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 nasal bridge morphology (HP:0000422)

..Starting node
..Absent nasal bridge (HP:0005285)

Term ID:

5285

Name:

Absent nasal bridge

Synonym:

Absent bridge of nose; Absent nasal bridge; Agenesis of bridge of nose; Agenesis of nasal bridge; Missing bridge of nose; Missing nasal bridge

Definition:

Comments:

Reference:

HP:0005285

Genes and Diseases:

Child Nodes:

Sister Nodes:

Depressed nasal bridge (HP:0005280)

Hypoplastic nasal bridge (HP:0005281)

Narrow nasal bridge (HP:0000446)

Prominent nasal bridge (HP:0000426)

Short nasal bridge (HP:0003194)

Wide nasal bridge (HP:0000431)

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:0005285	HP:0005285	Absent nasal bridge	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0005285	HP:0005285	Absent nasal bridge	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0005285	HP:0005285	Absent nasal bridge	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly

Genes (2) :ACAN INTU

Diseases (3) :ORPHA:171866 OMIM:612813 OMIM:617925

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