{"orpha":79500,"name":"DOORS syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive deafness-onychodystrophy syndrome","Autosomal recessive hearing loss-onychodystrophy syndrome","DOOR syndrome","Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome","Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome","Deafness-onychoosteodystrophy-intellectual disability syndrome","Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome","Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome","Hearing loss-onychoosteodystrophy-intellectual disability syndrome"],"definition":"A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79500/","orphanet_url":"https://www.orpha.net/en/disease/detail/79500","names":{"fr":{"name":"Syndrome DOORS","synonyms":["Syndrome DOOR","Syndrome de surdité-onycho-ostéodystrophie-déficience intellectuelle","Syndrome de surdité-onycho-ostéodystrophie-déficience intellectuelle-épilepsie","Syndrome de surdité-onychodystrophie autosomique récessif","Syndrome de surdité-onychodystrophie-ostéodystrophie-déficience intellectuelle"],"definition":"Anomalies congénitales multiples rares/ déficience intellectuelle syndromique d'origine génétique caractérisée par une perte auditive de perception (surdité), une onychodystrophie, une ostéodystrophie, une déficience intellectuelle légère à profonde et des convulsions."},"de":{"name":"DOORS-Syndrom","synonyms":["DOOR-Syndrom","Hörverlust-Onychodystrophie-Osteodystrophie-Intelligenzminderung-Krampfanfälle-Syndrom","Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-rezessives","Syndromale Schwerhörigkeit mit Onychodystrophie und Intelligenzminderung"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien und intellektueller Entwicklungsstörung, das durch Schallempfindungsschwerhörigkeit, Onychodystrophie, Osteodystrophie, leichte bis hochgradige Intelligenzminderung und Krampfanfälle gekennzeichnet ist."},"es":{"name":"Síndrome DOORS","synonyms":["Síndrome DOOR","Síndrome de hipoacusia-onicodistrofia autosómica recesiva","Síndrome de hipoacusia-onicodistrofia-osteodistrofia-discapacidad intelectual","Síndrome de hipoacusia-onicodistrofia-osteodistrofia-discapacidad intelectual-crisis","Síndrome de hipoacusia-onicoosteodistrofia-discapacidad intelectual","Síndrome de sordera-onicodistrofia autosómica recesiva","Síndrome de sordera-onicodistrofia-osteodistrofia-discapacidad intelectual","Síndrome de sordera-onicodistrofia-osteodistrofia-discapacidad intelectual-crisis","Síndrome de sordera-onicoosteodistrofia-discapacidad intelectual"],"definition":"Es un síndrome de anomalías congénitas múltiples y discapacidad intelectual poco frecuente caracterizado por pérdida auditiva neurosensorial (sordera), onicodistrofia, osteodistrofia, discapacidad intelectual de leve a grave y crisis epilépticas."},"it":{"name":"Sindrome DOORS","synonyms":["Sindrome perdita dell'udito-onicodistrofia-osteodistrofia-disabilità intellettiva","Sindrome perdita dell'udito-onicodistrofia-osteodistrofia-disabilità intellettiva-crisi epilettiche","Sindrome DOOR","Sindrome sordità-onico-osteodistrofia-deficit cognitivo","Sindrome sordità-onicodistrofia, autosomica recessiva","Sindrome sordità-onicodistrofia-osteodistrofia-deficit cognitivo","Sindrome sordità-onicodistrofia autosomica recessiva","Sindrome sordità-onicodistrofia-osteodistrofia-disabilità intellettiva-crisi epilettiche","Sindrome sordità-onicoosteodistrofia-disabilità intellettiva"],"definition":"Si tratta di una sindrome rara da anomalie e disabilità intellettiva, caratterizzata da sordità neurosensoriale, onicodistrofia, osteodistrofia, disabilità intellettiva a lieve-grave e crisi epilettiche."},"nl":{"name":"DOORS-syndroom","synonyms":["Autosomaal recessief doofheid - onychodystrofie-syndroom","DOOR-syndroom","Doofheid - onycho-osteodystrofie - intellectuele achterstand-syndroom","Doofheid - onychodystrofie - osteodystrofie - intellectuele achterstand - insulten-syndroom","Doofheid - onychodystrofie - osteodystrofie - intellectuele achterstand-syndroom"],"definition":"Een meervoudige congenitale anomalieën - intellectuele achterstand-syndroom gekarakteriseerd door sensorineuraal gehoorverlies (doofheid), onychodystrofie, osteodystrofie, milde tot heel ernstige intellectuele achterstand, en insulten."},"pt":{"name":"Síndrome DOORS","synonyms":["Síndrome de perda auditiva-onico-osteodistrofia-perturbação do desenvolvimento intelectual","Síndrome de perda auditiva-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual","Síndrome de perda auditiva-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual-convulsões","Síndrome de surdez-onico-osteodistrofia-perturbação do desenvolvimento intelectual","Síndrome de surdez-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual","Síndrome de surdez-onicodistrofia-osteodistrofia-perturbação do desenvolvimento intelectual-convulsões"]},"pl":{"name":"Zespół DOORS","synonyms":["Zespół DOOR","Autosomalny recesywny zespół głuchoty i onychodystrofii","Zespół głuchoty, onycho-osteodystrofii i niepełnosprawności intelektualnej","Zespół głuchoty, onychdystrofii, osteodystrofii i niepełnosprawności intelektualnej","Zespół głuchoty, onychdystrofii, osteodystrofii, niepełnosprawności intelektualnej i napadów padaczkowych"]},"cs":{"name":"DOORS syndrom","synonyms":["DOOR syndrom","Syndrom zahrnující hluchotu, onychodystrofii, osteodystrofii a mentální retardaci","Syndrom zahrnující hluchotu, onychoosteodystrofii a mentální retardaci","Autozomálně recesivní syndrom zahrnující hluchotu a onychodystrofii"]},"uk":{"name":"Синдром DOORS","synonyms":["Синдром аутосомно-рецесивної глухоти-ніходистрофії","Аутосомно-рецесивний синдром приглухуватості-оніходистрофії","Синдром глухоти-оніходистрофії-остеодистрофії-інтелектуальної недостатності","Синдром глухоти-оніходистрофії-остеодистрофії-інтелектуальної недостатності-судом","Синдром глухоти-онкоостеодистрофії-інтелектуальної недостатності","Синдром DOOR","Синдром втрати слуху - оніходистрофії - остеодистрофіїя - інтелектуальної недостатності","Синдром втрати слуху-оніходистрофії-остеодистрофії-інтелектуальної недостатності-судом","Синдром втрати слуху-онкоостеодистрофії-інтелектуальної недостатності"],"definition":"A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures."},"zh":{"name":"DOORS综合征","synonyms":["听力丧失-甲营养不良-骨营养不良-智力障碍-惊厥综合征"]},"tr":{"name":"DOORS sendromu","synonyms":["DOOR sendromu","Otozomal Çekinik sağırlık-onikodistrofi sendromu","Otozomal Çekinik işitme kaybı onikodistrofi sendromu","Sağırlık-onikoosteodistrofi-zihinsel yetersizlik sendromu","İşitme kaybı-onikoosteodistrofi-zihinsel yetersizlik sendromu","Sağırlık-onikodistrofi-osteodistrofi-zihinsel yetersizlik sendromu","İşitme kaybı-onikodistrofi-osteodistrofi-zihinsel yetersizlik sendromu","Sağırlık-onikodistrofi-osteodistrofi-zihinsel yetersizlik-nöbet sendromu","İşitme kaybı-onikodistrofi-osteodistrofi-zihinsel yetersizlik-nöbetler sendromu"]}},"xrefs":[{"source":"OMIM","code":"220500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1781537287"},{"source":"MONDO","code":"0009079","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563052","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795934","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1685","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080835","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1674,"name":"Digitorenocerebral syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3231,"name":"Deafness-onychodystrophy syndrome","classifications":[147,156,181,187,189,200]}],"children":[],"genes":[{"symbol":"ATP6V1B2","name":"ATPase H+ transporting V1 subunit B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32873933[PMID]","hgnc":"854","ensembl":"ENSG00000147416","omim":"606939","loci":["8p21.3"]},{"symbol":"TBC1D24","name":"TBC1 domain family member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24291220[PMID]","hgnc":"29203","ensembl":"ENSG00000162065","omim":"613577","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-18","source":"17994565[PMID]_24291220[PMID]_25719194[PMID]_18438887[PMID]_5516283[PMID]","terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001780","label":"Abnormality of toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010347","label":"Aplasia/Hypoplasia of the phalanges of the 2nd toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012402","label":"Increased urine alpha-ketoglutarate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000675","label":"Macrodontia of permanent maxillary central incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031282","label":"Malalignment of the great toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004442","label":"Sagittal craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031423","label":"Small cerebellar cortex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000878","label":"11 pairs of ribs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011409","label":"Abnormality of placental membranes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011326","label":"Anterior plagiocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006934","label":"Congenital nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004626","label":"Lumbar scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010497","label":"Sirenomelia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Very rare (<4-1%)","criteria":null}]}}