loading...| Preferred Name |
Schinzel-Giedion syndrome |
|
| Synonyms |
Schinzel Giedion midface-retraction syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536632 |
|
| altLabel |
Schinzel Giedion midface-retraction syndrome Schinzel-Giedion Midface Retraction Syndrome Schinzel-Giedion Midface-Retraction Syndrome Schinzel Giedion syndrome |
|
| cui |
C0265227 |
|
| HM |
D019465 D009264 D000015 D006228 D008607 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D008607 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
21 |
|
| MMR |
20160929 |
|
| notation |
C536632 |
|
| prefLabel |
Schinzel-Giedion syndrome |
|
| SC |
3 |
|
| Scope Statement |
A congenital syndrome characterized by severe intellectual disability, distinctive facial features (FACIES), and multiple malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects. Affected individuals are also at higher risk for neoplasms, especially NEUROEPITHELIAL TUMORS. It is caused by mutations in the SET binding protein 1 (SETBP1) gene. OMIM: 269150 |
|
| TERMUI |
T739941 T800832 T739943 T842430 T739942 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |