Human Phenotype Ontology

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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:
Abnormality of the pituitary gland (HP:0012503)

Parent Node:
Abnormality of the anterior pituitary (HP:0011747)

..Starting node
..Ectopic anterior pituitary gland (HP:0012731)

Term ID:

12731

Name:

Ectopic anterior pituitary gland

Synonym:

Definition:

Abnormal anatomic location of the anterior pituitary gland.

Comments:

Reference:

HP:0012731

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior pituitary dysgenesis (HP:0010625)

Hyperpituitarism (HP:0010514)

Hypopituitarism (HP:0040075)

Neoplasm of the anterior pituitary (HP:0011750)

Pituitary calcification (HP:0010513)

Pituitary resistance to thyroid hormone (HP:0008227)

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:0012731	HP:0012731	Ectopic anterior pituitary gland	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	54
HP:0012731	HP:0012731	Ectopic anterior pituitary gland	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040284 - Very rare	24

Genes (8) :FOXA2 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1 SOX3

Diseases (2) :ORPHA:95494 ORPHA:90695

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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