Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cellular physiology (HP:0011017)help
Parent Node:
expandAbnormality of DNA repair (HP:0003254)help
..Starting node
..expandDefective interstrand cross-link repair (HP:0410166)help
Term ID: 410166
Name: Defective interstrand cross-link repair
Synonym:
Definition: A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.
Comments:
Reference: HP:0410166
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDefective DNA repair after ultraviolet radiation damage (HP:0003079) help
..expandDeficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213) 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:0410166HP:0410166Defective interstrand cross-link repair0 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.