Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL
Synonyms

NDI2

DIABETES INSIPIDUS, NEPHROGENIC, TYPE II
ID

http://purl.bioontology.org/ontology/OMIM/125800
altLabel

NDI2

DIABETES INSIPIDUS, NEPHROGENIC, TYPE II
cui

C1563706
Gene Locus

12q13
Gene Symbol

AQP2

NDI2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU018604

http://purl.bioontology.org/ontology/OMIM/MTHU007801

http://purl.bioontology.org/ontology/OMIM/MTHU003378

http://purl.bioontology.org/ontology/OMIM/MTHU007803

http://purl.bioontology.org/ontology/OMIM/MTHU026956

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU018605

http://purl.bioontology.org/ontology/OMIM/MTHU004731

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU007812

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU018602

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU007802

http://purl.bioontology.org/ontology/OMIM/MTHU007811

http://purl.bioontology.org/ontology/OMIM/MTHU018603

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

222000
notation

125800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL
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]
tui

T047
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