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:
Abnormality of the adrenal glands (HP:0000834)

Parent Node:
Abnormality of adrenal morphology (HP:0011732)

..Starting node
..Adrenal hyperplasia (HP:0008221)

Term ID:

8221

Name:

Adrenal hyperplasia

Synonym:

Enlarged adrenal glands

Definition:

Enlargement of the adrenal gland.

Comments:

Reference:

HP:0008221

Genes and Diseases:

Child Nodes:

........

Macronodular adrenal hyperplasia (HP:0008231)

........

Congenital adrenal hyperplasia (HP:0008258)

Sister Nodes:

Adrenal calcification (HP:0010512)

Adrenal gland dysgenesis (HP:0008216)

Adrenal hypoplasia (HP:0000835)

Adrenocortical abnormality (HP:0000849)

Adrenocortical cytomegaly (HP:0008186)

Ectopic adrenal gland (HP:0011742)

Neoplasm of the adrenal gland (HP:0100631)

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:0008221	HP:0008221	Adrenal hyperplasia	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0008221	HP:0008221	Adrenal hyperplasia	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0008221	HP:0008221	Adrenal hyperplasia	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0008221	HP:0008221	Adrenal hyperplasia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0008221	HP:0008221	Adrenal hyperplasia	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	169
HP:0008221	HP:0008221	Adrenal hyperplasia	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	276
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040284 - Very rare	51
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	636
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional	44
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040281 - Very frequent	112
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism	.	112
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040281 - Very frequent	73
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.	53
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0008221	HP:0008221	Adrenal hyperplasia	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	86
HP:0008221	HP:0008221	Adrenal hyperplasia	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0008221	HP:0008221	Adrenal hyperplasia	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0008221	HP:0008221	Adrenal hyperplasia	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0008221	HP:0008221	Adrenal hyperplasia	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0008221	HP:0008221	Adrenal hyperplasia	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040281 - Very frequent	128
HP:0008221	HP:0008221	Adrenal hyperplasia	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	.	128
HP:0008221	HP:0008221	Adrenal hyperplasia	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	79
HP:0008221	HP:0008221	Adrenal hyperplasia	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent	79
HP:0008221	HP:0008221	Adrenal hyperplasia	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	13
HP:0008221	HP:0008221	Adrenal hyperplasia	0	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3	.	75
HP:0008221	HP:0008221	Adrenal hyperplasia	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	75
HP:0008221	HP:0008221	Adrenal hyperplasia	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0008221	HP:0008221	Adrenal hyperplasia	0	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase		76
HP:0008221	HP:0008221	Adrenal hyperplasia	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0008221	HP:0008221	Adrenal hyperplasia	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	2
HP:0008221	HP:0008221	Adrenal hyperplasia	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040281 - Very frequent	134
HP:0008221	HP:0008221	Adrenal hyperplasia	0	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia		45
HP:0008221	HP:0008221	Adrenal hyperplasia	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0008221	HP:0008221	Adrenal hyperplasia	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	911
HP:0008221	HP:0008221	Adrenal hyperplasia	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	1
HP:0008221	HP:0008221	Adrenal hyperplasia	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040281 - Very frequent	7
HP:0008221	HP:0008231	Macronodular adrenal hyperplasia	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0008221	HP:0008231	Macronodular adrenal hyperplasia	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040281 - Very frequent	7
HP:0008221	HP:0008258	Congenital adrenal hyperplasia	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0008221	HP:0008258	Congenital adrenal hyperplasia	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0008221	HP:0008231	Macronodular adrenal hyperplasia	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0008221	HP:0008231	Macronodular adrenal hyperplasia	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040281 - Very frequent	101
HP:0008221	HP:0008258	Congenital adrenal hyperplasia	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040281 - Very frequent	34
HP:0008221	HP:0008258	Congenital adrenal hyperplasia	1	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	.	76
HP:0008221	HP:0008258	Congenital adrenal hyperplasia	1	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia	.	45

Genes (26) :AIRE ARMC5 ATP6V1B2 ATRX BRAF CACNA1D CDH23 CLCN2 CYP11B1 CYP11B2 CYP17A1 CYP21A2 GNAS HSD3B2 KCNJ5 NR3C1 PDE11A PDE8B POR PRKACA PRKAR1A STAR TBC1D24 TP53 USP48 USP8

Diseases (25) :ORPHA:3453 OMIM:615954 ORPHA:189427 ORPHA:79500 ORPHA:96253 ORPHA:369929 ORPHA:404 OMIM:202010 ORPHA:403 OMIM:103900 OMIM:202110 ORPHA:90793 OMIM:201910 OMIM:219080 OMIM:201810 ORPHA:90791 ORPHA:251274 OMIM:613677 ORPHA:786 ORPHA:189439 OMIM:614190 ORPHA:95699 OMIM:613571 OMIM:615830 OMIM:201710

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

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