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 base norphology (HP:0012808)

..Starting node
..Narrow nasal base (HP:0012809)

Term ID:

12809

Name:

Narrow nasal base

Synonym:

Decreased width of base of nose; Decreased width of nasal base; Narrow base of nose; Narrow nasal base; Thin base of nose; Thin nasal base

Definition:

Decreased distance between the attachments of the alae nasi to the face.

Comments:

Reference:

HP:0012809

Genes and Diseases:

Child Nodes:

Sister Nodes:

Wide nasal base (HP:0012810)

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:0012809	HP:0012809	Narrow nasal base	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0012809	HP:0012809	Narrow nasal base	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012809	HP:0012809	Narrow nasal base	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6

Genes (3) :FIG4 METTL5 VAC14

Diseases (2) :ORPHA:3472 OMIM:618665

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