Syndrome ABCD (Q3508565)

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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) anglais
  • Abcd, syndrome
  • Syndrome Abcd
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Syndrome ABCD
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  • Abcd, syndrome
  • Syndrome Abcd
anglais
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)
  • ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS
  • albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness
  • ABCDS

Déclarations

Identifiants

identifiant KEGG
H00823
0 référence
identifiant Orphanet
918
0 référence
UniProt disease ID anglais
DI-00013
0 référence
 
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