Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nose (HP:0000366)help
Parent Node:
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Abnormal nasal bridge morphology (HP:0000422)help
..Starting node
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Hypoplastic nasal bridge (HP:0005281)help
Term ID: 5281
Name: Hypoplastic nasal bridge
Synonym: Decreased size of bridge of nose; Decreased size of nasal bridge; Hypoplastic bridge of nose; Hypotrophic bridge of nose; Hypotrophic nasal bridge; Small bridge of nose; Small nasal bridge
Definition:
Comments:
Reference: HP:0005281
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent nasal bridge (HP:0005285) help
..expandDepressed nasal bridge (HP:0005280) help
..expandNarrow nasal bridge (HP:0000446) help
..expandProminent nasal bridge (HP:0000426) help
..expandShort nasal bridge (HP:0003194) help
..expandWide nasal bridge (HP:0000431) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005281HP:0005281Hypoplastic nasal bridge0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0005281HP:0005281Hypoplastic nasal bridge0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040281 - Very frequent98
HP:0005281HP:0005281Hypoplastic nasal bridge0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3.196
HP:0005281HP:0005281Hypoplastic nasal bridge0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133


Genes (4) :DHCR24 GHR KRAS TRIP11

Diseases (4) :OMIM:602398 ORPHA:633 OMIM:609942 OMIM:200600
 

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