Human Phenotype Ontology 
Grandparent Node:
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Adrenal insufficiency (HP:0000846)help
Parent Node:
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Central adrenal insufficiency (HP:0011734)help
..Starting node
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Adrenocorticotropin receptor defect (HP:0008259)help
Term ID: 8259
Name: Adrenocorticotropin receptor defect
Synonym: ACTH receptor defect; ACTHR defect; Adrenocorticotropic hormone-resistant adrenal insufficiency
Definition: Adrenal insufficiency secondary to a defect in the ACTH receptor.
Comments:
Reference: HP:0008259
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAdrenocorticotropin deficient adrenal insufficiency (HP:0011735) help
..expandCorticotropin-releasing hormone deficient adrenal insufficiency (HP:0011737) help
..expandCorticotropin-releasing hormone receptor defect (HP:0011738) 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:0008259HP:0008259Adrenocorticotropin receptor defect0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57


Genes (1) :AAAS

Diseases (1) :OMIM:231550
 

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