Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Abnormality of renin-angiotensin system (HP:0000847)help
..Starting node
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Abnormal circulating aldosterone (HP:0040085)help
Term ID: 40085
Name: Abnormal circulating aldosterone
Synonym: Abnormal circulating aldosterone; Abnormal plasma aldosterone
Definition:
Comments:
Reference: HP:0040085
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal circulating renin (HP:0040084) help
..expandHyperactive renin-angiotensin system (HP:0000841) 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:0040085HP:0040085Abnormal circulating aldosterone0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0040085HP:0040085Abnormal circulating aldosterone0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0040085HP:0040085Abnormal circulating aldosterone0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0040085HP:0040085Abnormal circulating aldosterone0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0040085HP:0040085Abnormal circulating aldosterone0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0040085HP:0040085Abnormal circulating aldosterone0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent67
HP:0040085HP:0040085Abnormal circulating aldosterone0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent61
HP:0040085HP:0040085Abnormal circulating aldosterone0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040281 - Very frequent57


Genes (8) :CDKN1A CDKN1B CDKN2B CDKN2C MEN1 SCNN1A SCNN1B SCNN1G

Diseases (2) :ORPHA:652 ORPHA:171876
 

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