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:
Neoplasm of the anterior pituitary (HP:0011750)

Parent Node:
Pituitary adenoma (HP:0002893)

..Starting node
..Pituitary growth hormone cell adenoma (HP:0011760)

Term ID:

11760

Name:

Pituitary growth hormone cell adenoma

Synonym:

Pituitary somatotropinoma

Definition:

A type of pituitary adenoma that produces growth hormone.

Comments:

Reference:

HP:0011760

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pituitary acidophilic stem cell adenoma (HP:0011758)

Pituitary corticotropic cell adenoma (HP:0008291)

Pituitary gonadotropic cell adenoma (HP:0011759)

Pituitary null cell adenoma (HP:0011761)

Pituitary prolactin cell adenoma (HP:0006767)

Pituitary thyrotropic cell adenoma (HP:0011762)

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:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare	93
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare	5
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare	6
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare	148
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare	342
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040284 - Very rare	106
HP:0011760	HP:0011760	Pituitary growth hormone cell adenoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134

Genes (17) :AIP ALG5 ALG9 BICC1 CDKN1A CDKN1B CDKN2B CDKN2C DNAJB11 GANAB GPR101 IFT140 MEN1 PDE11A PKD1 PKD2 PRKAR1A

Diseases (7) :ORPHA:963 OMIM:102200 ORPHA:99725 ORPHA:730 ORPHA:652 ORPHA:276152 ORPHA:1359

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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