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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 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. (DO)
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;   vasopressin deficiency
 narrow_synonym: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
 primary_id: MESH:D020790
 alt_id: OMIM:125700
 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
IAGP		 DNA:missense mutations: :multiple
CTD Direct Evidence: marker/mechanism
OMIM:125700 | OMIM:304900
ClinVar Annotator: match by term: Diabetes insipidus, neurohypophyseal, autosomal recessive | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1740104 PMID:1840604 PMID:3390991 PMID:6132221 PMID:7057320 More... RGD:2301918, RGD:2301917 NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      endocrine system disease 6290
        pancreas disease 978
          neurohypophyseal diabetes insipidus 1
            Congenital Hypopituitarism with Central Diabetes Insipidus 0
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            hypothalamic disease 480
              pituitary gland disease 249
                diabetes insipidus 25
                  central diabetes insipidus 1
                    neurohypophyseal diabetes insipidus 1
                      Congenital Hypopituitarism with Central Diabetes Insipidus 0
paths to the root