Preferred Name |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
Synonyms |
Thanatophoric Dysplasia, Luton Variant |
ID |
http://purl.bioontology.org/ontology/MESH/C563627 |
altLabel |
Thanatophoric Dysplasia, Luton Variant PLSD-TL Platyspondylic Skeletal Dysplasia, Torrance Type Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type Thanatophoric Dysplasia, Torrance Variant PLSD-T Platyspondylic Lethal Skeletal Dysplasia, Luton Type Platyspondylic Chondrodysplasia, Torrance-Luton Type |
cui |
C5703068 C1835437 |
HM |
D013796 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20121105 |
MeSH Frequency |
1 |
MMR |
20221102 |
notation |
C563627 |
prefLabel |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
SC |
3 |
TERMUI |
T803258 T842292 T844615 T803257 T803260 T844614 T803262 T803256 T842291 |
TH |
OMIM (2013) GHR (2014) |
tui |
T047 |