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:
Abnormality of the posterior pituitary (HP:0011751)

Parent Node:
Posterior pituitary dysgenesis (HP:0011753)

..Starting node
..Posterior pituitary agenesis (HP:0011756)

Term ID:

11756

Name:

Posterior pituitary agenesis

Synonym:

Neurohypophysis agenesis

Definition:

Absence of the neurohypophysis owing to a developmental defect.

Comments:

Reference:

HP:0011756

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic posterior pituitary (HP:0011755)

Posterior pituitary hypoplasia (HP:0011757)

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:0011756	HP:0011756	Posterior pituitary agenesis	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	183
HP:0011756	HP:0011756	Posterior pituitary agenesis	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	2

Genes (2) :MTHFR VANGL2

Diseases (1) :ORPHA:563612

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