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
..Short nasal septum (HP:0000420)

Term ID:

420

Name:

Short nasal septum

Synonym:

Decreased length of nasal septum; Decreased length of septum of nose; Short nasal septum; Short septum of nose

Definition:

Reduced superior to inferior length of the nasal septum.

Comments:

Reference:

HP:0000420

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)

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:0000420	HP:0000420	Short nasal septum	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0000420	HP:0000420	Short nasal septum	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (2) :ARSL TFAP2A

Diseases (2) :OMIM:302950 OMIM:113620

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