Human Phenotype Ontology

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:
Abnormal sella turcica morphology (HP:0002679)

Parent Node:
Deformed sella turcica (HP:0002681)

..Starting node
..Elongated sella turcica (HP:0005463)

Term ID:

5463

Name:

Elongated sella turcica

Synonym:

Definition:

Comments:

Reference:

HP:0005463

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bridged sella turcica (HP:0005449)

Flat sella turcica (HP:0100857)

J-shaped sella turcica (HP:0002680)

Shoe-shaped sella turcica (HP:0005723)

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:0005463	HP:0005463	Elongated sella turcica	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138

Genes (1) :NOTCH2

Diseases (1) :OMIM:102500

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