Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Adrenal insufficiency (HP:0000846)

Parent Node:
Central adrenal insufficiency (HP:0011734)

..Starting node
..Corticotropin-releasing hormone receptor defect (HP:0011738)

Term ID:

11738

Name:

Corticotropin-releasing hormone receptor defect

Synonym:

Corticotropin-releasing hormone receptor (CRHR) resistance; CRHR defect

Definition:

Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.

Comments:

Reference:

HP:0011738

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenocorticotropin deficient adrenal insufficiency (HP:0011735)

Adrenocorticotropin receptor defect (HP:0008259)

Corticotropin-releasing hormone deficient adrenal insufficiency (HP:0011737)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011738	HP:0011738	Corticotropin-releasing hormone receptor defect	0	CL E G H

Genes (0) :

Diseases (0) :

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