Abnormality of chromosome stability
Symptom Information:
Symptom ID: | HPO:0003220 | |||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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: |
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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) |