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
..Thick nasal septum (HP:0009746)

Term ID:

9746

Name:

Thick nasal septum

Synonym:

Broad nasal septum; Broad septum of nose; Thick nasal septum; Thick septum of nose; Wide nasal septum; Wide septum of nose

Definition:

Abnormally increased thickness of the nasal septum.

Comments:

Reference:

HP:0009746

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)

Prominent nasal septum (HP:0005322)

Short nasal septum (HP:0000420)

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:0009746	HP:0009746	Thick nasal septum	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65

Genes (1) :RPS6KA3

Diseases (1) :OMIM:303600

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