ABCD syndrome

Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)
rdfs:label
"ABCD syndrome"@en
skos:altLabel
"ABCDS"@en
"ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS"@en
"albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness"@en
schema:description
"Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)"@en
schema:dateModified "2026-10-24T00:42:58+00:00"^^xsd:dateTime
schema:version 2560168243
wikibase:identifiers 13
wikibase:sitelinks 8
wikibase:statements 31
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p:P699 wd:statement/Q3508565-11FDFFFF-423A-4287-9B86-1AA58E22F6B2
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C535334>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010895>
p:direct-normalized/P6366 <https://makg.org/entity/2775853878>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00823>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0050600>
wdt:P11430 "DI-00013"
wdt:P14914 "D00918"
wdt:P1550 "918"
wdt:P1995 genetics
wdt:P2293 EDNRB
wdt:P279 autosomal recessive disease
Waardenburg-Shah syndrome
wdt:P2888 <http://identifiers.org/doid/DOID:0050600>
<http://purl.obolibrary.org/obo/DOID_0050600>
wdt:P2892 "C1838099"
wdt:P31 type of disease
wdt:P3417 "ABCD-Syndrome"
wdt:P486 "C535334"
wdt:P492 "600501"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010895"
wdt:P557 "33683"
wdt:P6366 "2775853878"
wdt:P646 "/m/08nzs6"
wdt:P6532 deafness
Hirschsprung's disease
congenital onset
Perinatal mortality
Abnormal auditory evoked potentials
fetal macrosomia
aganglionosis, total intestinal
albinism
polycythemia
wdt:P665 "H00823"
wdt:P699 "DOID:0050600"
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