Human Phenotype Ontology 
Grandparent Node:
expandAbnormal external nose morphology (HP:0010938)help
Parent Node:
expandAbnormal nasal tip morphology (HP:0000436)help
..Starting node
..expandHypoplastic nasal tip (HP:0005278)help
Term ID: 5278
Name: Hypoplastic nasal tip
Synonym: Aplasia of nasal tip; Decreased size of nasal tip; Decreased size of tip of nose; Deficient nasal tip; Hypoplasia of tip of nose; Hypotrophic nasal tip; Hypotrophic tip of nose; Small nasal tip; Small tip of nose; Underdevelopment of nasal tip; Underdevelopment of tip of nose
Definition:
Comments:
Reference: HP:0005278
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBifid nasal tip (HP:0000456) help
..expandBroad nasal tip (HP:0000455) help
..expandBulbous nose (HP:0000414) help
..expandDepressed nasal tip (HP:0000437) help
..expandDeviated nasal tip (HP:0011831) help
..expandDimple on nasal tip (HP:0004132) help
..expandNarrow nasal tip (HP:0011832) help
..expandOverhanging nasal tip (HP:0011833) help
..expandProminent nasal tip (HP:0005274) help
..expandTriangular nasal tip (HP:0000451) 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:0005278HP:0005278Hypoplastic nasal tip0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0005278HP:0005278Hypoplastic nasal tip0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11


Genes (2) :EFNB1 MAP3K7

Diseases (2) :OMIM:304110 OMIM:157800
 

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