86cc163ec97676005318359a2041897f8702","18c90a6dc80ec2644e54ca9f6e752142d5515c755dd45c90de58421e41b7952f","199cd6c1aee967410e3ea23f1a6e08e7431d984f6b887e7a3aafbf590595dd42","1fe2e2c3d386eecd27f911bef5a40a9977f5d77ac642ffec1319975a4784c1d4","258c1edd828c666728a4897a6aa1c5d6c40bfaa071bbeb16522c01fcc78ad912","273435cf701ed66756fae5a32f426115110606d91051d8773c82b2f0fc20b1c3","30298dec54bda1d696a7fb181ded311b484ce520cf9e7715834f7e804d6c0b47","34c46ded63968ef01e05d594f63580a3bf9987cb1a28dec3a64f9860a2baef9a","44070b531501c682dd9c31151114fd5ae11f88e918d2c54abd20b776e31361ce","4ac1211ec182072a6f72f6d58527305cfa14c199012c996cc2256e1a15f3f10b","585090094c1184fd22d989289c229400b6b325590ef1ea59df3e73f2c6f51289","60368aa840cef5e0a693eda1e01dde7c94370191b704f8036257dc3000eb0aa0","69ed467d096b1e12cfbd5a0293dfcdb94ab094b7fc2157192b8c3248704d0283","6c5839d866fe81016b9c46a9c27130e52cddb63726d0f4497e80d43029854062","6ec844e3ecb23bed0d5e0b3680c73503f4b5d22e8953eb51d7dd0d279062b7b6","743ce4fdb9e1dc19a6f9ff3b214ecf079d7b7ca38c5afb564554449d174f2e7d","7a16bfecbf2d64e3290177b12dd58dcf989acabdbf692088e58e98b72a2ab7a1","7e9fbabd6e266a6c2dbe2cbf689d1a08c9d2883be5d3a4d468ee6316ddbcff65","806b7ba2c603aa9482d5df93269c1444c5dc61831dc0201350732ddab026bc96","8aec103755e2aac6057d73d3750ca66aa6f3fb74d3b721b20ad793f1b6a65c9f","8c49862ad7685c5d70f7c58a90ac7155c1109405db1dfca9913359602e8884bc","8d126358fc82decc3da06ddb5c9dc2f73c38cb9f57207ad390900ddf55cb5530","8d3846ad95c85d8895e2bdb6c05689a10fb3b484ee60415af51c12ebed2363e8","8f695280a48c4230d05d0aa7259c0543ff5c2af449bb4c19f881287f4eaa8187","91c7436de2da4839f60bf460b65a122459bda211d47a9a7eab9c4a82a6bdd09c","9928abc8582f9f3a9fcc98b706277d1c0461e217c431222556e57aa16f277b73","a3fa7dea30489ac0a9f63c30a6e8c7bece16c70f01e251da106bdb64fdee624a","a4237a9c290b9fb76507ccaf13c001f4a9f269c2cc91f8d45071de317040e93d","a705656778a5caae18a1236ff2c6d5be708fcba0b5d26ba41330932e75eae4b6","a7242836fb90f8e8d536fd7a7f02346cd123cb1bfadc7c2fb689632b47baa707","aaaeb46fbdc80e2c427737d49fa2252ded8bcf8f119341766ef684e82262a3c8","b0cb9dcf2e117f225b9e8218a90a29073378a667d4842e2c8866278ca2da169d","b4fdbc3269cd62ef2ff971671c7a1d66f1fa618fcc1ebe3feff91d51fd0ea3c8","b8e19593fa003892bc9a5bb88f6e777fb97309954bef44daea865ea0851028e9","c196cdca9eb8a0e95d5b20b9129204d1de384e7d39ebcac32dc9d4582191bd84","c60f0e704076d48371cc5d9cecf6a030a5fd39a3d059367c3a9444fa571cbd9e","c6fc670684dea544975f55ede1826a4d0de32d8ebf814924ebcce84568acec28","cb0c9b3eeddf7896a04b31de970153b5ee2368fb3d2b4626008e847f12ff31a3","cba54d6b13fd729b24a522d89a9c542da606b176ed7105333c9fe8e2174a5bd1","cbe07b5d2a3c274934c24315a27111f72bf28de122fd29f2481a929c5ff2eacf","d125ea9dae1134a56b886d409fe915bf196d854a8fef7afb8b3a3192e70bfd14","d85340091899cb0ce5f1d4ba3e639d5b80af012e947b63cbb906fdf180d1a8b9","dd609444053abd0d146555bb91bf8a3a5543e4f193ba8f719620d46d6b5f0fad","e1f168f0451ef450cba0b9f246cf8e4a76a07122307a1770b6d3c1d889811c15","ed019a09a4b848af22fee8a12d753f2cd7da3237509e32ca596a08af141918ad","f1a5315bc0b75091412cc0aafbfa3dc5c4cd91c1eb9be110ced7491811b76eb0","f8d039e5cfc6910a3e081eec5630eeaaf871949b4ce283a09b7c858fcbd95ec5","fd2aacb6e3c71ec5673325f3d0358308d718f274aba669805ec3e92174f364cb"],"recordQualifiers":{},"scopeLabel":"ORPHA:565","sourceIds":["ORPHA:565"],"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:0010651/OMIM:309400","MONDO:0010651/ORPHA:565"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

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.

"},"coverage":{"countRecords":11,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":81,"sourceGroups":{"omim":14,"orphanet":55,"published":12}},"features":[{"hpoId":"HP:0005344","label":"Abnormal carotid artery morphology","primary":false},{"hpoId":"HP:0000944","label":"Abnormal metaphysis morphology","primary":false},{"hpoId":"HP:0000174","label":"Abnormal palate morphology","primary":false},{"hpoId":"HP:0001596","label":"Alopecia","primary":false},{"hpoId":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","primary":false},{"hpoId":"HP:0100545","label":"Arterial stenosis","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000987","label":"Atypical scarring of skin","primary":false},{"hpoId":"HP:0003487","label":"Babinski sign","primary":false},{"hpoId":"HP:0000015","label":"Bladder diverticulum","primary":false},{"hpoId":"HP:0006487","label":"Bowing of the long bones","primary":false},{"hpoId":"HP:0000248","label":"Brachycephaly","primary":false},{"hpoId":"HP:0002299","label":"Brittle hair","primary":false},{"hpoId":"HP:0000934","label":"Chondrocalcinosis","primary":false},{"hpoId":"HP:0002072","label":"Chorea (involuntary movements)","primary":false},{"hpoId":"HP:0000973","label":"Cutis laxa","primary":false},{"hpoId":"HP:0010837","label":"Decreased circulating ceruloplasmin concentration","primary":false},{"hpoId":"HP:0002376","label":"Developmental regression","primary":false},{"hpoId":"HP:0000958","label":"Dry skin","primary":false},{"hpoId":"HP:0011097","label":"Epileptic spasm","primary":false},{"hpoId":"HP:0100777","label":"Exostoses","primary":false},{"hpoId":"HP:0012378","label":"Fatigue","primary":false},{"hpoId":"HP:0008872","label":"Feeding difficulties in infancy","primary":false},{"hpoId":"HP:0000293","label":"Full cheeks","primary":false},{"hpoId":"HP:0002239","label":"Gastrointestinal hemorrhage","primary":false},{"hpoId":"HP:0100790","label":"Hernia","primary":false},{"hpoId":"HP:0000974","label":"Hyperextensible skin","primary":false},{"hpoId":"HP:0001276","label":"Hypertonia","primary":false},{"hpoId":"HP:0001943","label":"Hypoglycemia","primary":false},{"hpoId":"HP:0005599","label":"Hypopigmentation of hair","primary":false},{"hpoId":"HP:0001010","label":"Lighter skin pigmentation","primary":false},{"hpoId":"HP:0002045","label":"Hypothermia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002521","label":"Hypsarrhythmia","primary":false},{"hpoId":"HP:0000023","label":"Inguinal hernia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0002170","label":"Intracranial hemorrhage","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0002024","label":"Malabsorption","primary":false},{"hpoId":"HP:0000298","label":"Mask-like facies","primary":false},{"hpoId":"HP:0005054","label":"Metaphyseal spurs","primary":false},{"hpoId":"HP:0003016","label":"Metaphyseal widening","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0000774","label":"Narrow chest","primary":false},{"hpoId":"HP:0002017","label":"Nausea and vomiting","primary":false},{"hpoId":"HP:0002754","label":"Osteomyelitis","primary":false},{"hpoId":"HP:0000939","label":"Osteoporosis","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0002421","label":"Poor head control","primary":false},{"hpoId":"HP:0006579","label":"Prolonged neonatal jaundice","primary":false},{"hpoId":"HP:0000269","label":"Prominent occiput","primary":false},{"hpoId":"HP:0002757","label":"Recurrent fractures","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0100806","label":"Sepsis","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0008070","label":"Sparse hair","primary":false},{"hpoId":"HP:0001257","label":"Spasticity","primary":false},{"hpoId":"HP:0007420","label":"Spontaneous hematomas","primary":false},{"hpoId":"HP:0008368","label":"Tarsal synostosis","primary":false},{"hpoId":"HP:0001072","label":"Thickened skin","primary":false},{"hpoId":"HP:0001537","label":"Umbilical hernia","primary":false},{"hpoId":"HP:0002617","label":"Vascular dilatation","primary":false},{"hpoId":"HP:0005293","label":"Venous insufficiency","primary":false},{"hpoId":"HP:0002224","label":"Woolly hair","primary":false},{"hpoId":"HP:0002645","label":"Wormian bones","primary":false}],"ledeHtml":"Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.","mondoId":"MONDO:0010651","records":[{"frequencyKind":"range","key":"03ffe035d518fe00972711b880745ef0ed1f2233ab0fc318ceb13a472e1625b3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"045e24e90fa822cc929e92f5b24b662895fd66ea21681c97b0edd7dbf54766a6","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008070","is_excluded":false,"label":"Sparse hair","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"09ca37fe9aed055167ee76f9140758549d12e20e92de0a076f8ae1a02cd6e567","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0010837","is_excluded":false,"label":"Decreased circulating ceruloplasmin concentration","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0c3993963cc61da9a1b7b93ecbd450e009ec62b892749eb2795eebdbd12bccf8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002521","is_excluded":false,"label":"Hypsarrhythmia","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0e354c4e0450679add8c3f82be8eb33aaf7a37780c8bc5b66a35023413255c14","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005599","is_excluded":false,"label":"Hypopigmentation of hair","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0f0dd4b06b896ede97f6d63e1b8c3e08d8ab884b9d5d06e1f060b9adeeb9bf10","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002072","is_excluded":false,"label":"Chorea","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"108fe540884f491519a3861e14287d5a7da180c0ed10674230296680da813125","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"111a814d502560926d452ff96099b398ff6813eae63c9fbd19616c2aed5d19d2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1130b8b701c96f97bed02ed32443a047c1b563edde00c3c97fb936674db50bc4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0006579","is_excluded":false,"label":"Prolonged neonatal jaundice","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1244d621852d7b5f95bb90827e5ff62421b3a8e1fd6ad3e785e1f62245e4824f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000973","is_excluded":false,"label":"Cutis laxa","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"18aa3642999da15a2a724066076e86cc163ec97676005318359a2041897f8702","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002170","is_excluded":false,"label":"Intracranial hemorrhage","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"18c90a6dc80ec2644e54ca9f6e752142d5515c755dd45c90de58421e41b7952f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002617","is_excluded":false,"label":"Vascular dilatation","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"199cd6c1aee967410e3ea23f1a6e08e7431d984f6b887e7a3aafbf590595dd42","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1d63e0e755813c8f28a9ef2c66e4be086009add09de5246832d9a814abb85f07","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0005054","is_excluded":false,"label":"Metaphyseal spurs","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1fa2b57c14b4b89d78a84aa6711434fe0c233358a224003a80542a7ed21a0cdd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0003487","is_excluded":false,"label":"Babinski sign","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1fe2e2c3d386eecd27f911bef5a40a9977f5d77ac642ffec1319975a4784c1d4","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002239","is_excluded":false,"label":"Gastrointestinal hemorrhage","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2119a612b8f3dcfe85f4c0f80a258820ee0795eeef81f8fbe7ac09048a345285","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008070","is_excluded":false,"label":"Sparse hair","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"258c1edd828c666728a4897a6aa1c5d6c40bfaa071bbeb16522c01fcc78ad912","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005344","is_excluded":false,"label":"Abnormal carotid artery morphology","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"273435cf701ed66756fae5a32f426115110606d91051d8773c82b2f0fc20b1c3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008368","is_excluded":false,"label":"Tarsal synostosis","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2f291ccfad4ee6a7f990a91ab7038a29701be06fc5446b08f20ed7e051a77ad1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"30298dec54bda1d696a7fb181ded311b484ce520cf9e7715834f7e804d6c0b47","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000293","is_excluded":false,"label":"Full cheeks","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"34c46ded63968ef01e05d594f63580a3bf9987cb1a28dec3a64f9860a2baef9a","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000958","is_excluded":false,"label":"Dry skin","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"44070b531501c682dd9c31151114fd5ae11f88e918d2c54abd20b776e31361ce","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4ac1211ec182072a6f72f6d58527305cfa14c199012c996cc2256e1a15f3f10b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006487","is_excluded":false,"label":"Bowing of the long bones","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"56cec86f87c8ca7391cedae9aa3731d83131748fcc7f8c14e896f0a55694adf3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"585090094c1184fd22d989289c229400b6b325590ef1ea59df3e73f2c6f51289","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5b4aced365356f3e3377e8a12cfff9fde209d743880ac7d90192c70dbf7cd55c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5c7ae77c5489ffd63f1025a9bc94901d7344be817ec5b0ad7b0d64d34dec57c0","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"60368aa840cef5e0a693eda1e01dde7c94370191b704f8036257dc3000eb0aa0","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001072","is_excluded":false,"label":"Thickened skin","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"69ed467d096b1e12cfbd5a0293dfcdb94ab094b7fc2157192b8c3248704d0283","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005293","is_excluded":false,"label":"Venous insufficiency","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6c5839d866fe81016b9c46a9c27130e52cddb63726d0f4497e80d43029854062","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6ec844e3ecb23bed0d5e0b3680c73503f4b5d22e8953eb51d7dd0d279062b7b6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002757","is_excluded":false,"label":"Recurrent fractures","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"71f44cb23319877eedaab4f4e3e0f653165f2e894a9e2dc673c38484ecad41bd","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002170","is_excluded":false,"label":"Intracranial hemorrhage","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"743ce4fdb9e1dc19a6f9ff3b214ecf079d7b7ca38c5afb564554449d174f2e7d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002645","is_excluded":false,"label":"Wormian bones","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"77316c17e8ee0696b44453f057637af7010337fbac5cc4602d7841398ce730ff","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001596","is_excluded":false,"label":"Alopecia","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7a16bfecbf2d64e3290177b12dd58dcf989acabdbf692088e58e98b72a2ab7a1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001943","is_excluded":false,"label":"Hypoglycemia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7d286941c8c3b13c610c66643a302eb426781c0831c2be8104ac4dd9c17e0e38","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001010","is_excluded":false,"label":"Hypopigmentation of the skin","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7e9fbabd6e266a6c2dbe2cbf689d1a08c9d2883be5d3a4d468ee6316ddbcff65","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000939","is_excluded":false,"label":"Osteoporosis","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7eb77671961da136f203f2b8e5333f100507af8f5a958bf079679a62534c656d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7ec6b1d5d3288bb4bcd31f10a5f5be527d6d32953c87452530f321a6323b5987","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"806b7ba2c603aa9482d5df93269c1444c5dc61831dc0201350732ddab026bc96","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100806","is_excluded":false,"label":"Sepsis","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8aec103755e2aac6057d73d3750ca66aa6f3fb74d3b721b20ad793f1b6a65c9f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000774","is_excluded":false,"label":"Narrow chest","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8c49862ad7685c5d70f7c58a90ac7155c1109405db1dfca9913359602e8884bc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000269","is_excluded":false,"label":"Prominent occiput","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8d126358fc82decc3da06ddb5c9dc2f73c38cb9f57207ad390900ddf55cb5530","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002376","is_excluded":false,"label":"Developmental regression","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8d3846ad95c85d8895e2bdb6c05689a10fb3b484ee60415af51c12ebed2363e8","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002017","is_excluded":false,"label":"Nausea and vomiting","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8f695280a48c4230d05d0aa7259c0543ff5c2af449bb4c19f881287f4eaa8187","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002224","is_excluded":false,"label":"Woolly hair","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"91c7436de2da4839f60bf460b65a122459bda211d47a9a7eab9c4a82a6bdd09c","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010318","is_excluded":false,"label":"Aplasia/Hypoplasia of the abdominal wall musculature","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9710b0b89484850f70eb1d6ba668e1160f78b56d3870747ab48fa5b8852d8858","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002299","is_excluded":false,"label":"Brittle hair","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9928abc8582f9f3a9fcc98b706277d1c0461e217c431222556e57aa16f277b73","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a3fa7dea30489ac0a9f63c30a6e8c7bece16c70f01e251da106bdb64fdee624a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000987","is_excluded":false,"label":"Atypical scarring of skin","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a4237a9c290b9fb76507ccaf13c001f4a9f269c2cc91f8d45071de317040e93d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002754","is_excluded":false,"label":"Osteomyelitis","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a64719963edb0937c4ad1d99c6f2053599ccb16ed42221e427f32131ea5be42a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001276","is_excluded":false,"label":"Hypertonia","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a705656778a5caae18a1236ff2c6d5be708fcba0b5d26ba41330932e75eae4b6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a7242836fb90f8e8d536fd7a7f02346cd123cb1bfadc7c2fb689632b47baa707","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a8780ef49c7832973d850909d962478610cbcae9bbaeee45ecef12a24f24fb55","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"aaaeb46fbdc80e2c427737d49fa2252ded8bcf8f119341766ef684e82262a3c8","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000023","is_excluded":false,"label":"Inguinal hernia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b055e62afd94d0194d18e6e460d29f12ce65c0609e0ddcea46b4601c51b7ae0f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011097","is_excluded":false,"label":"Epileptic spasm","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b0cb9dcf2e117f225b9e8218a90a29073378a667d4842e2c8866278ca2da169d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000298","is_excluded":false,"label":"Mask-like facies","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b4fdbc3269cd62ef2ff971671c7a1d66f1fa618fcc1ebe3feff91d51fd0ea3c8","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100777","is_excluded":false,"label":"Exostoses","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b8e19593fa003892bc9a5bb88f6e777fb97309954bef44daea865ea0851028e9","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001537","is_excluded":false,"label":"Umbilical hernia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c196cdca9eb8a0e95d5b20b9129204d1de384e7d39ebcac32dc9d4582191bd84","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007420","is_excluded":false,"label":"Spontaneous hematomas","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c569684146c9a7d56f5deb9fb0c3e8eabd233e9d7c1ff88c82abd10ba2d37d74","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002045","is_excluded":false,"label":"Hypothermia","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c60f0e704076d48371cc5d9cecf6a030a5fd39a3d059367c3a9444fa571cbd9e","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100545","is_excluded":false,"label":"Arterial stenosis","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c6fc670684dea544975f55ede1826a4d0de32d8ebf814924ebcce84568acec28","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cb0c9b3eeddf7896a04b31de970153b5ee2368fb3d2b4626008e847f12ff31a3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000015","is_excluded":false,"label":"Bladder diverticulum","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cba54d6b13fd729b24a522d89a9c542da606b176ed7105333c9fe8e2174a5bd1","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"cbe07b5d2a3c274934c24315a27111f72bf28de122fd29f2481a929c5ff2eacf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000944","is_excluded":false,"label":"Abnormal metaphysis morphology","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ccd31e5b088b0127abeecdd93376df5ec77f5a13cf49c8d9ec42230b67e69551","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002645","is_excluded":false,"label":"Wormian bones","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d125ea9dae1134a56b886d409fe915bf196d854a8fef7afb8b3a3192e70bfd14","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000174","is_excluded":false,"label":"Abnormal palate morphology","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d19d1c548bf3eb29b9ebddd9c4e12e277ca21f6a416e638a67088096959e19e0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000939","is_excluded":false,"label":"Osteoporosis","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d85340091899cb0ce5f1d4ba3e639d5b80af012e947b63cbb906fdf180d1a8b9","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002024","is_excluded":false,"label":"Malabsorption","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"dc89d2b071d329b0be11a6252222726f51355ebb1a2157f5d9ca56d8356d6f21","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dd609444053abd0d146555bb91bf8a3a5543e4f193ba8f719620d46d6b5f0fad","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002045","is_excluded":false,"label":"Hypothermia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"df702ea7929e0b52c04569db72470eef64415d934cefc3f863cfbd1f249d5802","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002421","is_excluded":false,"label":"Poor head control","onset_id":null,"reference":"PMID:34430447","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e1f168f0451ef450cba0b9f246cf8e4a76a07122307a1770b6d3c1d889811c15","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012378","is_excluded":false,"label":"Fatigue","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ebb3f4858211f054b85ea0d9fd8f0d2abdfb3fa298793df474e7614bf6f4db8d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ece1ef9e4a4ed922d00eddb61317c1636654674bae2141f02ea7d95373f513e7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:309400","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0003016","is_excluded":false,"label":"Metaphyseal widening","onset_id":null,"reference":"OMIM:309400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ed019a09a4b848af22fee8a12d753f2cd7da3237509e32ca596a08af141918ad","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f1a5315bc0b75091412cc0aafbfa3dc5c4cd91c1eb9be110ced7491811b76eb0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100790","is_excluded":false,"label":"Hernia","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f8d039e5cfc6910a3e081eec5630eeaaf871949b4ce283a09b7c858fcbd95ec5","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000974","is_excluded":false,"label":"Hyperextensible skin","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"fd2aacb6e3c71ec5673325f3d0358308d718f274aba669805ec3e92174f364cb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:565","disease_name":"Menkes disease","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000934","is_excluded":false,"label":"Chondrocalcinosis","onset_id":null,"reference":"ORPHA:565","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Menkes syndrome?"},{"bodyHtml":"

Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"menkes-syndrome","sourceDocuments":[{"name":"Menkes syndrome","reviewed":"2009-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:16.112831+00:00","label":"Causes","pageSha256":"892ceba865c6a1070746863ea9a0302993d00509e1d0a3ef192408a78ec1df15","sourceUrl":"https://medlineplus.gov/genetics/condition/menkes-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/menkes-syndrome"}],"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":"Menkes syndrome"},"schemaVersion":1}