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 morphology (HP:0005105)

Parent Node:
Midline defect of the nose (HP:0004122)

..Starting node
..Midline nasal groove (HP:0004112)

Term ID:

4112

Name:

Midline nasal groove

Synonym:

Central nasal groove; Midline nasal groove

Definition:

An abnormal groove on the midline of the nose that may extend to the nasal tip.

Comments:

Reference:

HP:0004112

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bifid nose (HP:0011803)

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:0004112	HP:0004112	Midline nasal groove	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0004112	HP:0004112	Midline nasal groove	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0004112	HP:0004112	Midline nasal groove	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0004112	HP:0004112	Midline nasal groove	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0004112	HP:0004112	Midline nasal groove	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80

Genes (4) :ALX3 FRAS1 FREM2 GRIP1

Diseases (3) :ORPHA:391474 ORPHA:2052 OMIM:219000

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