Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

DIABETES INSIPIDUS, NEPHROGENIC, 1, X-LINKED
Synonyms

NDI

DIABETES INSIPIDUS, NEPHROGENIC, TYPE I

NDI1
ID

http://purl.bioontology.org/ontology/OMIM/304800
altLabel

NDI

DIABETES INSIPIDUS, NEPHROGENIC, TYPE I

NDI1
cui

C1563705
Gene Locus

Xq28
Gene Symbol

NDI1

AVPR2

ADHR

DIR

DI1
Has manifestation

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/MTHU007807

http://purl.bioontology.org/ontology/OMIM/MTHU007806

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

http://purl.bioontology.org/ontology/OMIM/MTHU007804

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

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/MTHU000145

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

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

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

Phenotype description, molecular basis known.
notation

304800
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DIABETES INSIPIDUS, NEPHROGENIC, 1, X-LINKED
Scope Statement

Onset in first weeks of life [MISCELLANEOUS]

Genetic heterogeneity (see 125800) [MISCELLANEOUS]

Caused by mutation in the arginine vasopressin receptor-2 gene (AVPR2, 300538.0001) [MOLECULAR BASIS]
tui

T047
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