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 nose (HP:0000366)

Parent Node:
Abnormal nasal septum morphology (HP:0000419)

..Starting node
..Prominent nasal septum (HP:0005322)

Term ID:

5322

Name:

Prominent nasal septum

Synonym:

Low hanging nasal septum; Low hanging septum of nose; Prominent nasal septum; Prominent septum of nose; Visible nasal septum; Visible septum of nose

Definition:

Comments:

Reference:

HP:0005322

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality nasal septum cartilage morphology (HP:3000034)

Aplasia/Hypoplasia of the nasal septum (HP:0009935)

Deviated nasal septum (HP:0004411)

Narrow nasal septum (HP:0009936)

Short nasal septum (HP:0000420)

Thick nasal septum (HP:0009746)

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:0005322	HP:0005322	Prominent nasal septum	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0005322	HP:0005322	Prominent nasal septum	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0005322	HP:0005322	Prominent nasal septum	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250

Genes (3) :ATP6V1B2 CREBBP EP300

Diseases (3) :OMIM:616455 ORPHA:353277 ORPHA:353284

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