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
..Absent nares (HP:0100596)

Term ID:

100596

Name:

Absent nares

Synonym:

Abouphalia; Aplasia of the nares; Aplasia/Hypoplasia of the nares; Missing nostrils

Definition:

The nostrils (the paired channels of the nose) are not present.

Comments:

Reference:

HP:0100596

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteverted nares (HP:0000463)

Asymmetry of the nares (HP:0009930)

Enlarged naris (HP:0009931)

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:0100596	HP:0100596	Absent nares	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0100596	HP:0100596	Absent nares	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0100596	HP:0100596	Absent nares	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174

Genes (3) :OTX2 PRRX1 SMCHD1

Diseases (2) :ORPHA:990 ORPHA:2250

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