Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Diabetes insipidus (HP:0000873)help
..Starting node
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Nephrogenic diabetes insipidus (HP:0009806)help
Term ID: 9806
Name: Nephrogenic diabetes insipidus
Synonym:
Definition: A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).
Comments:
Reference: HP:0009806
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCentral diabetes insipidus (HP:0000863) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009806HP:0009806Nephrogenic diabetes insipidus0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0009806HP:0009806Nephrogenic diabetes insipidus0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040280 - Obligate75
HP:0009806HP:0009806Nephrogenic diabetes insipidus0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0009806HP:0009806Nephrogenic diabetes insipidus0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040280 - Obligate67
HP:0009806HP:0009806Nephrogenic diabetes insipidus0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0009806HP:0009806Nephrogenic diabetes insipidus0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0009806HP:0009806Nephrogenic diabetes insipidus0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2HP:0040283 - Occasional27
HP:0009806HP:0009806Nephrogenic diabetes insipidus0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1HP:0040283 - Occasional63


Genes (7) :AQP2 ARL6 AVPR2 BBS1 CCDC28B VIPAS39 VPS33B

Diseases (5) :OMIM:125800 ORPHA:223 OMIM:209900 OMIM:613404 OMIM:208085
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.