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
..Enlarged naris (HP:0009931)

Term ID:

9931

Name:

Enlarged naris

Synonym:

Broad nostril; Dilated nares; Dilated nostril; Enlarged nares; Enlarged nostril; Increased diameter of nares; Increased diameter of nostril; Increased width of nares; Large nares; Naris, broad; Naris, enlarged; Wide nares; Wide nostril

Definition:

Increased aperture of the nostril.

Comments:

Reference:

HP:0009931

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent nares (HP:0100596)

Anteverted nares (HP:0000463)

Asymmetry of the nares (HP:0009930)

Narrow naris (HP:0009933)

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:0009931	HP:0009931	Enlarged naris	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0009931	HP:0009931	Enlarged naris	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0009931	HP:0009931	Enlarged naris	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0009931	HP:0009931	Enlarged naris	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0009931	HP:0009931	Enlarged naris	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0009931	HP:0009931	Enlarged naris	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23

Genes (5) :MKS1 NAA10 NALCN NSD1 UNC80

Diseases (5) :OMIM:249000 ORPHA:276432 OMIM:616266 ORPHA:371364 OMIM:117550

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

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