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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/214700
http://purl.bioontology.org/ontology/OMIM/214700
|
|---|---|
| Preferred Name | DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL |
| Synonyms |
CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE
DIAR1
CHLORIDORRHEA, CONGENITAL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE
DIAR1
CHLORIDORRHEA, CONGENITAL
|
|---|---|
| prefLabel | DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
|
| Gene Symbol |
DRA
CLD
SLC26A3
|
| Scope Statement | Electrolyte imbalances can mimic renal Bartter syndrome (601678) [MISCELLANEOUS]
Onset in first weeks to months of life [MISCELLANEOUS]
Chronic disorder [MISCELLANEOUS]
Caused by mutation in the solute carrier family 26, member 3 gene (SLC26A3, 126650.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7q22-q31.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 214700
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0267662
|
| 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 |