Preferred Name | Lujan Fryns syndrome | |
Synonyms |
XLMR with Marfanoid Features Lujan-Fryns Syndrome Mental retardation, X-linked, with marfanoid habitus Lujan Syndrome Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies X-Linked Intellectual Deficit with Marfanoid Habitus X-Linked Mental Retardation with Marfanoid Habitus |
|
ID |
http://purl.bioontology.org/ontology/MESH/C537724 |
|
altLabel |
XLMR with Marfanoid Features Lujan-Fryns Syndrome Mental retardation, X-linked, with marfanoid habitus Lujan Syndrome Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies X-Linked Intellectual Deficit with Marfanoid Habitus X-Linked Mental Retardation with Marfanoid Habitus |
|
cui |
C0796022 |
|
HM |
D019465 D038901 D008382 |
|
Inverse of RB |
0 |
|
Mapped to |
http://purl.bioontology.org/ontology/MESH/D019465 |
|
MDA |
20100825 |
|
MeSH Frequency |
11 |
|
MMR |
20131024 |
|
notation |
C537724 |
|
prefLabel |
Lujan Fryns syndrome |
|
SC |
3 |
|
TERMUI |
T743543 T841934 T743541 T845952 T841935 T802147 T743542 T841933 |
|
TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
tui |
T047 |