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 hypoplasia (HP:0011757)

Term ID:

11757

Name:

Posterior pituitary hypoplasia

Synonym:

Neurohypophysis hypoplasia

Definition:

Underdevelopment of the neurohypophysis.

Comments:

Reference:

HP:0011757

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic posterior pituitary (HP:0011755)

Posterior pituitary agenesis (HP:0011756)

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:0011757	HP:0011757	Posterior pituitary hypoplasia	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0011757	HP:0011757	Posterior pituitary hypoplasia	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0011757	HP:0011757	Posterior pituitary hypoplasia	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41

Genes (2) :DYRK1A OTX2

Diseases (3) :ORPHA:268261 ORPHA:464311 OMIM:613986

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