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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:neurohypophyseal diabetes insipidus
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Accession:DOID:12388 term browser browse the term
Definition:A genetic or acquired polyuric disorder caused by a deficiency of VASOPRESSINS secreted by the NEUROHYPOPHYSIS. Clinical signs include the excretion of large volumes of dilute URINE; HYPERNATREMIA; THIRST; and polydipsia. Etiologies include HEAD TRAUMA; surgeries and diseases involving the HYPOTHALAMUS and the PITUITARY GLAND. This disorder may also be caused by mutations of genes such as ARVP encoding vasopressin and its corresponding neurophysin (NEUROPHYSINS).
Synonyms:exact_synonym: CDI;   Diabetes Insipidus Cranial Type;   Diabetes Insipidus Primary Central;   Diabetes Insipidus Secondary To Vasopressin Deficiency;   Diabetes Insipidus, Neurohypophyseal Type;   Neurogenic Diabetes Insipidus;   Pituitary Diabetes Insipidus;   Vasopressin Defective Diabetes Insipidus;   central diabetes insipidus;   vasopressin deficiency
 narrow_synonym: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
 primary_id: MESH:D020790
 alt_id: OMIM:125700;   OMIM:304900;   RDO:0001328
 xref: NCI:C84933
For additional species annotation, visit the Alliance of Genome Resources.


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neurohypophyseal diabetes insipidus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avp arginine vasopressin ISO
IEP
DNA:missense mutations: :multiple
ClinVar Annotator: match by OMIM:125700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive
OMIM
ClinVar
CTD
PMID:1740104 PMID:1840604 PMID:3390991 PMID:6132221 PMID:7057320 More... RGD:2301918, RGD:2301917 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        pancreas disease 1117
          neurohypophyseal diabetes insipidus 1
            Congenital Hypopituitarism with Central Diabetes Insipidus 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  diabetes insipidus 25
                    neurohypophyseal diabetes insipidus 1
                      Congenital Hypopituitarism with Central Diabetes Insipidus 0
paths to the root