Abnormality of chromosome stability

Symptom Information:

Symptom ID: HPO:0003220
Synonyms:
Chromosome breakage [HPO:0003220]
High frequency of chromosome breaks in lymphocytes [HPO:0003220]
Increased chromosomal breakage [HPO:0003220]
Increased chromosomal breakage rate [HPO:0003220]
Increased chromosome breakage [HPO:0003220]
Multiple chromosomal breaks [HPO:0003220]
Tendency to chromosomal breakage [HPO:0003220]
Chromosome instability [Orphanet:52540]
Chromosomal Instability [Orphanet:52540]
Chromosome Breakage [Orphanet:52540]
Chromosome breakage [OMIM:Chromosome breakage]
High frequency of chromosome breaks in lymphocytes [OMIM:High frequency of chromosome breaks in lymphocytes]
Increased chromosomal breakage [OMIM:Increased chromosomal breakage]
Increased chromosomal breakage rate [OMIM:Increased chromosomal breakage rate]
Increased chromosome breakage [OMIM:Increased chromosome breakage]
Multiple chromosomal breaks [OMIM:Multiple chromosomal breaks]
Chromosome breakage [Orphanet:52540]
Chromosomal instability [OMIM:Chromosomal instability]
Chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division) [OMIM:Chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)]
Quality:
Cross references:
Orphanet:52540 "Chromosome breakage" [Orphanet:52540]
OMIM: "Chromosome breakage" [OMIM:Chromosome breakage]
OMIM: "High frequency of chromosome breaks in lymphocytes" [OMIM:High frequency of chromosome breaks in lymphocytes]
OMIM: "Increased chromosomal breakage" [OMIM:Increased chromosomal breakage]
OMIM: "Increased chromosomal breakage rate" [OMIM:Increased chromosomal breakage rate]
OMIM: "Increased chromosome breakage" [OMIM:Increased chromosome breakage]
OMIM: "Multiple chromosomal breaks" [OMIM:Multiple chromosomal breaks]
OMIM: "Chromosomal instability" [OMIM:Chromosomal instability]
OMIM: "Chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)" [OMIM:Chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)]
UMLS:C1257806 "Chromosomal Instability" [Orphanet:52540]
UMLS:C0376628 "Chromosome Breakage" [Orphanet:52540]
Is a (Direct Parents):
HPO         Chromosome breakage
HPO         Abnormality of cell physiology
Orphanet Cytogenetic abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of cell physiology(HPO:0011017)
             Abnormality of chromosome stability(HPO:0003220)
MedDRA:
Database Frequency: 98 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
14q11.2 microdeletion syndrome (Orphanet:261120)
14q12 microdeletion syndrome (Orphanet:261144)
14q22q23 microdeletion syndrome (Orphanet:264200)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
17q12 microdeletion syndrome (Orphanet:261265)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q44 microdeletion syndrome (Orphanet:238769)
20p12.3 microdeletion syndrome (Orphanet:261295)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3q29 microdeletion syndrome (Orphanet:65286)
4q21 microdeletion syndrome (Orphanet:238750)
5q14.3 microdeletion syndrome (Orphanet:228384)
6p22 microdeletion syndrome (Orphanet:251046)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
8q22.1 microdeletion syndrome (Orphanet:178303)
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH (OMIM:208910)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Angelman syndrome (Orphanet:72)
Aortic arch defects (Orphanet:1132)
Ataxia-telangiectasia (Orphanet:100)
Ataxia-telangiectasia-like disorder (Orphanet:251347)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Bloom syndrome (Orphanet:125)
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY (OMIM:215510)
CREST syndrome (Orphanet:90290)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cartilage-hair hypoplasia (Orphanet:175)
Conotruncal heart malformations (Orphanet:2445)
Deafness-infertility syndrome (Orphanet:94064)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 7q11.23 microdeletion syndrome (Orphanet:254351)
Distal monosomy 19p13.3 (Orphanet:96129)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP F (OMIM:603467)
FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP M (OMIM:614087)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Fragile X syndrome (Orphanet:908)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Genitopatellar syndrome (Orphanet:85201)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Hereditary neuropathy with liability to pressure palsies (Orphanet:640)
ICF syndrome (Orphanet:2268)
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (OMIM:600546)
Isolated Dandy-Walker malformation (Orphanet:217)
Isolated glycerol kinase deficiency (Orphanet:408)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Koolen-De Vries syndrome (Orphanet:96169)
LIG4 syndrome (Orphanet:99812)
Langer-Giedion syndrome (Orphanet:502)
Larynx atresia (Orphanet:1202)
Mosaic trisomy 15 (Orphanet:1706)
Multiple osteochondromas (Orphanet:321)
N syndrome (Orphanet:2608)
Nijmegen breakage syndrome (Orphanet:647)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Porokeratosis of Mibelli (Orphanet:735)
Prader-Willi syndrome (Orphanet:739)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Radio-renal syndrome (Orphanet:3015)
Recessive X-linked ichthyosis (Orphanet:461)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
Smith-Magenis syndrome (Orphanet:819)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Syndromic X-linked ichthyosis (Orphanet:281090)
Thrombocytopenia - absent radius (Orphanet:3320)
Transcobalamin deficiency (Orphanet:859)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)