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. [ url:https://pubmed.ncbi.nlm.nih.gov/15070970/ ]
This is just here as a test because I lose it
Term information
database
cross reference
- ORDO:30925
- OMIM:125700
- UMLS_CUI:C0687720
- MESH:D020790
- NCI:C84933
- SNOMEDCT_US_2021_09_01:267393007
Subsets
NCIthesaurus
comment
- OMIM mapping confirmed by DO. [SN].
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.
has exact synonym
- vasopressin defective diabetes insipidus
- central diabetes insipidus
- Vasopressin deficiency
- Pituitary diabetes insipidus
has obo namespace
- disease_ontology
id
- DOID:12388