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 endocrine system (HP:0100568)

Parent Node:
Abnormality of the pituitary gland (HP:0012503)

Parent Node:
Neoplasm of the pituitary gland (HP:0040277)

..Starting node
..Prolactinoma (HP:0040278)

Term ID:

40278

Name:

Prolactinoma

Synonym:

Definition:

A benign tumor (adenoma) of the pituitary gland

Comments:

Reference:

HP:0040278

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neoplasm of the anterior pituitary (HP:0011750)

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:0040278	HP:0040278	Prolactinoma	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0040278	HP:0040278	Prolactinoma	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462

Genes (2) :AIP MEN1

Diseases (2) :OMIM:102200 OMIM:131100

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