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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
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1740104, PMID:1840604, PMID:3390991, PMID:6132221, PMID:7057320, PMID:7714110, PMID:8103767, PMID:8370681, PMID:8370682, PMID:8514868, PMID:8550751, PMID:8626836, PMID:8945633, PMID:8989232, PMID:9360520, PMID:9467595, PMID:9580132, PMID:9814475, PMID:10369876, PMID:10443701, PMID:10487710, PMID:11017955, PMID:11443218, PMID:11836335, PMID:12107248, PMID:14660745, PMID:14673472, PMID:15070970, PMID:15356057, PMID:18494865, PMID:18578860 RGD:2301918, RGD:2301917 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      endocrine system disease 4991
        pancreas disease 1103
          neurohypophyseal diabetes insipidus 1
            Congenital Hypopituitarism with Central Diabetes Insipidus 0
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            thalamic disease 195
              hypothalamic disease 195
                pituitary gland disease 150
                  diabetes insipidus 22
                    neurohypophyseal diabetes insipidus 1
                      Congenital Hypopituitarism with Central Diabetes Insipidus 0
paths to the root

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