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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/125800
http://purl.bioontology.org/ontology/OMIM/125800
|
|---|---|
| Preferred Name | DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL |
| Synonyms |
NDI2
DIABETES INSIPIDUS, NEPHROGENIC, TYPE II
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NDI2
DIABETES INSIPIDUS, NEPHROGENIC, TYPE II
|
|---|---|
| prefLabel | DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL
|
| Gene Symbol |
AQP2
NDI2
|
| Scope Statement | Onset in first weeks of life [MISCELLANEOUS]
Both autosomal dominant and autosomal recessive inheritance have been reported [MISCELLANEOUS]
Genetic heterogeneity (see 304800) [MISCELLANEOUS]
Caused by mutation in the aquaporin-2 gene (AQP2, 107777.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 125800
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1563706
|
| Moved from | 222000
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |