Human Phenotype Ontology 
Grandparent Node:
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Abnormality of connective tissue (HP:0003549)help
Grandparent Node:
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Nevus (HP:0003764)help
Parent Node:
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Connective tissue nevi (HP:0100898)help
..Starting node
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Shagreen patch (HP:0009721)help
Term ID: 9721
Name: Shagreen patch
Synonym:
Definition: A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.
Comments:
Reference: HP:0009721
Genes and Diseases:
 
       Child Nodes:

 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:0009721HP:0009721Shagreen patch0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0009721HP:0009721Shagreen patch0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0009721HP:0009721Shagreen patch0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040282 - Frequent948
HP:0009721HP:0009721Shagreen patch0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0009721HP:0009721Shagreen patch0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional1090
HP:0009721HP:0009721Shagreen patch0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0009721HP:0009721Shagreen patch0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0009721HP:0009721Shagreen patch0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040283 - Occasional2738
HP:0009721HP:0009721Shagreen patch0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0009721HP:0009721Shagreen patch0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738


Genes (5) :IFNG PTEN SLC25A24 TSC1 TSC2

Diseases (6) :ORPHA:805 OMIM:613254 ORPHA:2969 ORPHA:2963 ORPHA:538 OMIM:191100
 

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