Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Localized skin lesion (HP:0011355)help
..Starting node
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Skin fissure (HP:0031057)help
Term ID: 31057
Name: Skin fissure
Synonym: Cracked skin
Definition: A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.
Comments:
Reference: HP:0031057
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin tags (HP:0010609) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) 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:0031057HP:0031057Skin fissure0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0031057HP:0031057Skin fissure0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0031057HP:0031057Skin fissure0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0031057HP:0031057Skin fissure0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151


Genes (4) :GJA1 MBTPS2 PERP TRPV3

Diseases (2) :ORPHA:1010 ORPHA:659
 

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