Human Phenotype Ontology 
Grandparent Node:
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Abnormal nasal bone morphology (HP:0010939)help
Parent Node:
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Aplasia/Hypoplasia involving the nose (HP:0009924)help
Parent Node:
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Aplasia/Hypoplasia of the nasal bone (HP:0010940)help
..Starting node
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Hypoplasia of the nasal bone (HP:0004646)help
Term ID: 4646
Name: Hypoplasia of the nasal bone
Synonym: Decreased size of nasal bone; Deficiency of nasal bone; Hypotrophic nasal bone; Nasal bone hypoplasia; Small nasal bone; Underdevelopment of nasal bone
Definition: Underdevelopment of the nasal bone.
Comments:
Reference: HP:0004646
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia of the nasal bone (HP:0010941) 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:0004646HP:0004646Hypoplasia of the nasal bone0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0004646HP:0004646Hypoplasia of the nasal bone0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0004646HP:0004646Hypoplasia of the nasal bone0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0004646HP:0004646Hypoplasia of the nasal bone0USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG.78


Genes (4) :PDE4D PRKAR1A TONSL USH1G

Diseases (3) :ORPHA:280651 ORPHA:93357 OMIM:606943
 

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