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:
Abnormal nasal septum morphology (HP:0000419)

Grandparent Node:
Aplasia/Hypoplasia involving the nose (HP:0009924)

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

..Starting node
..Hypoplastic nasal septum (HP:0005104)

Term ID:

5104

Name:

Hypoplastic nasal septum

Synonym:

Decreased size of nasal septum; Decreased size of septum of nose; Hypoplasia of septum of nose; Small nasal septum; Small septum of nose

Definition:

Underdevelopment of the nasal septum.

Comments:

Reference:

HP:0005104

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent nasal septal cartilage (HP:0005273)

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:0005104	HP:0005104	Hypoplastic nasal septum	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0005104	HP:0005104	Hypoplastic nasal septum	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22

Genes (2) :FLNB NOG

Diseases (2) :OMIM:112310 OMIM:186500

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