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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609153
http://purl.bioontology.org/ontology/OMIM/609153
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|---|---|
| Preferred Name | PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK |
| Synonyms |
PSEUDOHYPERKALEMIA CHISWICK
CRYOHYDROCYTOSIS, MILD
PSEUDOHYPERKALEMIA FALKIRK
PSEUDOHYPERKALEMIA EAST LONDON
PSEUDOHYPERKALEMIA LILLE
PSHK2
PSEUDOHYPERKALEMIA CARDIFF
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PSEUDOHYPERKALEMIA CHISWICK
CRYOHYDROCYTOSIS, MILD
PSEUDOHYPERKALEMIA FALKIRK
PSEUDOHYPERKALEMIA EAST LONDON
PSEUDOHYPERKALEMIA LILLE
PSHK2
PSEUDOHYPERKALEMIA CARDIFF
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|---|---|
| prefLabel | PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK
|
| Gene Symbol |
LAN
DUH3
MCOPCB7
PSHK2
ABCB6
MTABC3
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| Scope Statement | U-shaped pattern of temperature-dependent potassium flux (in some patients) [MISCELLANEOUS]
Caused by mutation in the ATP-binding cassette, subfamily B, member 6 gene (ABCB6, 605452.0013) [MOLECULAR BASIS]
'Shoulder' pattern of temperature-dependent potassium flux (in some patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q36
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 609153
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1861453
C1836705
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |