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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | neurohypophyseal diabetes insipidus | |
| Synonyms |
Pituitary diabetes insipidus vasopressin defective diabetes insipidus Vasopressin deficiency |
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| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12388 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
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| alternative label |
Pituitary diabetes insipidus vasopressin defective diabetes insipidus Vasopressin deficiency
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:267393007 MESH:D020790 UMLS_CUI:C0687720 MIM:125700 NCI:C84933 ORDO:30925
|
|
| 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. OMIM mapping confirmed by DO. [SN].
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| has exact synonym |
Pituitary diabetes insipidus vasopressin defective diabetes insipidus Vasopressin deficiency
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:12388
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| in_subset | ||
| label |
neurohypophyseal diabetes insipidus
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|
| notation |
DOID:12388
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|
| note |
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. OMIM mapping confirmed by DO. [SN].
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|
| preferred label |
neurohypophyseal diabetes insipidus
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|
| prefLabel |
neurohypophyseal diabetes insipidus
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| subClassOf |
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