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 anterior pituitary (HP:0011747)

Parent Node:
Anterior pituitary dysgenesis (HP:0010625)

..Starting node
..Anterior pituitary agenesis (HP:0010626)

Term ID:

10626

Name:

Anterior pituitary agenesis

Synonym:

Absent pituitary gland; Aplasia of the pituitary gland

Definition:

Absence of the anterior pituitary gland resulting from a developmental defect.

Comments:

Reference:

HP:0010626

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior pituitary hypoplasia (HP:0010627)

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:0010626	HP:0010626	Anterior pituitary agenesis	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0010626	HP:0010626	Anterior pituitary agenesis	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32

Genes (9) :FOXA2 GATA6 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1 SIX3

Diseases (4) :ORPHA:95494 ORPHA:2255 OMIM:610829 OMIM:157170

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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