About: ABCD syndrome

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Albinism-black lock-cell migration disorder (ABCD syndrome) is the initialism for the following terms and concepts that describe a condition affecting a person's physical appearance and physiology: (1) A – albinism, (2) B – black lock of hair, (3) C – cell migration disorder of the neurocytes of the gut, and (4) D – sensorineural deafness. The syndrome is caused by mutation in the endothelin B receptor gene (EDNRB).

Attributes	Values
rdf:type	Thing company Disease yago:WikicatCellSurfaceReceptorDeficiencies yago:WikicatCutaneousConditions yago:Abstraction100002137 yago:Act100030358 yago:Activity100407535 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Event100029378 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Lack114449405 yago:Need114449126 yago:PathologicalState114051917 yago:Perturbation107428450 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders yago:YagoPermanentlyLocatedEntity disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatDisturbancesOfHumanPigmentation yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	ABCD syndrome (en) متلازمة إيه بي سي دي (ar) Síndrome ABCD (es) Sindrome ABCD (it) Syndrome ABCD (fr)
rdfs:comment	متلازمة إيه بي سي دي (بالإنجليزية: ABCD syndrome)‏ هي اختصارٌ للبرص (بالإنجليزية: Albinism)‏، ومنظرُ أسود للشعر (black lock of hair)، واضطراب هجرة الخلايا (cell migration disorder) في عصبونات الأمعاء، والصمم الحسي العصبي (بالإنجليزية: sensorineural deafness)‏. وُجد أنَّ هذه المتلازمة تحدث بسبب طفرةٍ في (EDNRB). (ar) Albinism-black lock-cell migration disorder (ABCD syndrome) is the initialism for the following terms and concepts that describe a condition affecting a person's physical appearance and physiology: (1) A – albinism, (2) B – black lock of hair, (3) C – cell migration disorder of the neurocytes of the gut, and (4) D – sensorineural deafness. The syndrome is caused by mutation in the endothelin B receptor gene (EDNRB). (en) El Síndrome ABCD es un trastorno poco común causado por una extraña mutación del gen del receptor de la endotelina B. El acrónimo ABCD hace referencia al «albinismo (Albinism), mechón de cabello negro (Black lock hair), desórdenes de la migración de los neurocitos intestinales (Cell migration disorder of the neurocytes of the gut) y sordera (Deafness)», según varios portales médicos. (es) Le syndrome ABCD est défini par l'association d'un albinisme avec une mèche noire, de troubles de la migration des neurocytes de l'intestin (maladie de Hirschsprung) et d'une surdité neurosensorielle. On a découvert que la maladie était causée par des mutations dans le gène du récepteur de l'endothéline de type B (EDNRB). ABCD est le sigle de « Albinism, Black lock, Cell migration disorder of the neurocytes of the gut and sensorineural Deafness ». C'est un variant du syndrome de Shah-Waardenburg. (fr) La sindrome ABCD è l'acronimo inglese di albinismo, ciocca nera di capelli, disturbo della migrazione cellulare dei neurociti dell'intestino e ipoacusia (albinism, black lock of hair, cell migration disorder of the neurocytes of the gut, and sensorineural deafnes). È causata da una mutazione del gene del recettore dell'endotelina di tipo B (EDNRB). (it)
foaf:name	ABCD syndrome (en)
name	ABCD syndrome (en)
dcterms:subject	Rare syndromes Cell surface receptor deficiencies Disturbances of human pigmentation
Wikipage page ID	3062597 (xsd:integer)
Wikipage revision ID	1124915347 (xsd:integer)
Link from a Wikipage to another Wikipage	Homozygous Petrus Johannes Waardenburg DNA Unibrow Vitiligo Depigmentation Gel electrophoresis Symptom Acronym Hirschsprung's disease Rare syndromes Cell surface receptor deficiencies Disturbances of human pigmentation Albinism Physiology Endothelin B receptor gene Cerebral cortex Waardenburg syndrome Photophobia Melanocytes List of cutaneous conditions Autoimmune disorder Sensorineural deafness Blaschko Neurocyte
Link from a Wikipage to an external page	https://web.archive.org/web/20100412044440/http:/ghr.nlm.nih.gov/condition=waardenburgsyndrome/show/OMIM https://web.archive.org/web/20160304025934/http:/www.genecards.org/cgi-bin/carddisp%3Fgene=EDNRB http://ghr.nlm.nih.gov/condition=waardenburgsyndrome/show/OMIM
sameAs	ABCD syndrome ABCD syndrome ABCD syndrome ABCD syndrome ABCD syndrome ABCD syndrome ABCD syndrome ABCD syndrome ABCD syndrome ABCD syndrome
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DiseasesDB	33683 (xsd:integer)

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