Human Phenotype Ontology 
Grandparent Node:
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Localized skin lesion (HP:0011355)help
Parent Node:
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Abnormality of the plantar skin of foot (HP:0100872)help
Parent Node:
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Skin pit (HP:0100276)help
..Starting node
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Plantar pits (HP:0010612)help
Term ID: 10612
Name: Plantar pits
Synonym:
Definition: The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.
Comments:
Reference: HP:0010612
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDigital pitting scar (HP:0031293) help
..expandLip pit (HP:0100267) help
..expandPalmar pits (HP:0010610) help
..expandPeriauricular skin pits (HP:0100277) 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:0010612HP:0010612Plantar pits0ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040282 - Frequent86
HP:0010612HP:0010612Plantar pits0ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0010612HP:0010612Plantar pits0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0010612HP:0010612Plantar pits0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040281 - Very frequent665
HP:0010612HP:0010612Plantar pits0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0010612HP:0010612Plantar pits0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0010612HP:0010612Plantar pits0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040281 - Very frequent40
HP:0010612HP:0010612Plantar pits0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0010612HP:0010612Plantar pits0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040281 - Very frequent124


Genes (4) :ATP2A2 PTCH1 PTCH2 SUFU

Diseases (5) :ORPHA:218 OMIM:124200 OMIM:109400 ORPHA:377 ORPHA:77301
 

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