loading...| Preferred Name |
Opitz-Kaveggia syndrome |
| Synonyms |
FGS1 |
| ID |
http://purl.bioontology.org/ontology/MESH/C537923 |
| altLabel |
FGS1 Mental Retardation, X-Linked, Cask-Related FG syndrome 2 Mental Retardation, X-Linked, With Nystagmus Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of the Corpus Callosum Keller syndrome FG syndrome 3 FG syndrome 4 FG syndrome |
| cui |
C0220769 C1845902 C1845546 C1845567 |
| Has mapping qualifier | |
| HM |
D038901 D061085 D009123/Q000151 D001006 D003248 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D001006 http://purl.bioontology.org/ontology/MESH/D038901 http://purl.bioontology.org/ontology/MESH/D009123 |
| MDA |
20100825 |
| MeSH Frequency |
10 |
| MMR |
20131024 |
| notation |
C537923 |
| prefLabel |
Opitz-Kaveggia syndrome |
| SC |
3 |
| Scope Statement |
Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum. |
| SRC |
Z Kinderheilkd. 117(1):1-18 |
| TERMUI |
T841437 T744181 T744185 T845893 T744183 T755444 T744180 T810727 T744177 T810726 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |