Experimental Factor Ontology

Last uploaded: December 16, 2024
Preferred Name

neurohypophyseal diabetes insipidus
Synonyms

diabetes insipidus, cranial type

hereditary central diabetes insipidus

neurogenic diabetes insipidus

diabetes insipidus, neurohypophyseal

diabetes insipidus, primary central

diabetes insipidus of pituitary gland

hereditary neurogenic diabetes insipidus

pituitary gland diabetes insipidus

ADH deficiency

vasopressin deficiency

Arginine vasopressin deficiency

hereditary CDI

pituitary diabetes insipidus

vasopressin defective diabetes insipidus

AVP deficiency

antidiuretic hormone deficiency

Definitions

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

ID

http://purl.obolibrary.org/obo/MONDO_0007450

database_cross_reference

Orphanet:30925

NANDO:2201050

icd11.foundation:97299603

UMLS:C0342394

SCTID:45369008

MEDGEN:574999

OMIM:125700

NCIT:C84933

DOID:12388

GARD:16629

definition

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.

exactMatch

http://identifiers.org/medgen/574999

http://purl.obolibrary.org/obo/DOID_12388

http://identifiers.org/snomedct/45369008

http://purl.obolibrary.org/obo/NCIT_C84933

http://www.orpha.net/ORDO/Orphanet_30925

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/97299603

https://omim.org/entry/125700

http://linkedlifedata.com/resource/umls/id/C0342394

has_exact_synonym

diabetes insipidus of pituitary gland

hereditary neurogenic diabetes insipidus

pituitary gland diabetes insipidus

ADH deficiency

vasopressin deficiency

Arginine vasopressin deficiency

hereditary CDI

pituitary diabetes insipidus

vasopressin defective diabetes insipidus

AVP deficiency

antidiuretic hormone deficiency

has_related_synonym

diabetes insipidus, cranial type

hereditary central diabetes insipidus

neurogenic diabetes insipidus

diabetes insipidus, neurohypophyseal

diabetes insipidus, primary central

id

MONDO:0007450

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder

label

neurohypophyseal diabetes insipidus

notation

MONDO:0007450

preferred label

neurohypophyseal diabetes insipidus

prefLabel

neurohypophyseal diabetes insipidus

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004782

http://purl.obolibrary.org/obo/MONDO_0000426

http://purl.obolibrary.org/obo/MONDO_0100191

http://purl.obolibrary.org/obo/MONDO_0015127

http://purl.obolibrary.org/obo/MONDO_0100545

http://purl.obolibrary.org/obo/MONDO_0100070

http://www.ebi.ac.uk/efo/EFO_0009607

Delete Subject Author Type Created
No notes to display