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 ionizing radiation (HP:0010997)help
Term ID: 10997
Name: Chromosomal breakage induced by ionizing radiation
Synonym: Chromosomal breakage induced by ionising radiation; Increased cellular radiosensitivity; Radiation-induced chromosome instability
Definition: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.
Comments:
Reference: HP:0010997
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChromosomal breakage induced by crosslinking agents (HP:0003221) 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:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040281 - Very frequent54
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040281 - Very frequent184
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040281 - Very frequent220
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040281 - Very frequent9
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040281 - Very frequent162
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0RAD50 CL E G H101119816OMIM:613078NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD789
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040281 - Very frequent7
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040281 - Very frequent87
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040281 - Very frequent47
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040281 - Very frequent22
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040281 - Very frequent124
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040281 - Very frequent238
HP:0010997HP:0010997Chromosomal breakage induced by ionizing radiation0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040281 - Very frequent


Genes (13) :AKT1 BAP1 NF2 PDGFB PIK3CA RAD50 RNF168 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (3) :ORPHA:2495 OMIM:613078 ORPHA:420741
 

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