Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nose (HP:0000366)help
Parent Node:
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Abnormal nasal morphology (HP:0005105)help
..Starting node
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Slender nose (HP:0000417)help
Term ID: 417
Name: Slender nose
Synonym: Slender nose
Definition:
Comments:
Reference: HP:0000417
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnteverted nares (HP:0000463) help
..expandAplasia/Hypoplasia involving the nose (HP:0009924) help
..expandBulbous nose (HP:0000414) help
..expandFullness of paranasal tissue (HP:0012812) help
..expandLong nose (HP:0003189) help
..expandMidline defect of the nose (HP:0004122) help
..expandNarrow nose (HP:0000460) help
..expandPear-shaped nose (HP:0000447) help
..expandProboscis (HP:0012806) help
..expandProminent nose (HP:0000448) help
..expandPyriform aperture stenosis (HP:0025011) help
..expandShort nose (HP:0003196) help
..expandWide nose (HP:0000445) 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:0000417HP:0000417Slender nose0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000417HP:0000417Slender nose0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000417HP:0000417Slender nose0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000417HP:0000417Slender nose0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0000417HP:0000417Slender nose0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445


Genes (4) :ERCC6 ERCC8 NALCN RECQL4

Diseases (5) :OMIM:133540 OMIM:216400 OMIM:615419 OMIM:266280 ORPHA:221016
 

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