loading...| Preferred Name |
Kleefstra Syndrome |
|
| Synonyms |
9q34.3 Deletion Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C563043 |
|
| altLabel |
9q34.3 Deletion Syndrome 9q- Syndrome 9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome Chromosome 9q34.3 Deletion Syndrome |
|
| cui |
C0795833 |
|
| HM |
D002872 D019465 D002899 D008607 D006330 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D002872 http://purl.bioontology.org/ontology/MESH/D002899 |
|
| MDA |
20121105 |
|
| MeSH Frequency |
58 |
|
| MMR |
20160929 |
|
| notation |
C563043 |
|
| prefLabel |
Kleefstra Syndrome |
|
| SC |
3 |
|
| Scope Statement |
Submicroscopic and subtelomeric deletions of the q region of chromosome 9 that result in severe intellectual disability, epilepsy, heart defects, BRACHYCEPHALY or MICROCEPHALY; MACROGLOSSIA and other craniofacial abnormalities. The symptoms are caused by deletion or mutation of the EHMT1 gene. OMIM: 610253 |
|
| TERMUI |
T802079 T841824 T841825 T802078 T802077 T802080 |
|
| TH |
OMIM (2013) GHR (2014) |
|
| tui |
T047 |