neurohypophyseal diabetes insipidus

Summary
Synonym
  • Pituitary diabetes insipidus
  • Vasopressin deficiency
  • vasopressin defective diabetes insipidus
Definition
A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13.
Super Class
autosomal dominant disease central diabetes insipidus
Disease Ontology
DOID:12388
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
551 AVP arginine vasopressin
Displaying 1 entry
Gene ID Gene Symbol Description Source
11998 Avp arginine vasopressin
Displaying 1 entry
Gene ID Gene Symbol Description Source
24221 Avp arginine vasopressin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024