{"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:0024564/OMIM:612199","label":"Cerebroretinal microangiopathy with calcifications and cysts 1","mondoId":"MONDO:0024564","onsetQualifier":null,"recordKeys":["092a53258bce895982f3c4e9ffe5cc87669184cca4cd6e15033016339fc9659d","0ade641b6a6a99c17372f8bca3c9ff819c0185966745b94e2f99ebdb3707b43d","12ba63f8d763b95f510b10a9e370792e092eb0613f5d3a2c6caa0d311ac9ba75","15c84815a447f14995fe3100aea0de614540beff6326b686a1fd510be3707284","163678ce77a49ceeaf6b2e18da27412b496b1268d7452b8ec283258e24fad451","18e9749e9fbc0f43b9d10fe6f4fde98331ce7cfcba481acd5ed060bbfb9fa2cf","19c00479222448547f27cd74b46018583421f9e1f6902a9e2e1aaa80a1c0f5ee","19db55e9a7a3718d03857d77fb278b1642822663b229fc39d3d157576dac26a7","1f3dc2c9feaece2a2e92323de840cf98640e03355500b21a6619bb27fa7b9a43","25105ef1348c6df64881bbb8e51b309158ab38de8d60d31e61cbb6361213568d","270b388f7ca52647ec7d047e61c230f7cafc098a7a2ccf003a6b025fb8df852b","31e6dba42dc57ca05c2313b21e91b5e7403c9c912d7b3594600c128bb99c1bc4","363c6a39373b9489968359fee1b25ab1a030637f1acec278896ff4026c991489","4449fffec6f9d17029fa41b382c41e3207e10f6589ed9a4d1d692f40053ac1f6","56f143876d30b22559977342495dcf8e73100ab31e975e539c22c37617abf5ef","5ae62c4697989f739b2278329007b6a0e48463487eff53d5f7f0049ca5ac5d60","5bdbb02b2631f90e9a162b072e30665747f39630cdec5848803d1c216a66a999","5d84d2c7b8ae3578859f39978ea386bc1494d5bbaa4b45d085583351dd5d8e54","63de064d1b0adf9ce4e2687a11e6c92a26d28911702589f21fe492654addf3df","67d7b6ee61aab131e15b4b758d52af933dc4789e7fd376c4c93421f456da134a","681879f2c042304c782a6e62c44812f37c33696fc24cf3d50423a5a89abd6072","70c7a2b90d118513605ee508ec37a7e1588ba43ec05cebd5125b68dfdac9aa2d","7494024fc1cfe665d3c552d6b7414efbd82daa4087c2f9daabe02cb77980e8d8","7933f5041f53532b6b36b53dbcfa1c12cfac1c541262223117a167895114f3aa","7b64728cc4562197958cfdf427dbb9ee2d7afb9ff69a46a839086a178f1fa550","7bd38d6728a494ecd23ea95ef8dfc0af0acbf8f5f170b9fa7a7457966052c6b0","8469837b35ef664c07692a6edb748ef7372cb7584c0efd948e97f93a2f594af5","8734ba92c9b6726ad1e416582f671685d5045e0143812fa4308bbc0509c31c9f","8cd7f7c2835cab101fc318164287c7db32da4a6502b00139a38506ffd6726fbf","9eba2167a647f08130fc18f6ffa78f024de73b53bdf5a25ec33d2c45a43f31f2","a33a38e6ef7350d9c4501959e9c489429da109aef66a99eee515d74aae0d4a1f","b1eb6cd4ba4ab27d2255d8a6e21e15d9c997f3ac2efc08d282bd13e5c1e58b75","c4371733d70d2f2ce7dc410f79d9cef4cdc8e8e15e61050d37a2ab5b89c2a72b","c65d101f19688694d555a76bf38053be5672cd8879237bb21f2ba92ca14649e5","ca50bb3b88097f5c816d448f285867f2c9a46d3d89fce2bba333534f59788973","dc87ab4f0caba766337c71449796f480e4bbd3678497e344c714d786d58e2197","e276ab0bfc9558f7ee6853d3880114c0b1d456ff00624436a5932a0bc796f9cc","e3bc23c326e9379389e1068ba2de77c7273d053824586215e9df8848540a6b88","ed44b3df86133af0c2c0edfc2142b907f56042bc0c73d9133f10f5595a71f7f6","ee784ca3dbc3a8364689dd6445df02c61fc2c1e099748d7fad943d36ead65fb4","f3228bebca0e9a07d7ca67b3e3e96288c53ce6aecb77bfab03ca98d6329c1fa4","f3b228e2a6bc919b9234c2ffa4ee9bbc5decf23ffca6849a958ef4372271c854","f6ba35f26a7529dbf800975c2b51465634f1dbd0d8c5585d50ed7d5b9c9af48d","fbd3f418a782cffb6bcd890fd3d2af1dd9776825756bc5ecff6c14a69d9d7643"],"recordQualifiers":{},"scopeLabel":"OMIM:612199","sourceIds":["OMIM:612199"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0015026/OMIM:617341","label":"Cerebroretinal microangiopathy with calcifications and cysts 2","mondoId":"MONDO:0015026","onsetQualifier":null,"recordKeys":["1f86681e7d4a596f11615add86e00880200bc9507ecc261824f15bc86f9a275b","262bc123566c743e505e8d936c25c7c478bbb1dba8ab811e6c366f03f400ee9f","2a0c057ee6b1e18060aeae93d41ab218faf69a379665b711f403a38b46489751","2b01233371e5934fd29552dc286391fdb08b8bad069d1dbd69d91c3b0777325e","5ac2c13634ed980664b655fea2dc5283fc271259c83990dab5782a270d2a5aa2","5c6bb7de70c5f6a30f86627b8b67ec84ea46b9ef547abaa7f257603f3579b99b","88169d00ddceecb63b63a7dc62b584e38e79a1933c57aeb60e7e7d698bbf2111","8f15142a07f2f51cab9e874e0a4f236cfca0d8dcb4715684826cfb5cd6b948b5","984db8fea74c4e043ff0c0d711987897df88754623d5475114cf7a8a93c39963","a8dad175d199bede64424f294c108252478820b06211b4ef3dc675024d40e158","ad5995f5a73a5c0b18c5f02e99ae057f43d84dbd972e54f97391b01f23effb09","c45b1a46a5509d5746e46f46c363bba6e5efec1764656fc3cd62bb0f59377870","ddad33f97ff0b8b29325448bbe287b14ece48e7f4c15bcddfe05a07ca7862c08","dfa5a7fad6b8631f139be775729dea4edc39af502c2e32f9da7faf576a88a3a9","ec54df5280746f26e1d3515f1233169917290cd67d5359b673a172a82bec2c00","fc8c26e0c3e2a2b56222fe15332de016e972e3d3e2c617b263205fb321444764"],"recordQualifiers":{},"scopeLabel":"OMIM:617341","sourceIds":["OMIM:617341"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0957264/OMIM:620368","label":"Cerebroretinal microangiopathy with calcifications and cysts 3","mondoId":"MONDO:0957264","onsetQualifier":null,"recordKeys":["0b4d059832af2c98ae3f6af5949fe69ecfed258aad2219d5765cc83a5e1dff78","1c3c7c9d0a1cf3858cb3f689935736a144e247f2827a8bbb732f91705bc4fe73","2ddfd4bc5812ddae03394a4906a65a59de61f589f3bef14d75e012bef5cf61f8","41aa8be77b0d0c5efe53bd11ea6bb712ce30526b17d681eafe54beae1f8b7267","58778ba1149ccc228ede15855e810596fa213fbcb5e32643d73655cf385f4f39","79f004bc58bcf3a3e18c23dfe7dbbf110712dfdaf693d92b408cfa6094de6c50","9c7decaa3933f9aee62d2f1caf1f50836057ac9c0ba721d3ad5cd0fc5a3c633e","ce5ca6d21dd009107735401525f8cec9b013e708fc32836e45c920dd8575cf9f","d58dced442fcc5cfed63bac2cc6496fe63423a47dc1513e99bd913b4cfe4b294","eb2b0675fc313ff6ca7ac108e6b11e3faf0fb39a3c9b9588ad342a8a5e2af88e"],"recordQualifiers":{},"scopeLabel":"OMIM:620368","sourceIds":["OMIM:620368"],"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:0024564/OMIM:612199","MONDO:0015026/OMIM:617341","MONDO:0957264/OMIM:620368"],"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":37,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":70,"sourceGroups":{"omim":33,"orphanet":0,"published":37}},"features":[{"hpoId":"HP:0007256","label":"Abnormal pyramidal sign","primary":false},{"hpoId":"HP:0002062","label":"Abnormal pyramidal tract morphology","primary":false},{"hpoId":"HP:0002071","label":"Abnormality of extrapyramidal motor function","primary":false},{"hpoId":"HP:0031545","label":"Abnormally low T cell receptor excision circle level","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0001903","label":"Anemia","primary":false},{"hpoId":"HP:0001251","label":"Ataxia (coordination difficulty)","primary":false},{"hpoId":"HP:0000618","label":"Blindness","primary":false},{"hpoId":"HP:0005528","label":"Bone marrow hypocellularity","primary":false},{"hpoId":"HP:0006487","label":"Bowing of the long bones","primary":false},{"hpoId":"HP:0002514","label":"Cerebral calcification","primary":false},{"hpoId":"HP:0010648","label":"Dermal translucency","primary":false},{"hpoId":"HP:0001260","label":"Dysarthria","primary":false},{"hpoId":"HP:0001332","label":"Dystonia","primary":false},{"hpoId":"HP:0002040","label":"Esophageal varix","primary":false},{"hpoId":"HP:0011968","label":"Feeding difficulties","primary":false},{"hpoId":"HP:0002213","label":"Fine hair","primary":false},{"hpoId":"HP:0002239","label":"Gastrointestinal hemorrhage","primary":false},{"hpoId":"HP:0002604","label":"Gastrointestinal telangiectasia","primary":false},{"hpoId":"HP:0002857","label":"Genu valgum","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0002301","label":"Hemiplegia","primary":false},{"hpoId":"HP:0001395","label":"Hepatic fibrosis","primary":false},{"hpoId":"HP:0002540","label":"Inability to walk","primary":false},{"hpoId":"HP:0002659","label":"Increased susceptibility to fractures","primary":false},{"hpoId":"HP:0002584","label":"Intestinal bleeding","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0002415","label":"Leukodystrophy","primary":false},{"hpoId":"HP:0002352","label":"Leukoencephalopathy","primary":false},{"hpoId":"HP:0001268","label":"Decline in thinking abilities","primary":false},{"hpoId":"HP:0004979","label":"Metaphyseal sclerosis","primary":false},{"hpoId":"HP:0033044","label":"Motor regression","primary":false},{"hpoId":"HP:0002164","label":"Nail dysplasia","primary":false},{"hpoId":"HP:0008404","label":"Nail dystrophy","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0002745","label":"Oral leukoplakia","primary":false},{"hpoId":"HP:0000938","label":"Osteopenia","primary":false},{"hpoId":"HP:0000939","label":"Osteoporosis","primary":false},{"hpoId":"HP:0001876","label":"Pancytopenia","primary":false},{"hpoId":"HP:0002756","label":"Pathologic fracture","primary":false},{"hpoId":"HP:0001409","label":"Portal hypertension","primary":false},{"hpoId":"HP:0008897","label":"Postnatal growth retardation","primary":false},{"hpoId":"HP:0002216","label":"Premature graying of hair","primary":false},{"hpoId":"HP:0002206","label":"Pulmonary fibrosis","primary":false},{"hpoId":"HP:0002757","label":"Recurrent fractures","primary":false},{"hpoId":"HP:0001147","label":"Retinal exudate","primary":false},{"hpoId":"HP:0007763","label":"Retinal telangiectasia","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0012231","label":"Serous retinal detachment","primary":false},{"hpoId":"HP:0100864","label":"Short femoral neck","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:0000963","label":"Thin skin","primary":false},{"hpoId":"HP:0001873","label":"Thrombocytopenia","primary":false},{"hpoId":"HP:0001337","label":"Tremor","primary":false},{"hpoId":"HP:0000020","label":"Urinary incontinence","primary":false}],"ledeHtml":"Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.","mondoId":"MONDO:0012815","records":[{"frequencyKind":"reported","key":"092a53258bce895982f3c4e9ffe5cc87669184cca4cd6e15033016339fc9659d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0012231","is_excluded":false,"label":"Serous retinal detachment","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"0ade641b6a6a99c17372f8bca3c9ff819c0185966745b94e2f99ebdb3707b43d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002164","is_excluded":false,"label":"Nail dysplasia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"0b4d059832af2c98ae3f6af5949fe69ecfed258aad2219d5765cc83a5e1dff78","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011968","is_excluded":false,"label":"Feeding difficulties","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"12ba63f8d763b95f510b10a9e370792e092eb0613f5d3a2c6caa0d311ac9ba75","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"15c84815a447f14995fe3100aea0de614540beff6326b686a1fd510be3707284","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002062","is_excluded":false,"label":"Abnormal pyramidal tract morphology","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"163678ce77a49ceeaf6b2e18da27412b496b1268d7452b8ec283258e24fad451","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"12/12","hpo_id":"HP:0002514","is_excluded":false,"label":"Cerebral calcification","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"18e9749e9fbc0f43b9d10fe6f4fde98331ce7cfcba481acd5ed060bbfb9fa2cf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"8/12","hpo_id":"HP:0002756","is_excluded":false,"label":"Pathologic fracture","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"19c00479222448547f27cd74b46018583421f9e1f6902a9e2e1aaa80a1c0f5ee","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001260","is_excluded":false,"label":"Dysarthria","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"19db55e9a7a3718d03857d77fb278b1642822663b229fc39d3d157576dac26a7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002071","is_excluded":false,"label":"Abnormality of extrapyramidal motor function","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1c3c7c9d0a1cf3858cb3f689935736a144e247f2827a8bbb732f91705bc4fe73","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001147","is_excluded":false,"label":"Retinal exudate","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1f3dc2c9feaece2a2e92323de840cf98640e03355500b21a6619bb27fa7b9a43","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002659","is_excluded":false,"label":"Increased susceptibility to fractures","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1f86681e7d4a596f11615add86e00880200bc9507ecc261824f15bc86f9a275b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"25105ef1348c6df64881bbb8e51b309158ab38de8d60d31e61cbb6361213568d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0006487","is_excluded":false,"label":"Bowing of the long bones","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"262bc123566c743e505e8d936c25c7c478bbb1dba8ab811e6c366f03f400ee9f","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0005528","is_excluded":false,"label":"Bone marrow hypocellularity","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"270b388f7ca52647ec7d047e61c230f7cafc098a7a2ccf003a6b025fb8df852b","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000963","is_excluded":false,"label":"Thin skin","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"2a0c057ee6b1e18060aeae93d41ab218faf69a379665b711f403a38b46489751","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2b01233371e5934fd29552dc286391fdb08b8bad069d1dbd69d91c3b0777325e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2ddfd4bc5812ddae03394a4906a65a59de61f589f3bef14d75e012bef5cf61f8","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000020","is_excluded":false,"label":"Urinary incontinence","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"31e6dba42dc57ca05c2313b21e91b5e7403c9c912d7b3594600c128bb99c1bc4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"363c6a39373b9489968359fee1b25ab1a030637f1acec278896ff4026c991489","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000939","is_excluded":false,"label":"Osteoporosis","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"41aa8be77b0d0c5efe53bd11ea6bb712ce30526b17d681eafe54beae1f8b7267","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002514","is_excluded":false,"label":"Cerebral calcification","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4449fffec6f9d17029fa41b382c41e3207e10f6589ed9a4d1d692f40053ac1f6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001332","is_excluded":false,"label":"Dystonia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"56f143876d30b22559977342495dcf8e73100ab31e975e539c22c37617abf5ef","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001337","is_excluded":false,"label":"Tremor","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"58778ba1149ccc228ede15855e810596fa213fbcb5e32643d73655cf385f4f39","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002757","is_excluded":false,"label":"Recurrent fractures","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5ac2c13634ed980664b655fea2dc5283fc271259c83990dab5782a270d2a5aa2","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0000938","is_excluded":false,"label":"Osteopenia","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5ae62c4697989f739b2278329007b6a0e48463487eff53d5f7f0049ca5ac5d60","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001873","is_excluded":false,"label":"Thrombocytopenia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"5bdbb02b2631f90e9a162b072e30665747f39630cdec5848803d1c216a66a999","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5c6bb7de70c5f6a30f86627b8b67ec84ea46b9ef547abaa7f257603f3579b99b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0033044","is_excluded":false,"label":"Motor regression","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"5d84d2c7b8ae3578859f39978ea386bc1494d5bbaa4b45d085583351dd5d8e54","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007763","is_excluded":false,"label":"Retinal telangiectasia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"63de064d1b0adf9ce4e2687a11e6c92a26d28911702589f21fe492654addf3df","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"3/12","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"67d7b6ee61aab131e15b4b758d52af933dc4789e7fd376c4c93421f456da134a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002301","is_excluded":false,"label":"Hemiplegia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"681879f2c042304c782a6e62c44812f37c33696fc24cf3d50423a5a89abd6072","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002584","is_excluded":false,"label":"Intestinal bleeding","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"70c7a2b90d118513605ee508ec37a7e1588ba43ec05cebd5125b68dfdac9aa2d","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008070","is_excluded":false,"label":"Sparse hair","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7494024fc1cfe665d3c552d6b7414efbd82daa4087c2f9daabe02cb77980e8d8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000938","is_excluded":false,"label":"Osteopenia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7933f5041f53532b6b36b53dbcfa1c12cfac1c541262223117a167895114f3aa","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005528","is_excluded":false,"label":"Bone marrow hypocellularity","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"79f004bc58bcf3a3e18c23dfe7dbbf110712dfdaf693d92b408cfa6094de6c50","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7b64728cc4562197958cfdf427dbb9ee2d7afb9ff69a46a839086a178f1fa550","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002745","is_excluded":false,"label":"Oral leukoplakia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"7bd38d6728a494ecd23ea95ef8dfc0af0acbf8f5f170b9fa7a7457966052c6b0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002415","is_excluded":false,"label":"Leukodystrophy","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8469837b35ef664c07692a6edb748ef7372cb7584c0efd948e97f93a2f594af5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001257","is_excluded":false,"label":"Spasticity","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8734ba92c9b6726ad1e416582f671685d5045e0143812fa4308bbc0509c31c9f","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"2/13","hpo_id":"HP:0002213","is_excluded":false,"label":"Fine hair","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"88169d00ddceecb63b63a7dc62b584e38e79a1933c57aeb60e7e7d698bbf2111","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0007763","is_excluded":false,"label":"Retinal telangiectasia","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8cd7f7c2835cab101fc318164287c7db32da4a6502b00139a38506ffd6726fbf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0100864","is_excluded":false,"label":"Short femoral neck","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"8f15142a07f2f51cab9e874e0a4f236cfca0d8dcb4715684826cfb5cd6b948b5","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002239","is_excluded":false,"label":"Gastrointestinal hemorrhage","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"984db8fea74c4e043ff0c0d711987897df88754623d5475114cf7a8a93c39963","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001409","is_excluded":false,"label":"Portal hypertension","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9c7decaa3933f9aee62d2f1caf1f50836057ac9c0ba721d3ad5cd0fc5a3c633e","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002239","is_excluded":false,"label":"Gastrointestinal hemorrhage","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9eba2167a647f08130fc18f6ffa78f024de73b53bdf5a25ec33d2c45a43f31f2","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008897","is_excluded":false,"label":"Postnatal growth retardation","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"a33a38e6ef7350d9c4501959e9c489429da109aef66a99eee515d74aae0d4a1f","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"11/12","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a8dad175d199bede64424f294c108252478820b06211b4ef3dc675024d40e158","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0031545","is_excluded":false,"label":"Abnormally low T cell receptor excision circle level","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ad5995f5a73a5c0b18c5f02e99ae057f43d84dbd972e54f97391b01f23effb09","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b1eb6cd4ba4ab27d2255d8a6e21e15d9c997f3ac2efc08d282bd13e5c1e58b75","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"5/13","hpo_id":"HP:0008404","is_excluded":false,"label":"Nail dystrophy","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c4371733d70d2f2ce7dc410f79d9cef4cdc8e8e15e61050d37a2ab5b89c2a72b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"12/12","hpo_id":"HP:0002352","is_excluded":false,"label":"Leukoencephalopathy","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c45b1a46a5509d5746e46f46c363bba6e5efec1764656fc3cd62bb0f59377870","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001395","is_excluded":false,"label":"Hepatic fibrosis","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c65d101f19688694d555a76bf38053be5672cd8879237bb21f2ba92ca14649e5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001268","is_excluded":false,"label":"Mental deterioration","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ca50bb3b88097f5c816d448f285867f2c9a46d3d89fce2bba333534f59788973","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"1/13","hpo_id":"HP:0002206","is_excluded":false,"label":"Pulmonary fibrosis","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ce5ca6d21dd009107735401525f8cec9b013e708fc32836e45c920dd8575cf9f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002540","is_excluded":false,"label":"Inability to walk","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d58dced442fcc5cfed63bac2cc6496fe63423a47dc1513e99bd913b4cfe4b294","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002352","is_excluded":false,"label":"Leukoencephalopathy","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dc87ab4f0caba766337c71449796f480e4bbd3678497e344c714d786d58e2197","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"5/13","hpo_id":"HP:0001903","is_excluded":false,"label":"Anemia","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ddad33f97ff0b8b29325448bbe287b14ece48e7f4c15bcddfe05a07ca7862c08","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002040","is_excluded":false,"label":"Esophageal varix","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"dfa5a7fad6b8631f139be775729dea4edc39af502c2e32f9da7faf576a88a3a9","raw":{"aspect":"P","body_system":"blood","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001876","is_excluded":false,"label":"Pancytopenia","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e276ab0bfc9558f7ee6853d3880114c0b1d456ff00624436a5932a0bc796f9cc","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"e3bc23c326e9379389e1068ba2de77c7273d053824586215e9df8848540a6b88","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"eb2b0675fc313ff6ca7ac108e6b11e3faf0fb39a3c9b9588ad342a8a5e2af88e","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:620368","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 3","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"PMID:27013236","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ec54df5280746f26e1d3515f1233169917290cd67d5359b673a172a82bec2c00","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ed44b3df86133af0c2c0edfc2142b907f56042bc0c73d9133f10f5595a71f7f6","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"2/13","hpo_id":"HP:0010648","is_excluded":false,"label":"Dermal translucency","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"ee784ca3dbc3a8364689dd6445df02c61fc2c1e099748d7fad943d36ead65fb4","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0004979","is_excluded":false,"label":"Metaphyseal sclerosis","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f3228bebca0e9a07d7ca67b3e3e96288c53ce6aecb77bfab03ca98d6329c1fa4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"PCS","frequency_raw":"6/13","hpo_id":"HP:0002604","is_excluded":false,"label":"Gastrointestinal telangiectasia","onset_id":null,"reference":"PMID:22267198","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f3b228e2a6bc919b9234c2ffa4ee9bbc5decf23ffca6849a958ef4372271c854","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001251","is_excluded":false,"label":"Ataxia","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f6ba35f26a7529dbf800975c2b51465634f1dbd0d8c5585d50ed7d5b9c9af48d","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002857","is_excluded":false,"label":"Genu valgum","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fbd3f418a782cffb6bcd890fd3d2af1dd9776825756bc5ecff6c14a69d9d7643","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:612199","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007256","is_excluded":false,"label":"Abnormal pyramidal sign","onset_id":null,"reference":"OMIM:612199","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fc8c26e0c3e2a2b56222fe15332de016e972e3d3e2c617b263205fb321444764","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:617341","disease_name":"Cerebroretinal microangiopathy with calcifications and cysts 2","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0002216","is_excluded":false,"label":"Premature graying of hair","onset_id":null,"reference":"PMID:27432940","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/coats-plus-syndrome\">Coats plus syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Coats plus syndrome results from mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis). The CTC1 protein works as part of a group of proteins known as the CST complex, which is involved in the copying (replication) of telomeres. The CST complex helps prevent telomeres from being degraded in some cells as the cells divide.</p><p>Mutations in the CTC1 gene impair the function of the CST complex, which affects the replication of telomeres. However, it is unclear how CTC1 gene mutations impact telomere structure and function. Some studies have found that people with CTC1 gene mutations have abnormally short telomeres, while other studies have found no change in telomere length. Researchers are working to determine how telomeres are different in people with CTC1 gene mutations and how these changes could underlie the varied signs and symptoms of Coats plus syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/coats-plus-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Coats plus syndrome?"},{"bodyHtml":"<p>Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder causes blood vessels in the retina to be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, which can eventually cause the layers of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss.</p><p>People with Coats plus syndrome also have brain abnormalities including abnormal deposits of calcium (calcification), the development of fluid-filled pockets called cysts, and loss of a type of brain tissue known as white matter (leukodystrophy). These brain abnormalities worsen over time, causing slow growth, movement disorders, seizures, and a decline in intellectual function.</p><p>Other features of Coats plus syndrome include low bone density (osteopenia), which causes bones to be fragile and break easily, and a shortage of red blood cells (anemia), which can lead to unusually pale skin (pallor) and extreme tiredness (fatigue). Affected individuals can also have serious or life-threatening complications including abnormal bleeding in the gastrointestinal tract, high blood pressure in the vein that supplies blood to the liver (portal hypertension), and liver failure. Less common features of Coats plus syndrome can include sparse, prematurely gray hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called café-au-lait spots.</p><p>Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been grouped together under the umbrella term cerebroretinal microangiopathy with calcifications and cysts (CRMCC) because they feature very similar brain abnormalities. However, researchers recently found that Coats plus syndrome and LCC have different genetic causes, and they are now generally described as separate disorders instead of variants of a single condition.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/coats-plus-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"coats-plus-syndrome","sourceDocuments":[{"name":"Coats plus syndrome","reviewed":"2014-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:24.319888+00:00","label":"Causes","pageSha256":"dc05666ea0a90104404f0a64f9da50455d05630bc60f02c1d838ad02f93a7bf9","sourceUrl":"https://medlineplus.gov/genetics/condition/coats-plus-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/coats-plus-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":"Coats plus syndrome"},"schemaVersion":1}