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 nostril morphology (HP:0005288)

..Starting node
..Narrow naris (HP:0009933)

Term ID:

9933

Name:

Narrow naris

Synonym:

Collapsed nostrils; Naris, narrow; Naris, slit-like; Narrow nares; Narrow nostrils; Slit-like nostrils; Small nostrils; Thin nares; Thin nostrils

Definition:

Slender, slit-like aperture of the nostril.

Comments:

Reference:

HP:0009933

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent nares (HP:0100596)

Anteverted nares (HP:0000463)

Asymmetry of the nares (HP:0009930)

Enlarged naris (HP:0009931)

Single naris (HP:0009932)

Supernumerary naris (HP:0009934)

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:0009933	HP:0009933	Narrow naris	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0009933	HP:0009933	Narrow naris	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0009933	HP:0009933	Narrow naris	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0009933	HP:0009933	Narrow naris	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0009933	HP:0009933	Narrow naris	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13

Genes (5) :ATP6V1A ATP6V1E1 ESCO2 KCNJ6 MEGF8

Diseases (5) :OMIM:617403 OMIM:617402 OMIM:268300 ORPHA:435628 OMIM:614976

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