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":46,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":205,"sourceGroups":{"omim":6,"orphanet":99,"other":1,"published":99}},"features":[{"hpoId":"HP:0000878","label":"11 pairs of ribs","primary":false},{"hpoId":"HP:0006897","label":"Abducens palsy","primary":false},{"hpoId":"HP:0008066","label":"Abnormal blistering of the skin","primary":false},{"hpoId":"HP:0001671","label":"Abnormal cardiac septum morphology","primary":false},{"hpoId":"HP:0030680","label":"Abnormal cardiovascular system morphology","primary":false},{"hpoId":"HP:0000811","label":"Abnormal external genitalia morphology","primary":false},{"hpoId":"HP:0000534","label":"Abnormal eyebrow morphology","primary":false},{"hpoId":"HP:0000055","label":"Abnormal female external genitalia morphology","primary":false},{"hpoId":"HP:0001654","label":"Abnormal heart valve morphology","primary":false},{"hpoId":"HP:0002242","label":"Abnormal intestine morphology","primary":false},{"hpoId":"HP:0002101","label":"Abnormal lung lobation","primary":false},{"hpoId":"HP:0002167","label":"Abnormal speech pattern","primary":false},{"hpoId":"HP:0004378","label":"Abnormality of the anus","primary":false},{"hpoId":"HP:0009553","label":"Abnormality of the hairline","primary":false},{"hpoId":"HP:0002715","label":"Abnormality of the immune system","primary":false},{"hpoId":"HP:0000077","label":"Abnormality of the kidney","primary":false},{"hpoId":"HP:0001392","label":"Abnormality of the liver","primary":false},{"hpoId":"HP:0000464","label":"Abnormality of the neck","primary":false},{"hpoId":"HP:0001743","label":"Abnormality of the spleen","primary":false},{"hpoId":"HP:0000504","label":"Abnormality of vision","primary":false},{"hpoId":"HP:0001344","label":"Absent speech","primary":false},{"hpoId":"HP:0001274","label":"Agenesis of corpus callosum","primary":false},{"hpoId":"HP:0000718","label":"Aggressive behavior","primary":false},{"hpoId":"HP:0001734","label":"Annular pancreas","primary":false},{"hpoId":"HP:0005113","label":"Aortic arch aneurysm","primary":false},{"hpoId":"HP:0002616","label":"Aortic root aneurysm","primary":false},{"hpoId":"HP:0010722","label":"Asymmetry of the ears","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0000717","label":"Autism","primary":false},{"hpoId":"HP:0001647","label":"Bicuspid aortic valve","primary":false},{"hpoId":"HP:0000892","label":"Bifid ribs","primary":false},{"hpoId":"HP:0000193","label":"Bifid uvula","primary":false},{"hpoId":"HP:0000581","label":"Blepharophimosis","primary":false},{"hpoId":"HP:0000248","label":"Brachycephaly","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0012385","label":"Camptodactyly","primary":false},{"hpoId":"HP:0100490","label":"Camptodactyly of finger","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0002120","label":"Cerebral cortical atrophy","primary":false},{"hpoId":"HP:0000204","label":"Cleft upper lip","primary":false},{"hpoId":"HP:0004209","label":"Clinodactyly of the 5th finger","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:0000851","label":"Congenital hypothyroidism","primary":false},{"hpoId":"HP:0002019","label":"Constipation","primary":false},{"hpoId":"HP:0006824","label":"Cranial nerve paralysis","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0000490","label":"Deeply set eye","primary":false},{"hpoId":"HP:0001476","label":"Delayed closure of the anterior fontanelle","primary":false},{"hpoId":"HP:0002188","label":"Delayed CNS myelination","primary":false},{"hpoId":"HP:0000270","label":"Delayed cranial suture closure","primary":false},{"hpoId":"HP:0002750","label":"Delayed skeletal maturation","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0000457","label":"Depressed nasal ridge","primary":false},{"hpoId":"HP:0001644","label":"Dilated cardiomyopathy","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0010316","label":"Ebstein anomaly of the tricuspid valve","primary":false},{"hpoId":"HP:0000086","label":"Ectopic kidney","primary":false},{"hpoId":"HP:0002353","label":"EEG abnormality","primary":false},{"hpoId":"HP:0000286","label":"Epicanthus","primary":false},{"hpoId":"HP:0011097","label":"Epileptic spasm","primary":false},{"hpoId":"HP:0001508","label":"Failure to thrive","primary":false},{"hpoId":"HP:0008872","label":"Feeding difficulties in infancy","primary":false},{"hpoId":"HP:0001829","label":"Foot polydactyly","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0002020","label":"Gastroesophageal reflux","primary":false},{"hpoId":"HP:0002230","label":"Generalized hirsutism","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0004374","label":"Hemiplegia/hemiparesis","primary":false},{"hpoId":"HP:0001397","label":"Hepatic steatosis","primary":false},{"hpoId":"HP:0008499","label":"High hypermetropia","primary":false},{"hpoId":"HP:0000218","label":"High palate","primary":false},{"hpoId":"HP:0001385","label":"Hip dysplasia","primary":false},{"hpoId":"HP:0011228","label":"Horizontal eyebrow","primary":false},{"hpoId":"HP:0000238","label":"Hydrocephalus","primary":false},{"hpoId":"HP:0000126","label":"Hydronephrosis","primary":false},{"hpoId":"HP:0000540","label":"Hypermetropia","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0000135","label":"Hypogonadism","primary":false},{"hpoId":"HP:0008736","label":"Hypoplasia of penis","primary":false},{"hpoId":"HP:0002079","label":"Hypoplasia of the corpus callosum","primary":false},{"hpoId":"HP:0000047","label":"Hypospadias","primary":false},{"hpoId":"HP:0000821","label":"Hypothyroidism","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002521","label":"Hypsarrhythmia","primary":false},{"hpoId":"HP:0012469","label":"Infantile spasms","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001387","label":"Joint stiffness","primary":false},{"hpoId":"HP:0002808","label":"Kyphosis","primary":false},{"hpoId":"HP:0006956","label":"Lateral ventricle dilatation","primary":false},{"hpoId":"HP:0002352","label":"Leukoencephalopathy","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0000369","label":"Low-set ears","primary":false},{"hpoId":"HP:0100559","label":"Lower limb asymmetry","primary":false},{"hpoId":"HP:0012733","label":"Macule","primary":false},{"hpoId":"HP:0000272","label":"Malar flattening","primary":false},{"hpoId":"HP:0001840","label":"Metatarsus adductus","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0008551","label":"Microtia","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","primary":false},{"hpoId":"HP:0000733","label":"Motor stereotypy","primary":false},{"hpoId":"HP:0003198","label":"Myopathy","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0000160","label":"Narrow mouth","primary":false},{"hpoId":"HP:0001319","label":"Neonatal hypotonia","primary":false},{"hpoId":"HP:0003006","label":"Neuroblastoma","primary":false},{"hpoId":"HP:0012817","label":"Noncompaction cardiomyopathy","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0001513","label":"Obesity","primary":false},{"hpoId":"HP:0001107","label":"Ocular albinism","primary":false},{"hpoId":"HP:0010865","label":"Oppositional defiant disorder","primary":false},{"hpoId":"HP:0000648","label":"Optic atrophy","primary":false},{"hpoId":"HP:0000588","label":"Optic disc coloboma","primary":false},{"hpoId":"HP:0000543","label":"Optic disc pallor","primary":false},{"hpoId":"HP:0000202","label":"Orofacial cleft","primary":false},{"hpoId":"HP:0001302","label":"Pachygyria","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0001655","label":"Patent foramen ovale","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0000307","label":"Pointed chin","primary":false},{"hpoId":"HP:0002126","label":"Polymicrogyria","primary":false},{"hpoId":"HP:0002591","label":"Polyphagia","primary":false},{"hpoId":"HP:0002465","label":"Poor speech","primary":false},{"hpoId":"HP:0000358","label":"Posteriorly rotated ears","primary":false},{"hpoId":"HP:0011220","label":"Prominent forehead","primary":false},{"hpoId":"HP:0002021","label":"Pyloric stenosis","primary":false},{"hpoId":"HP:0012760","label":"Reduced social responsiveness","primary":false},{"hpoId":"HP:0000107","label":"Renal cyst","primary":false},{"hpoId":"HP:0000902","label":"Rib fusion","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0100716","label":"Self-injurious behavior","primary":false},{"hpoId":"HP:0000742","label":"Self-mutilation","primary":false},{"hpoId":"HP:0000407","label":"Sensorineural hearing loss","primary":false},{"hpoId":"HP:0009237","label":"Short 5th finger","primary":false},{"hpoId":"HP:0001773","label":"Short foot","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0003416","label":"Spinal canal stenosis","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000176","label":"Submucous cleft hard palate","primary":false},{"hpoId":"HP:0000664","label":"Synophrys","primary":false},{"hpoId":"HP:0001009","label":"Telangiectasia","primary":false},{"hpoId":"HP:0001636","label":"Tetralogy of Fallot","primary":false},{"hpoId":"HP:0000391","label":"Thickened helices","primary":false},{"hpoId":"HP:0000582","label":"Upslanted palpebral fissure","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0002119","label":"Ventriculomegaly","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0000260","label":"Wide anterior fontanel","primary":false},{"hpoId":"HP:0000431","label":"Wide nasal bridge","primary":false}],"ledeHtml":"1p36 deletion syndrome is a disorder that typically causes intellectual disabilities. Most affected individuals do not speak or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and difficulty swallowing (dysphagia).","mondoId":"MONDO:0011929","records":[{"frequencyKind":"range","key":"00a028739dd338423c115a849d2e2d341c016ec0409ea25b8e34f2aaa3da5727","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"019ae935f2e15a83faedf4d7607c2e5e158b81f52e9ff794cc13867ec2f625b1","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000307","is_excluded":false,"label":"Pointed chin","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0269f4dee06c6fa013621d64428c15d7d5e3e7b569c734575950b38a7da41d30","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"04a7713dc44023142d2844f849831688743c465931aa285bde27d0f6221d7878","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0586ba2bc276e5604050d7df0897e54540eb471193927878a36376f432b4a8c3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000126","is_excluded":false,"label":"Hydronephrosis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"06632fcafd6abab9fb619839be2019006e0bc1880c78530170fe0cc324f89ab4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"9/62","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"PMID:18245432;PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"066ffb36d3306cd4e28870f5d32235cfe893f2fe21c2c232a2dc8a2609f349ff","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000717","is_excluded":false,"label":"Autism","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0709c870bddd275524b3ac30ea527e94cb08fa42ffc35375191d770c475bc619","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000504","is_excluded":false,"label":"Abnormality of vision","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0b401d50f10887dc1aa877a667598ddf1bc2f4e0b6af7a5bf512bf5a9d4bd3a4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0b84118e1a2f86c07fc6e5abe9a5f0dc5a3a1dce7e6761c6b593004afcd95107","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"6/30","hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0b8c4c40da1495df37fc63c8fc4007e3baa931e9cfa9962dfef6e91c5f0ddf37","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"5/30","hpo_id":"HP:0000202","is_excluded":false,"label":"Orofacial cleft","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0c07e9e0685dade35ed1491019e5a3c9813d59ee3d4a5c5477d3d98f03920745","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0f67589a6d9a217e4e3ee81b745c43700dd0c9e041c5063dc7f4833ce44de3f8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0f69d6ed226e8ecbe81d3eb6c7b7d54af7acb4efa59b96bd52dfc26d800790b3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002521","is_excluded":false,"label":"Hypsarrhythmia","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1145aed346cfbfaf6aec0e883d49ecb48d72f0d14e5961321beeed7864975b76","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0004378","is_excluded":false,"label":"Abnormality of the anus","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"15ee6b3f073972b785afe1ec2698eaaa9735ca75ef2ba123ab540ef400bd1875","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000272","is_excluded":false,"label":"Malar flattening","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"19eff87b4b6cd0e05c516fdddd9dde5e3ff16158c83e30b1f3e0900e9c876047","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1af41a7bb90e6445fb5be9a6ab0f9ff3e5633b10291faeeddb01f392b63b8630","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0009553","is_excluded":false,"label":"Abnormality of the hairline","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1b75cd38c4503fd3b2cafa17a77a719083e2f7fe5814bce7088f7866742d91c4","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1c215ff710b95b21fef08c592b14e8220f5d8d2c949e729a6510aa0e5ccc413a","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"2/30","hpo_id":"HP:0001647","is_excluded":false,"label":"Bicuspid aortic valve","onset_id":null,"reference":"PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1f919835e74706136bc3e9fa1863ec14f8f66566a9e0fb1dd25af10c625cddce","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002126","is_excluded":false,"label":"Polymicrogyria","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"204972c194c7b48efd1187a5633e87fdfe8c067c99aeb192a3e2e4d3569cd3e0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"5/30","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"20aa3482f982a3b1193b1174ada31d664a447aa78bc8b7e82750bb5304c2256b","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0008499","is_excluded":false,"label":"High hypermetropia","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"236d199fe94f81f75f6fb772a0baea0b9bd8e07c3dd0c8fe0115f641f4935770","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"273ae6c47cf50eccc5e949804f1913ae6d64c0feca69640e339874b108ec7092","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008736","is_excluded":false,"label":"Hypoplasia of penis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2822d28a09085614ba499ab6c1f1306f2e014f28fd44d1bf8d367f97bcffe409","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0012760","is_excluded":false,"label":"Reduced social responsiveness","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"28e8a7e749781cea36eaf860565d1259b8c458ce0a0a2d548cc14d1711781236","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000811","is_excluded":false,"label":"Abnormal external genitalia morphology","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2b280c44d33ad557370de9e295be199143a95df776933c754001e4795f3bb96e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"52/86","hpo_id":"HP:0000260","is_excluded":false,"label":"Wide anterior fontanel","onset_id":null,"reference":"PMID:18245432;PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2b5711cf54469c80b2ac7a4679ed4bbbbe42b5046136f7d7edea0fbda4103680","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2c4178827ba397490f58a9c7cd7c3a90644db7799b0ab2d78f9af38ea029650d","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2c6d87a8598b75be370e7dace3c7a8dc3df8e1b356b3f93d94ca67b24542dcd5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2deacf5153d00f0d9e959296712d799730225e233fa17176e37a121d4b6a8bec","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2df1ce46e6c132bf7b059188abfd39a27322a3fe0da18033c51a8329b707035e","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001107","is_excluded":false,"label":"Ocular albinism","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2ead4a53dedf8457a90f04bb161fb356615d20f994f72e1dccf612c93ae5d07c","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002242","is_excluded":false,"label":"Abnormal intestine morphology","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"309f7f578cb89568a0fd088dfd8c3ae442cf305733cbf514588060e9499cd150","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"32d2b1e0bf1638f52628838d22e30d96df1a03b8e4df818e29dc3a9aa9effc35","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:18245432;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"337f93d38e3ec113103c4301b6011df4e30f4d72982c9460dd215cb2540e7234","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"OMIM:607872","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"33b25df3b6056fb73eee65bcdae81c83a47c30592fcb284793c083f986401225","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"34288cc6fef9a3d97554d005ffcd80a7145e51c7bc97338bb0ba7aa7961452f5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"7/30","hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":"HP:0003593","reference":"PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"345bfe1544b05598c6c53ee705fe913c4c359d5eadad67a7758197f12e7e1de7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"58/70","hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3725497b38594413d5a021bc2c0ac6a06b52d278e223f41cbdf1ded2476fd8d6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001344","is_excluded":false,"label":"Absent speech","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"372eb73d8c0e63e2aef68ddf43ee988b2410e74747483d42e5bc1bed471e7058","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000218","is_excluded":false,"label":"High palate","onset_id":null,"reference":"OMIM:607872","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"373b48303ea5421626a7be495b6647191cd73c65e5184e2bd0ab0ef18f9e35ce","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"27/90","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"PMID:18245432;PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"37c9f6595829f09d3c3150ec9944487b0cc10e7c5b5d5cf781ed4402d2fe069e","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030680","is_excluded":false,"label":"Abnormal cardiovascular system morphology","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"38eec47a35ee5402cb4edb4a765c7ed6678b8225522d4f5e7f848d3f10ce4bf7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"38f7c14fafde4b9d4b4df0fe8d1655376db087df961d8d8b4a608115a2d08997","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002353","is_excluded":false,"label":"EEG abnormality","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3b0e10edacecdbe24e48514c839b5c272152c6cb8da71667fb13577f232f72e8","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"30/44","hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"PMID:18245432;PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3b113a66b840b4ff41b084a32ca557294765164c7ea7649fa8a13dda18f3231c","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000077","is_excluded":false,"label":"Abnormality of the kidney","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3bff79d1549ca6a64c6f9f5149f44ba906c270b0c8ad5cc479d7c258ebb21298","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"57/90","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:18245432;PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"3d0dc9d7f187048bf653965c26cd43b44072de0a7688255c1b154dcf258ff9e4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0006956","is_excluded":false,"label":"Lateral ventricle dilatation","onset_id":null,"reference":"PMID:18245432;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3d7fea08529bebf248fee98e1405bbae28bb70584dc0af88b55792c98af4271f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003198","is_excluded":false,"label":"Myopathy","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3eea2b83b3b065a46ddcc1d1ac487e51231eab530f72431a9be50ee9f538eac3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002808","is_excluded":false,"label":"Kyphosis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3fdf8fd77490238a0febf20793ec06bf74e348dd45b4014e0bbb0401a9bbe6ec","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004378","is_excluded":false,"label":"Abnormality of the anus","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"44eb38286a099c4726f374985ac010a0b98a3cbd6b2ebdf05ecdb778aa455548","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002230","is_excluded":false,"label":"Generalized hirsutism","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"485858a50459bac5aab3f8327bc65e3e8f3000a25ef9f98ac58c0a625763b156","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000135","is_excluded":false,"label":"Hypogonadism","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4896d3852815cbba3989a88178c8f36ebe9bdbd392eeb4a6236a67f31ded275b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004374","is_excluded":false,"label":"Hemiplegia/hemiparesis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4985b5e686e330984662aa732b7ddd42fb72332120f0869bd5fbd6a7ae39d220","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"49bba66dc5ae36a2ce8a5be352a080e1573faa903cbbf3fb6e342d55e6de51fd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000892","is_excluded":false,"label":"Bifid ribs","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4a569839ca75dbe476eba0bc61e0f691b7b755f714568edb9e5db67aafd49a7e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4fffc307cff30862f07264ad5ae9554a02a29c57c1b2b208b606d005873bd4c1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002101","is_excluded":false,"label":"Abnormal lung lobation","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5118399d580285b6a80c5a14ed34e7548da6cc1421ddbebd83cb372e25894b11","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001671","is_excluded":false,"label":"Abnormal cardiac septum morphology","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"511c268bde7d89084596658055002eb3bfd73679c83428b4fc34a6b1daee166c","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000664","is_excluded":false,"label":"Synophrys","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"54899df91888844039961dadc3b43971d435960fe7d983c6d6eed82d445e3495","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002352","is_excluded":false,"label":"Leukoencephalopathy","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"58d32afddcd8f48a7b864081d94f614feb3d846026dfe925834629a6cd2188ed","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"591ec69791f35e1897095c2438a2d3d14718397f63ec4d080433a7ec177fd30b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002188","is_excluded":false,"label":"Delayed CNS myelination","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5baf8597acef5dc24f83d9853897807a71e3c8eec0f9ab96461cbc9618d594d2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001009","is_excluded":false,"label":"Telangiectasia","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5e0c9eb6084a057a9e1a04ec4e444f6f78cf863456f73430819e249ae6f25857","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000718","is_excluded":false,"label":"Aggressive behavior","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5e1953aa9b04a6e354572a1110b1be9570a0bcd2aeef9dd3627119ae4bbadd60","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001636","is_excluded":false,"label":"Tetralogy of Fallot","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5e9b1cb093b74ffd0d05cdc13b8dab1cf35db62ec8c6af468e360c23503aef21","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000733","is_excluded":false,"label":"Motor stereotypy","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"616aeb34bd0e7d85e584541c7a4b4645b25d44595cdf6131a779fd5701aae45c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"61a1d970af027e5a299bb8a1c452c90195c01af105a9716ca0894c9637cc12d4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002591","is_excluded":false,"label":"Polyphagia","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"62406f46ec78c6abe3b1fed0600d0cc7ecd9c51a96392f478e55bae607fa2a34","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"60/60","hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"64fd4d425bb2246df829555c327dade88c027d4d1c7187a38a7c7fe097b32749","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001743","is_excluded":false,"label":"Abnormality of the spleen","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"65d0e249bb074d568c9729b9e762387ba9314f6a48c0b622a75f708406004df9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002120","is_excluded":false,"label":"Cerebral cortical atrophy","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"65d651badc3b525e1b1e4f9ece23a6292195e9cae4f80fc80b79c63a870a2011","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6688fc6f2bef0f529ae5ce236dc72fc0a3b99fab2671a426736b19a4711b9845","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001387","is_excluded":false,"label":"Joint stiffness","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"67a1b65056170ea086afa587d3c9b57133dcf7ad4e881411c41766c0b8441821","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000055","is_excluded":false,"label":"Abnormal female external genitalia morphology","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"67f4efe75e6ee8f329b40a8990ea7dc5ce2b8786ac2b834b6c687e3f49bda512","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":"HP:0003593","reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"681d04981673a11266f43f1fdaee8c0969d9020ef6a51eb35197ea14f059c411","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"57/90","hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"PMID:18245432;PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6899f3e807f26df6f03241717aad594f1a75ac1532a7ef92df1fedd621c99c92","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001654","is_excluded":false,"label":"Abnormal heart valve morphology","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6b4db6a3fb5f56af2499a38d02e08278a52520a274058ac7bebc9107af535dfa","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6ba305fbd440143565ce2c28c7a188b4ad23e1fa258a252730564b943d0032fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003416","is_excluded":false,"label":"Spinal canal stenosis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6c547483ba7ba5c3bba007093206550d024ceb4be969ca6f48c8ba99ce8996ec","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000107","is_excluded":false,"label":"Renal cyst","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6f09630d1c3fdc4eb44f991bc293f9932c609e9fffca083de9325cdedc852fc3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001385","is_excluded":false,"label":"Hip dysplasia","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"70fc91605019f953b5c7b7145524282e8d407b5ca20ecdf27aaa0aa45f2741e9","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"60/60","hpo_id":"HP:0000431","is_excluded":false,"label":"Wide nasal bridge","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"716ac239ca81e90261c378ba54fa47f297171bf4946f4a55f12da442bc276ea0","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002750","is_excluded":false,"label":"Delayed skeletal maturation","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"71ba8643db1c01a183caa1009f59e6e73201d0e4afaec0e07a4b300aa756e627","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000534","is_excluded":false,"label":"Abnormal eyebrow morphology","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7220f7af0a08d8044d95dbb17f56d0cfbab6c14098ed7732df53696634bd2a59","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001302","is_excluded":false,"label":"Pachygyria","onset_id":null,"reference":"OMIM:607872","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"754eba34f7bfd18917efbc68b7518529707e0def27681d63b33323b7e9493b5b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000176","is_excluded":false,"label":"Submucous cleft hard palate","onset_id":null,"reference":"PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"756da5c27c21f0618f7e617c7cffafea16be7883a78becae9296e4761aca81fa","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011228","is_excluded":false,"label":"Horizontal eyebrow","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"762fb75b4b8d28d49e12067e7697e51bea97f1d9304a2a0a43bc31ed95e33758","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7747cbac680b47bc0d6e0e43fc30fdf791b527be661847f01e3cf39320b1d6db","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"16/30","hpo_id":"HP:0000391","is_excluded":false,"label":"Thickened helices","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7809245cc166ad41a2c27765f8f2b998d7dc1808b26ee1b101a45fa5916d42dc","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"23/30","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"784d4c20ff88e1e122104c1b01fc7bd52521aa7cb699312a36a23715808f16e1","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003006","is_excluded":false,"label":"Neuroblastoma","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7999ea3f7291a274803e1b941910a5e572d78a609c3e626d191b596e15f0ec85","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7be20dae27f8ad4c8e058520a121443929a902d5ffdc23a1cdc5cbe54bcb9b21","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"20/30","hpo_id":"HP:0000457","is_excluded":false,"label":"Depressed nasal ridge","onset_id":null,"reference":"PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7c82efd5788110ebe11f82a8f63d75abe83924f49baa49d844f3f7acd5d1afc9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000892","is_excluded":false,"label":"Bifid ribs","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7fe2e26a9e795dd2cff08a571b828fd4ab943d0ba1e994bada444876342ccb35","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"2/34","hpo_id":"HP:0001636","is_excluded":false,"label":"Tetralogy of Fallot","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"7ffccb6cd7fe0a65f570c74ae34e51f9ec52e598f07699f3867d1c00c168e0ad","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001385","is_excluded":false,"label":"Hip dysplasia","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"83fa4eb7e425c15973126b66f1ecb8b40480d7a7c2a4025cd41639966b66dbaf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8402d608002794967bd92379f64dc09bf312c066632162a6c2f49adeafe2dc27","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000851","is_excluded":false,"label":"Congenital hypothyroidism","onset_id":null,"reference":"PMID:18245432;PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8742fd7da87562e996ec512090d1ccf7e667dc0c76daeeea4f64dc99eee8623a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0010865","is_excluded":false,"label":"Oppositional defiant disorder","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"886f8db4741e7726ac5b252aa106289d3a777a152385032dc45f84f14e2e45b1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000742","is_excluded":false,"label":"Self-mutilation","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"891e2b5e0f1f39239774079d68ee7a0ad7538320a952aa2bbfe2dc7794ebfe12","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000821","is_excluded":false,"label":"Hypothyroidism","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8a3c76c0e3cd923d36f7d5a6a7e4858de0b11edf63aebc02c1a43723e76689a0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8a5baa15b31929defcea53c0d3dc1a5f059e2363746c6764fe153345b293a2c5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8b7590522aef39aeacc02aeb7d8d3d9862947b14cdeb8da85dedccba2f6c481a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"48/60","hpo_id":"HP:0012385","is_excluded":false,"label":"Camptodactyly","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8bdc2b5b367dcae09d86654795ba466086e25c2e57277d8c20f1b81a6fed18bd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:18245432;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8ca43d33fd3c6d60ee8dc86670949d529f1b14fc18fc15973bddcf5d55a1cfbd","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"1/18","hpo_id":"HP:0000086","is_excluded":false,"label":"Ectopic kidney","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8de559e78fda4c806f04ef200a71cb42eb54cd1b2ae9e5e80f55498583a6cde4","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8df8ba0563203fd6870483651d3a58464ffa1a166fd841ab30c18fa2f162f068","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"8e263a6aada980393cf938d1ebe02386b22016e3bf09b5eebd015c97f2c79857","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"PMID:18245432;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8e7f76b6299e76961d84a38a76fb33368e89d3872be65d1eda066e1b3030ee02","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"84/90","hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"PMID:18245432;PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"900eb851758101fea6f07dc277d8126742f3ed90d382db0f371c9c7a3cf22a09","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"905baab04a616cb5388ed4d2aab18871236aff25acce41685dbc81501b43eaca","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"90eec1443681760f588dc87152663da2df1ab1417d3e60f00b8cf0f57d22aeda","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"12/62","hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"PMID:18245432;PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"934968f28b27ebbb9f5972e1182af681ea755ddb0f86c42195696b6da93780a4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000238","is_excluded":false,"label":"Hydrocephalus","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"936d1ff721b459100d7982182e0e54ea5a7bfb313c239d104323456a43fb7010","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000369","is_excluded":false,"label":"Low-set ears","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"95c97afcc189e04825b1206c596f994092f6aa22a1ac018f7c8177e1f41fa326","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"57/60","hpo_id":"HP:0001319","is_excluded":false,"label":"Neonatal hypotonia","onset_id":"HP:0003577","reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"95c9d1bfaef5107da07169f2a8a72ba3992533f3ea3f645ca18fd5391575f948","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002120","is_excluded":false,"label":"Cerebral cortical atrophy","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"97947a3febc39fe72b92fa0f5942d95d88a77b382c2a89117b0e3a4645722d7f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001476","is_excluded":false,"label":"Delayed closure of the anterior fontanelle","onset_id":null,"reference":"http://www.ncbi.nlm.nih.gov/books/NBK1191/","source_release":"2026-06-23"},"sourceGroups":["other"]},{"frequencyKind":"reported","key":"9883a41d908cc7878a0d378d8430150fa42d67bfc7b079137bb1903fc79f3977","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008872","is_excluded":false,"label":"Feeding difficulties in infancy","onset_id":null,"reference":"PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"99314acca530c4830208ccdaf063c20a078a57cd2e9864e2acd6b86339861212","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006824","is_excluded":false,"label":"Cranial nerve paralysis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"99e6df26fedc47919b2960d4ae510134f6469460f5b1f6545384acabdcfee0f5","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001734","is_excluded":false,"label":"Annular pancreas","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9a29b6d8012da552f0d9ef70688c3e48f8fa0f6846249f2227e280971d81a046","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9b4776740903a3b1db3183f0fdc753c35350c1a944fa920ddc4401463b02aea8","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000047","is_excluded":false,"label":"Hypospadias","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9c06404cc5d126117421de27f861ea1407efcb74d2524f627165ab879e72e334","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9c4e1e0381f484c6e4b9168a7d9c492396ea10e88f4a68073b3359b6692463cb","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"24/74","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"PMID:18245432;PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9dac196f6ba006a5dd2cfc6665ef36abd3182fbfd8c1e60e043be447cc4e7ee1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"58/70","hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a00523c51348cc472c567367bbe4fb4a72f78f8df7c7aaa02af5a0ff496ddce4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0006897","is_excluded":false,"label":"Abducens palsy","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a055cd6dbad094017458211e98d25f75db4b639bcc94c39ab39774ec7ea8cd78","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"40/70","hpo_id":"HP:0000286","is_excluded":false,"label":"Epicanthus","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a24da2caf9f38fe447393c89d7b8aab338a811fd8f6ac9575b568dc3de118c37","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002465","is_excluded":false,"label":"Poor speech","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a30f97e0e032cd501624a3e371e043597d3bacd09ac677e26d25e4acad4d299c","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012733","is_excluded":false,"label":"Macule","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a35ed320c059bddced28018274043790fde9bcc36a5d55239becd83c0c836cdd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"26/30","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":"HP:0003577","reference":"PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a59199e54ee9207dfc40dde4e1d07a8a0b2cfb5b6921a1095c367c9ce9d0f926","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"60/60","hpo_id":"HP:0011228","is_excluded":false,"label":"Horizontal eyebrow","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a63ce261e0f1dd1317426dbdcb8cdc98c83becd352ed9108cb131c84d0eaae1f","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002019","is_excluded":false,"label":"Constipation","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aa4f8dd4c179fdc8bfa4326b2c7e22ef399d8938977c5550cc473f81146d0631","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"aa7660ae3eff4859380646f7a47d2a11ad96fe1230b58e79f974521dd1fffa9d","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac011bc956141a6e4f16fa9f1ebfe74a9e1b2de6212e5e7d8888908df3787832","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000160","is_excluded":false,"label":"Narrow mouth","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ac61934c63c12219ca0d66ac1a7c7709b905d7d44cc49f2d9662a3b63b158f6c","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000358","is_excluded":false,"label":"Posteriorly rotated ears","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"af19f95ca364d54fff65ad5850ae5d10df879729ac6c9f7d9649ddf343c0c420","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"af5088a1709041c41ddfb4eddbd6db4fc77ad35fec6672b3fcc236d2ce9431de","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000464","is_excluded":false,"label":"Abnormality of the neck","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"afe64a07bc7571ab97d42a2828131caeb8d9f0aae7d2acdedbcb1c0b001375df","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008551","is_excluded":false,"label":"Microtia","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b124c8723811cdc96d11385a76b860dfa2453e44bb8151f5603b1e1e85cb8984","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001397","is_excluded":false,"label":"Hepatic steatosis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2364b16d7832a7bb1318e3dbc621ee792025a23932c4e272c55cc098daca701","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"b32a6ffe33fccb88bdaafdf209da9e4965cc3d3a40269984dda61f4f9b9e1ee3","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"19/42","hpo_id":"HP:0000407","is_excluded":false,"label":"Sensorineural hearing impairment","onset_id":null,"reference":"PMID:18245432;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b6f239c27df644f47c997a43db7c79fe124b6c6911ff9f3b30e233eba98dcbc1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000902","is_excluded":false,"label":"Rib fusion","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b805e4b6c7142e378a62e58fda6c76a439249946b6f2dac1e08af2f80d8be202","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"15/42","hpo_id":"HP:0000878","is_excluded":false,"label":"11 pairs of ribs","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b87c5d9c0766ce2799c7c936894d0292ed5d51093878693adaffb0d7c0525031","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001829","is_excluded":false,"label":"Foot polydactyly","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b894a45d687b0a64df757ae7f969f92a9973f031278bf64e8434332efd78f650","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"b9ed11459950f5f4bba3ddebb3a6f110d667347b4fc09783484ec88d492e6b46","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ba9fd4646d4620afd3969c74f191fccdb37169a8534f973fa932cde16d14ca9c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002167","is_excluded":false,"label":"Abnormal speech pattern","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"baab08ce619cc45cb9bdfa44381b324e0a8a400cd760f75f2bed5cbcc5fd6335","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"bb6a668355488d51213a898ed316a0f4c5a5094b5d38d0d38d86ad6f013817be","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"11/60","hpo_id":"HP:0012817","is_excluded":false,"label":"Noncompaction cardiomyopathy","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bc544870355b397f194b181f0659a1e61f30593288f8cb39d2f8362c1b03500f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100559","is_excluded":false,"label":"Lower limb asymmetry","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bd2230d092cf4954c7830e0ee56153daa0a2b6c744f3376fee34efc7370c816c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bfe9ed9ee767774f77543e5624f7a27457ab646012705c9ce454daa927084347","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000582","is_excluded":false,"label":"Upslanted palpebral fissure","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c1e806551bbeacb689a95e326e049daf716690b47dcfe57823ecab368992954a","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"80/90","hpo_id":"HP:0000307","is_excluded":false,"label":"Pointed chin","onset_id":null,"reference":"PMID:18245432;PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c24f655f552e65464b913e6c8f588c6d35be5a6d2e22daca099d16c5d2f3dbf3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c37a6c45becd09f81230b2ad70d5eb2e9b37d55a5b3c61bd3b140bab87ba4298","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000581","is_excluded":false,"label":"Blepharophimosis","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c3c9af2a897d1d98b9275ae916cbd9793b3a474d1697bed523cb030426913927","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c43279829bfbbcbd94f2cac99ec4eca845d3e34008fe1c1dbe8b49acf7e83414","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"15/31","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":"HP:0003593","reference":"PMID:18031548","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c445594c9cba3f7fdea19b5c42ea33e651fe4c95e8d3954942b7ad9489e9f30b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000193","is_excluded":false,"label":"Bifid uvula","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c4e0f0b36bf3e76fe9177ed4ef0d07fdf16f6a8deecebe70d2b2f5116aff9cf0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"3/30","hpo_id":"HP:0002616","is_excluded":false,"label":"Aortic root aneurysm","onset_id":null,"reference":"PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c5e6ed84713f76e0f8fd1b4aad5d2547aebbadea3ba7526c000e73952d196144","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"15/42","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c6d89ec214980b5fb6826e634f52db99415f8d369d23a317eba6f42e7904935b","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001508","is_excluded":false,"label":"Failure to thrive","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c76a262944a5f4bb3231aee764a251300ad3f5b4ee608b75110a6e4a672b2ec1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001840","is_excluded":false,"label":"Metatarsus adductus","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"cc52b0c6bd34eb36ddea9ef89cfdf6eaacecc4c0e7b133b70e5c71be1bfa45ea","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005113","is_excluded":false,"label":"Aortic arch aneurysm","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"cecda8fa997b60af6b37e10c821c822410e291b604d179105f7cf9ab1310af2b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001274","is_excluded":false,"label":"Agenesis of corpus callosum","onset_id":null,"reference":"OMIM:607872","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d13ffc606314ba63ad5fd90fe46e45eee49943ce5454c7d2a95aca393785b079","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"4/30","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"PMID:12687501;ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d1c2b83583915a7154c68fbff2803186d9974e4b6a84941ff34e2d6e236c3d33","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000902","is_excluded":false,"label":"Rib fusion","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d23712466ff215e83d1e8856a24a2539ed630686da238e662633368ed391e96b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"60/60","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d37ce69df87cc9387d8b5bc0a732d4ba1efe3dac4922c70cb84c998e6a176c79","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d674bd696279370159c5e1674eb0b00cdebbdd6028cf570acc6d9db9779b207a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100716","is_excluded":false,"label":"Self-injurious behavior","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d8d22e4d383b619eb79b9b4b119f90e66fbda07145e5e26db44923817a722643","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"d929ce605c697c0a1abd3a564314595ed4a89c562ef432a315286389b2de0e12","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"2/64","hpo_id":"HP:0010316","is_excluded":false,"label":"Ebstein anomaly of the tricuspid valve","onset_id":null,"reference":"PMID:18245432;PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d950ada7c3d348f4a01e35ec213c908b06fa9cedcc38f351b125c8b74d566edd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000878","is_excluded":false,"label":"11 pairs of ribs","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"dbfb00c93b141f6eb181c72ee417d0b6c5adbfb2baa459414b03aaf6ca6a185b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000543","is_excluded":false,"label":"Optic disc pallor","onset_id":null,"reference":"PMID:10507720","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"dc1c3749c7baeb17e11721727b1a3ed9e2bb4a77467e2de11a3daea84f92e2e0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000248","is_excluded":false,"label":"Brachycephaly","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"df434d5c6a61fc6335903add4fccf1671c9ec568ab00b116a1db58671b5c4b23","raw":{"aspect":"P","body_system":"digestive","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002020","is_excluded":false,"label":"Gastroesophageal reflux","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e077620f3b81056ea3b75b1341d1be2033147f4254dda739ae4065ae8df98ee1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"e08c65b66bd777c48e9e8ffece8009971afb7de6293067864b2b4f421c27c17c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"20/30","hpo_id":"HP:0000540","is_excluded":false,"label":"Hypermetropia","onset_id":null,"reference":"PMID:12687501","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e0d7b82cfe7225498dfba6f2dd87515f125f29ac3266b544d53229af52799562","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011097","is_excluded":false,"label":"Epileptic spasm","onset_id":null,"reference":"OMIM:607872","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e24b2a1d4b7d01067f3c12fda880ae626fa6780db0a80cc017e6880c679f3e50","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e377a4857724aea3738de2f9071f0a7a30f1f0a1932512709b975145a04df0a7","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001655","is_excluded":false,"label":"Patent foramen ovale","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e438db1a028defb04306d0ec5a3a6808239a6b630cdef90df5dfbb458ad19d28","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"OMIM:607872","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e7055aa378f93ded2f20fc46670ac8ae5271004805258c4f831c395c0f9d8e12","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"90/90","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:18245432;PMID:17918734;PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"e9b7c85be20d422ec6f81a2028b9399d83bd446cbb65e23f46115ee516d62daf","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000270","is_excluded":false,"label":"Delayed cranial suture closure","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eb6f0fd749525bb36cf8bfe280abf7c79b0f49175aa6035acacd715b5925264c","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002715","is_excluded":false,"label":"Abnormality of the immune system","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eeb9222617db7214cee8420e0e48118bf788f67ad985bd8153a5d270fcb16b2a","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001392","is_excluded":false,"label":"Abnormality of the liver","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f147fc69b756b68dd27e84e237d860dcb3974c4bc31d294f5748d6724f9dbbed","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0100490","is_excluded":false,"label":"Camptodactyly of finger","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f18b4e8691e1f5210263a3a0a73f973bc67e524b229a11503f351427776509c6","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"16/30","hpo_id":"HP:0010722","is_excluded":false,"label":"Asymmetry of the ears","onset_id":null,"reference":"PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f249a8d6bb91461267cb122ccd2e386e82f26846ee4626c6d3e267af427b4fe3","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f27565837767198d63456ae38de5454960cdcfa7bbe8de6762b39b1303ae69e1","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002591","is_excluded":false,"label":"Polyphagia","onset_id":null,"reference":"PMID:20034100","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f40944cf9fc043cfe5f4abbd0ffff047cbe8f715e086aea5c68a3e68b9c521ea","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f54710374312c0c02cba75e95c4d356ac1558d2a4a6709964e34524ec9a02711","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"23/28","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f62026479abffadd07c1d7878dfeb6cde704688bba44c88039025f979e60eeb3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"26/30","hpo_id":"HP:0009237","is_excluded":false,"label":"Short 5th finger","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f722f604c150739ec2546de4355d3ab9a38f12d7ca9635547b48efe872c52979","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"15/60","hpo_id":"HP:0012469","is_excluded":false,"label":"Infantile spasms","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f7ad065bbda56670b5822c6c512bd9412689115409060abe93e9ffe7956c40ad","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"12/30","hpo_id":"HP:0004209","is_excluded":false,"label":"Clinodactyly of the 5th finger","onset_id":null,"reference":"PMID:12687501;PMID:17918734","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f8ed7d11be718b105c0e44156b772f5540e7ab0e1fd0a0f5fb3fcdc686ef7c0e","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002021","is_excluded":false,"label":"Pyloric stenosis","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f9c45bab5b8db514da2c5da5c9a3ddcff7392c3995881f8bbb4d3997d7582ffa","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000648","is_excluded":false,"label":"Optic atrophy","onset_id":null,"reference":"PMID:10507720","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fb16e7a385b9f218c90c592442d013088d5b19121b71de175ab60d282be599f9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fc12875e557e536cde867e079141c4fbf8add2fe841899cde166655dbab640f2","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000204","is_excluded":false,"label":"Cleft upper lip","onset_id":null,"reference":"ISBN-13:978-0721606156","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"fd0e25d2616f130ac6b756090e3744b32defdf1fac35d3cf7e67a11d3c5bd1db","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:1606","disease_name":"1p36 deletion syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008066","is_excluded":false,"label":"Abnormal blistering of the skin","onset_id":null,"reference":"ORPHA:1606","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fedf9c24d5e14d8f93fa5e28556d526530352ceae6360cf61abb2d0faa4fcbd2","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:607872","disease_name":"Chromosome 1p36 deletion syndrome","evidence":"PCS","frequency_raw":"11/54","hpo_id":"HP:0000588","is_excluded":false,"label":"Optic disc coloboma","onset_id":null,"reference":"PMID:18245432","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{"ISBN-13:978-0721606156":"Jones, 6th ed."},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"1p36 deletion syndrome is caused by the deletion of a piece of genetic material from a specific region in the short (p) arm of chromosome 1. In about 50 percent of people with this condition, the deleted region includes the tip of the p arm of chromosome 1. Around 29 percent of affected individuals have deletions that include a section near the end of the chromosome. The remaining 21 percent have complex rearrangements of genetic material that involve this region.
The size of the deletion varies among affected individuals. The signs and symptoms of 1p36 deletion syndrome are likely caused by the loss of multiple genes that are involved in the development of systems such as the brain, heart, and skeleton.
","key":"forms","title":"What causes 1p36 deletion syndrome?"},{"bodyHtml":"People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features, including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.
People with 1p36 deletion syndrome often have unusually short fingers and toes (brachydactyly), permanently bent fingers and toes (camptodactyly), and short feet. They may also have vision or hearing problems. Some affected individuals have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.
Life expectancy varies in people with 1p36 deletion syndrome, but affected individuals can survive into early adulthood.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"1p36-deletion-syndrome","sourceDocuments":[{"name":"1p36 deletion syndrome","reviewed":"2024-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:18:50.848731+00:00","label":"Causes","pageSha256":"4415cdc0f9918bfff60f562d0e3471b73d620094a54b4689e81b8a4a03e4450e","sourceUrl":"https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/1p36-deletion-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":"1p36 deletion syndrome"},"schemaVersion":1}