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:
Abnormally folded helix (HP:0008544)

Parent Node:
Overfolded helix (HP:0000396)

..Starting node
..Overfolding of the superior helices (HP:0004453)

Term ID:

4453

Name:

Overfolding of the superior helices

Synonym:

Overfolding of superior helix

Definition:

A condition in which the superior portion of the helix is folded over to a greater degree than normal.

Comments:

Reference:

HP:0004453

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004453	HP:0004453	Overfolding of the superior helices	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0004453	HP:0004453	Overfolding of the superior helices	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0004453	HP:0004453	Overfolding of the superior helices	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0004453	HP:0004453	Overfolding of the superior helices	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0004453	HP:0004453	Overfolding of the superior helices	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124

Genes (5) :BICRA FGFR2 GNAI3 PLCB4 SALL1

Diseases (5) :OMIM:619325 ORPHA:313855 OMIM:602483 OMIM:614669 OMIM:107480

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