Human Phenotype Ontology 
..Starting node
..expandPretibial dimple (HP:0032538)help
Term ID: 32538
Name: Pretibial dimple
Synonym:
Definition: A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.
Comments:
Reference: HP:0032538
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032538HP:0032538Pretibial dimple0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109


Genes (1) :SOX9

Diseases (1) :OMIM:114290
 

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