Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Parent Node:
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Abnormality of skin morphology (HP:0011121)help
..Starting node
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Elevated dermal desmosine content (HP:0025083)help
Term ID: 25083
Name: Elevated dermal desmosine content
Synonym:
Definition: An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.
Comments:
Reference: HP:0025083
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal blistering of the skin (HP:0008066) help
..expandAbnormal cutaneous collagen fibril morphology (HP:0031512) help
..expandAbnormal cutaneous elastic fiber morphology (HP:0025082) help
..expandAbnormal dermoepidermal junction morphology (HP:0031538) help
..expandAbnormal elasticity of skin (HP:0010647) help
..expandAbnormal epidermal morphology (HP:0011124) help
..expandAbnormality of skin pigmentation (HP:0001000) help
..expandDermal translucency (HP:0010648) help
..expandDry skin (HP:0000958) help
..expandGeneralized abnormality of skin (HP:0011354) help
..expandLichenification (HP:0100725) help
..expandLocalized skin lesion (HP:0011355) help
..expandOchronosis (HP:0030764) help
..expandPallor (HP:0000980) help
..expandPoikiloderma (HP:0001029) help
..expandRegional abnormality of skin (HP:0011356) help
..expandStiff skin (HP:0030053) help
..expandThickened skin (HP:0001072) 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:0025083HP:0025083Elevated dermal desmosine content0 CL E G H


Genes (0) :

Diseases (0) :
 

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