Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..J-shaped sella turcica (HP:0002680)

Term ID:

2680

Name:

J-shaped sella turcica

Synonym:

Hour glass shaped hypophysial fossa; Hour glass shaped pituitary fossa; Hour glass shaped sella turcica; J-shaped hypophysial fossa; J-shaped pituitary fossa; J-shaped sella; Omega shaped hypophysial fossa; Omega shaped pituitary fossa; Omega shaped sella turcica

Definition:

A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.

Comments:

Reference:

HP:0002680

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bridged sella turcica (HP:0005449)

Elongated sella turcica (HP:0005463)

Flat sella turcica (HP:0100857)

Shoe-shaped sella turcica (HP:0005723)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002680	HP:0002680	J-shaped sella turcica	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0002680	HP:0002680	J-shaped sella turcica	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.		240
HP:0002680	HP:0002680	J-shaped sella turcica	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002680	HP:0002680	J-shaped sella turcica	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0002680	HP:0002680	J-shaped sella turcica	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0002680	HP:0002680	J-shaped sella turcica	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002680	HP:0002680	J-shaped sella turcica	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0002680	HP:0002680	J-shaped sella turcica	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0002680	HP:0002680	J-shaped sella turcica	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.		37
HP:0002680	HP:0002680	J-shaped sella turcica	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0002680	HP:0002680	J-shaped sella turcica	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0002680	HP:0002680	J-shaped sella turcica	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent		78
HP:0002680	HP:0002680	J-shaped sella turcica	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1

Genes (12) :ADAMTSL2 GNPTAB GUSB IDUA MAF MTX2 OBSL1 PLOD3 RMRP SLC17A5 TRIM37 VPS33A

Diseases (13) :OMIM:231050 OMIM:252600 OMIM:253220 OMIM:607014 ORPHA:1272 OMIM:619127 OMIM:612921 OMIM:612394 OMIM:607095 OMIM:269920 OMIM:253250 ORPHA:2576 OMIM:617303

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen