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Details on Person Rh deficiency syndrome

Class:IdDisease:5623555
_displayNameRh deficiency syndrome
_timestamp2014-09-17 15:39:18
created[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17
identifier0050641
nameRh deficiency syndrome
referenceDatabase[ReferenceDatabase:1247631] DOID
(disease)[Pathway:5619042] Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) [Homo sapiens]
[FailedReaction:5623051] Defective RHAG does not transport NH4+ from cytosol to extracellular region (rbc) [Homo sapiens]
[EntityWithAccessionedSequence:5623021] RHAG G280R [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5623024] RHAG V270I [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5623025] RHAG A363Lfs*15 [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5623026] RHAG S79N [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5623035] RHAG G380V [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5623046] RHAG P52Dfs*57 [plasma membrane] [Homo sapiens]
[DefinedSet:5623052] RHAG mutants [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by Rh deficiency syndrome (5623555)