Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of chromosome stability (HP:0003220)help
Parent Node:
expandChromosome breakage (HP:0040012)help
..Starting node
..expandChromosomal breakage induced by crosslinking agents (HP:0003221)help
Term ID: 3221
Name: Chromosomal breakage induced by crosslinking agents
Synonym: Chromosomal breakage induced by diepoxybutane; Chromosomal breakage induced by mitomycin C
Definition: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.
Comments:
Reference: HP:0003221
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChromosomal breakage induced by ionizing radiation (HP:0010997) help
..expandFolate-dependent fragile site at Xq28 (HP:0003564) 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:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0MAD2L2 CL E G H104596764OMIM:617243Fanconi anemia, complementation group V1
HP:0003221HP:0003221Chromosomal breakage induced by crosslinking agents0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349


Genes (12) :BRCA2 BRIP1 COX4I1 FANCA FANCC FANCD2 FANCE FANCF FANCI FANCL MAD2L2 PALB2

Diseases (12) :OMIM:605724 OMIM:609054 OMIM:619060 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:614083 OMIM:617243 OMIM:610832
 

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