Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Adrenocorticotropin deficient adrenal insufficiency (HP:0011735)

Term ID:

11735

Name:

Adrenocorticotropin deficient adrenal insufficiency

Synonym:

ACTH deficient adrenal insufficiency

Definition:

Adrenal insufficiency secondary to a defect in ACTH production.

Comments:

Reference:

HP:0011735

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenocorticotropin receptor defect (HP:0008259)

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

Corticotropin-releasing hormone receptor defect (HP:0011738)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011735	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0011735	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0011735	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0011735	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0011735	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0011735	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0011735	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040280 - Obligate	57

Genes (6) :AIP CDH23 MEN1 NFKB2 RBM28 TBX19

Diseases (5) :ORPHA:2965 ORPHA:91347 ORPHA:293978 ORPHA:157954 ORPHA:199296

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