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 null cell adenoma (HP:0011761)

Term ID:

11761

Name:

Pituitary null cell adenoma

Synonym:

Clinically silent pituitary adenoma; Hormonally silent pituitary adenoma; Non-functional pituitary adenoma; Silent pituitary adenoma

Definition:

A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.

Comments:

Reference:

HP:0011761

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 growth hormone cell adenoma (HP:0011760)

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:0011761	HP:0011761	Pituitary null cell adenoma	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0011761	HP:0011761	Pituitary null cell adenoma	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0011761	HP:0011761	Pituitary null cell adenoma	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0011761	HP:0011761	Pituitary null cell adenoma	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0011761	HP:0011761	Pituitary null cell adenoma	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0011761	HP:0011761	Pituitary null cell adenoma	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462

Genes (5) :CDKN1A CDKN1B CDKN2B CDKN2C MEN1

Diseases (2) :ORPHA:652 ORPHA:276152

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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