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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/194380
http://purl.bioontology.org/ontology/OMIM/194380
|
|---|---|
| Preferred Name | DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA |
| Synonyms |
PSEUDOHYPERKALEMIA EDINBURGH
PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
DESICCYTOSIS, HEREDITARY
DEHYDRATED HEREDITARY STOMATOCYTOSIS
DHS
PSHK1
XEROCYTOSIS, HEREDITARY
DHS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PSEUDOHYPERKALEMIA EDINBURGH
PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
DESICCYTOSIS, HEREDITARY
DEHYDRATED HEREDITARY STOMATOCYTOSIS
DHS
PSHK1
XEROCYTOSIS, HEREDITARY
DHS1
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|---|---|
| prefLabel | DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
|
| Gene Symbol |
MIB
DHS
PIEZO1
FAM38A
ER
LMPHM6
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| Scope Statement | Episodes of fatigue or weakness (in some patients) [MISCELLANEOUS]
Caused by mutation in the PIEZO1 ion channel gene (PIEZO1, 611184.0001) [MOLECULAR BASIS]
Splenectomy increases thrombotic risk in these patients [MISCELLANEOUS]
Hemolysis may be exercise-induced [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q24.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 194380
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0272051
C4551512
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| Moved from |
185010
177720
603528
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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 |