Supernumerary nostril

Summary

Supernumerary nostril (MONDO:0015389) is a disease. A subtype of otorhinolaryngologic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 7

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		32	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

7 HPO clinical features (Orphanet curated; top 7 by frequency):

HPO ID	Term	Frequency
HP:0009934	Supernumerary naris	Obligate (100%)
HP:0000271	Abnormality of the face	Frequent (30-79%)
HP:0002006	Facial cleft	Occasional (5-29%)
HP:0000453	Choanal atresia	Very rare (<1-4%)
HP:0000482	Microcornea	Very rare (<1-4%)
HP:0000519	Developmental cataract	Very rare (<1-4%)
HP:3000040	Abnormality of ethmoid sinus	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	supernumerary nostril
Mondo ID	MONDO:0015389
Orphanet	141096
ICD-11	306735786
SNOMED CT	719163006
UMLS	C4021372
MedGen	867014
GARD	0019946
Is cancer (heuristic)	no

Also known as: accessory nostril · supernumerary naris

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of otorhinolaryngologic disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › otorhinolaryngologic disease › supernumerary nostril

Related subtypes (39): bifid nose, autoimmune disease of ear, nose and throat, nasal disorder, atresia of external auditory canal and conductive deafness, external auditory canal atresia-vertical talus-hypertelorism syndrome, laryngeal abductor paralysis, larynx atresia, congenital velopharyngeal incompetence, microtia, congenital tracheal stenosis, laryngeal neuroendocrine neoplasm, arrhinia, laryngotracheal angioma, epignathus, nasolacrimal duct cyst, polyrrhinia, proboscis lateralis, nasal glial heterotopia, nasal ganglioglioma, nasal encephalocele, isolated congenital syngnathia, cysts and fistulae of the face and oral cavity, isolated congenital nasal pyriform aperture stenosis, congenital nasal pyriform aperture stenosis with holoprosencephaly, middle ear anomaly, idiopathic bilateral vestibulopathy, mal de Debarquement, juvenile nasopharyngeal angiofibroma, tracheal agenesis, semicircular canal dehiscence syndrome, hereditary otorhinolaryngologic disease, supratip dysplasia, recurrent respiratory papillomatosis, silent sinus syndrome, anotia, congenital tracheomalacia, disorder of pharynx, disorder of ear, lip and oral cavity squamous cell carcinoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.