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
..Deviated nasal septum (HP:0004411)

Term ID:

4411

Name:

Deviated nasal septum

Synonym:

Crooked nasal septum; Crooked septum of nose; Deviated nasal septum; Deviated septum of nose

Definition:

Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.

Comments:

Reference:

HP:0004411

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality nasal septum cartilage morphology (HP:3000034)

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

Narrow nasal septum (HP:0009936)

Prominent nasal septum (HP:0005322)

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:0004411	HP:0004411	Deviated nasal septum	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0004411	HP:0004411	Deviated nasal septum	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0004411	HP:0004411	Deviated nasal septum	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0004411	HP:0004411	Deviated nasal septum	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0004411	HP:0004411	Deviated nasal septum	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0004411	HP:0004411	Deviated nasal septum	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641

Genes (6) :CREBBP EP300 EXOSC5 NF1 NONO PAH

Diseases (5) :OMIM:180849 OMIM:619576 ORPHA:139474 OMIM:300967 ORPHA:2209

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