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:
Aplasia/Hypoplasia involving the nose (HP:0009924)

..Starting node
..Aplasia of the nose (HP:0009927)

Term ID:

9927

Name:

Aplasia of the nose

Synonym:

Absent nose; Arrhinia; Failure of development of nose; Missing nose; Nasal underdevelopment; Underdevelopment of nose

Definition:

Complete absence of all nasal structures.

Comments:

Reference:

HP:0009927

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the nasal septum (HP:0009935)

Hypoplasia of the nasal bone (HP:0004646)

Underdeveloped nasal alae (HP:0000430)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009927	HP:0009927	Aplasia of the nose	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome	174
HP:0009927	HP:0009927	Aplasia of the nose	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13	1

Genes (2) :SMCHD1 STAG2

Diseases (2) :OMIM:603457 OMIM:301043

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