{"orpha":2571,"name":"Woods-Black-Norbury syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2571/","orphanet_url":"https://www.orpha.net/en/disease/detail/2571","names":{"fr":{"name":"Syndrome de Woods-Black-Norbury","definition":"Le syndrome immuno-neurologique lié à l'X se caractérise par un déficit immunitaire et des troubles neurologiques chez les filles et par une mort néonatale chez les garçons."},"de":{"name":"Woods-Black-Norbury-Syndrom","definition":"Die X-chromosomale immuno-neurologische Krankheit ist gekennzeichnet durch Immundefekt und neurologische Störungen im weiblichen Geschlecht und Tod der männlichen Neugeborenen."},"es":{"name":"Síndrome de Woods-Black-Norbury","definition":"Se caracteriza por muerte durante el periodo neonatal en los varones y por deficiencia inmunitaria y problemas neurológicos en las mujeres."},"it":{"name":"Sindrome di Woods-Black-Norbury"},"nl":{"name":"Syndroom van Woods-Black-Norbury","definition":"X-gebonden immunoneurologische aandoening wordt gekenmerkt door immuundeficiëntie en neurologische aandoeningen bij vrouwen, en door neonatale sterfte bij mannen."},"pt":{"name":"Doença imunoneurológica ligada ao X","synonyms":["Síndrome Woods-Black-Norbury"],"definition":"A doença imunoneurológica ligada ao cromossoma X é caracterizada por deficiência imune e doenças neurológicas nos indivíduos do sexo feminino e por morte neonatal nos indivíduos do sexo masculino."},"pl":{"name":"Zaburzenie immunologiczno-neurologiczne sprzężone z chromosomem X","synonyms":["Zespół Woodsa, Blacka i Norbury"]},"cs":{"name":"X-vázaná imunoneurologická porucha","synonyms":["Woodsův-Blackův-Norburyho syndrom","Woods-Black-Norburyho syndrom"]},"uk":{"name":"Х-зчеплене імуноневрологічне захворювання","synonyms":["Синдром Вудса-Блека-Норбері"],"definition":"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males."},"zh":{"name":"X-连锁免疫神经紊乱","synonyms":["Woods-Black-Norbury综合征"]},"tr":{"name":"X'e bağlı immünonörolojik bozukluk","synonyms":["Woods-Black-Norbury sendromu"]}},"xrefs":[{"source":"OMIM","code":"300076","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1464555617"},{"source":"MONDO","code":"0010243","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536743","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848144","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":331232,"name":"Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-26","source":null,"terms":[{"hpo":"HP:0012638","label":"Abnormality of nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008348","label":"Decreased circulating IgG2 level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null}]}}