Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skin morphology (HP:0011121)help
Parent Node:
expand
Abnormality of the nail (HP:0001597)help
Parent Node:
expand
Regional abnormality of skin (HP:0011356)help
..Starting node
..expand
Abnormality of the periungual region (HP:0100803)help
Term ID: 100803
Name: Abnormality of the periungual region
Synonym:
Definition: An abnormality of the region around the nails of the fingers or toes.
Comments:
Reference: HP:0100803
Genes and Diseases:
 
       Child Nodes:
........expandParonychia (HP:0001818) help
........expandCircumungual hyperkeratosis (HP:0008399) help
........expandUngual fibroma (HP:0100804) help

 Sister Nodes: 
..expandAbnormal dermatoglyphics (HP:0007477) help
..expandAbnormal skin morphology of the palm (HP:0040211) help
..expandAbnormality of the plantar skin of foot (HP:0100872) help
..expandCutis gyrata of scalp (HP:0010541) help
..expandPalmoplantar pustulosis (HP:0100847) help
..expandPretibial blistering (HP:0012221) help
..expandPretibial myxedema (HP:0200028) help
..expandProminent digit pad (HP:0011298) help
..expandPterygium (HP:0001059) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100803HP:0100803Abnormality of the periungual region0NFKB2 CL E G H4791293978ORPHA13177795164012
HP:0100803HP:0100803Abnormality of the periungual region0NFKB2 CL E G H4791293978ORPHA12487795164012
HP:0100803HP:0001818Paronychia1NFKB2 CL E G H4791293978ORPHA13177795164012
HP:0100803HP:0100804Ungual fibroma1NFKB2 CL E G H4791293978ORPHA13177795164012
HP:0100803HP:0001818Paronychia1NFKB2 CL E G H4791293978ORPHA12487795164012
HP:0100803HP:0100804Ungual fibroma1NFKB2 CL E G H4791293978ORPHA12487795164012
HP:0100803HP:0008399Circumungual hyperkeratosis1NFKB2 CL E G H4791293978ORPHA13177795164012
HP:0100803HP:0033425Periungual erythema1NFKB2 CL E G H4791293978ORPHA13177795164012
HP:0100803HP:0008399Circumungual hyperkeratosis1NFKB2 CL E G H4791293978ORPHA12487795164012
HP:0100803HP:0033425Periungual erythema1NFKB2 CL E G H4791293978ORPHA12487795164012
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (13) :ADAM17 KIF1A LAMA3 LAMB3 LAMC2 NFKB2 RETREG1 SCN9A SLC39A4 STAT3 TSC1 TSC2 WNK1

Diseases (9) :293978 614328 201300 79404 37 201100 2314 805 538
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.