neurohypophyseal diabetes insipidus
Information
- Disease name
- neurohypophyseal diabetes insipidus
- Disease ID
- DOID:12388
- Description
- "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/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0081055
- Cross Reference ID (Disease Ontology)
- MESH:D020790
- Cross Reference ID (Disease Ontology)
- MIM:125700
- Cross Reference ID (Disease Ontology)
- NCI:C84933
- Cross Reference ID (Disease Ontology)
- ORDO:30925
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:267393007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0687720
- Exact Synonym (Disease Ontology)
- Pituitary diabetes insipidus
- Exact Synonym (Disease Ontology)
- vasopressin defective diabetes insipidus
- Exact Synonym (Disease Ontology)
- Vasopressin deficiency