Human Phenotype Ontology 
Grandparent Node:
expandPhenotypic abnormality (HP:0000118)help
Parent Node:
expandAbnormality of the endocrine system (HP:0000818)help
..Starting node
..expandAbnormality of renin-angiotensin system (HP:0000847)help
Term ID: 847
Name: Abnormality of renin-angiotensin system
Synonym: Abnormality of the renin-aldosterone axis
Definition: An abnormality of the renin-angiotensin system.
Comments:
Reference: HP:0000847
Genes and Diseases:
 
       Child Nodes:
........expandHyperactive renin-angiotensin system (HP:0000841) help
........expandAbnormal circulating renin (HP:0040084) help
................... HP:0000848 Increased circulating renin level
................... HP:0003351 Decreased circulating renin level
........expandAbnormal circulating aldosterone (HP:0040085) help

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the pineal gland (HP:0012680) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes insipidus (HP:0000873) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000847HP:0000847Abnormality of renin-angiotensin system0 CL E G H
HP:0000847HP:0040085Abnormal circulating aldosterone1 CL E G H
HP:0000847HP:0000841Hyperactive renin-angiotensin system1 CL E G H
HP:0000847HP:0040084Abnormal circulating renin1 CL E G H
HP:0000847HP:0000848Increased circulating renin level2 CL E G H
HP:0000847HP:0003351Decreased circulating renin level2 CL E G H


Genes (21) :AVPR2 CACNA1D CASR CLCNKB CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 HSD3B2 KCNJ1 KCNJ10 KCNJ5 MAGED2 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3

Diseases (29) :369929 607364 90795 403 90793 241200 251274 177735 264350 601678 214700 300539 615474 601198 289548 168558 202010 103900 203400 610600 218030 90791 612780 613677 300971 605115 177200 618114 263800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.