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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Short nasal bridge (HP:0003194)help
Term ID: 3194
Name: Short nasal bridge
Synonym: Decreased length of bridge of nose; Decreased length of nasal bridge; Short bridge of nose; Short nasal bridge
Definition: Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.
Comments:
Reference: HP:0003194
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent nasal bridge (HP:0005285) help
..expandDepressed nasal bridge (HP:0005280) help
..expandHypoplastic nasal bridge (HP:0005281) help
..expandNarrow nasal bridge (HP:0000446) help
..expandProminent nasal bridge (HP:0000426) 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:0003194HP:0003194Short nasal bridge0FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0003194HP:0003194Short nasal bridge0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0003194HP:0003194Short nasal bridge0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0003194HP:0003194Short nasal bridge0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180


Genes (4) :FGFR3 NOTCH3 NR2F1 POMGNT1

Diseases (4) :ORPHA:15 OMIM:130720 ORPHA:401777 OMIM:253280
 

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