Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Regional abnormality of skin (HP:0011356)help
..Starting node
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Pretibial blistering (HP:0012221)help
Term ID: 12221
Name: Pretibial blistering
Synonym: Pretibial epidermolysis bullosa
Definition: A type of blistering that affects the skin of the tibial region.
Comments:
Reference: HP:0012221
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal dermatoglyphics (HP:0007477) help
..expandAbnormal skin morphology of the palm (HP:0040211) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandAbnormality of the plantar skin of foot (HP:0100872) help
..expandCutis gyrata of scalp (HP:0010541) help
..expandPalmoplantar pustulosis (HP:0100847) help
..expandPretibial myxedema (HP:0200028) help
..expandProminent digit pad (HP:0011298) help
..expandPterygium (HP:0001059) 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:0012221HP:0012221Pretibial blistering0CD151 CL E G H9771630OMIM:609057NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS1
HP:0012221HP:0012221Pretibial blistering0COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0012221HP:0012221Pretibial blistering0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040282 - Frequent263
HP:0012221HP:0012221Pretibial blistering0COL7A1 CL E G H12942214OMIM:131850Epidermolysis bullosa dystrophica, pretibial.263
HP:0012221HP:0012221Pretibial blistering0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040281 - Very frequent263
HP:0012221HP:0012221Pretibial blistering0KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythemaHP:0040283 - Occasional173


Genes (4) :CD151 COL2A1 COL7A1 KRT5

Diseases (6) :OMIM:609057 ORPHA:85198 ORPHA:89843 OMIM:131850 ORPHA:79410 ORPHA:158681
 

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