Preferred Name |
Thanatophoric Dysplasia, Type I |
|
Synonyms |
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type |
|
ID |
http://purl.bioontology.org/ontology/MESH/C566844 |
|
altLabel |
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type Platyspondylic Lethal Skeletal Dysplasia, San Diego Type |
|
cui |
C1868678 |
|
Has mapping qualifier | ||
HM |
D013796 D051498/Q000172 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20121105 |
|
MeSH Frequency |
20 |
|
MMR |
20140602 |
|
notation |
C566844 |
|
prefLabel |
Thanatophoric Dysplasia, Type I |
|
SC |
3 |
|
Scope Statement |
aka TD1; mutations in FGFR3 |
|
TERMUI |
T809235 T809237 T809236 |
|
TH |
OMIM (2013) ORD (2010) |
|
tui |
T047 |
Create mapping