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 external nose morphology (HP:0010938)

Parent Node:
Abnormal morphology of the nasal alae (HP:0000429)

..Starting node
..Cleft ala nasi (HP:0003191)

Term ID:

3191

Name:

Cleft ala nasi

Synonym:

Ala nasi, cleft; Alar clefts; Cleft nasal alae; Cleft nostril; Nostril coloboma; Notched nasal alae

Definition:

The presence of a notch in the margin of the ala nasi.

Comments:

Reference:

HP:0003191

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteverted nares (HP:0000463)

Cartilaginous ossification of nose (HP:0005275)

Flared nostrils (HP:0000454)

Flat nasal alae (HP:0010649)

Thick nasal alae (HP:0009928)

Underdeveloped nasal alae (HP:0000430)

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:0003191	HP:0003191	Cleft ala nasi	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0003191	HP:0003191	Cleft ala nasi	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0003191	HP:0003191	Cleft ala nasi	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0003191	HP:0003191	Cleft ala nasi	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0003191	HP:0003191	Cleft ala nasi	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0003191	HP:0003191	Cleft ala nasi	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20

Genes (5) :ALX4 FRAS1 FREM2 GRIP1 PORCN

Diseases (4) :OMIM:613451 ORPHA:2052 OMIM:219000 OMIM:305600

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