Preferred Name |
Distal arthrogryposis type 2B |
Synonyms |
Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities |
ID |
http://purl.bioontology.org/ontology/MESH/C538400 |
altLabel |
Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities Arthrogryposis multiplex congenita type 2B Sheldon-Hall syndrome Arthrogryposis, distal, type 2b Freeman-Sheldon Syndrome Variant Arthrogryposis multiplex congenita, distal, type 2b |
cui |
C1834523 |
HM |
D001176 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20101113 |
MeSH Frequency |
5 |
MMR |
20120824 |
notation |
C538400 |
prefLabel |
Distal arthrogryposis type 2B |
SC |
3 |
TERMUI |
T828178 T735873 T745697 T735874 T803112 T745698 T828177 |
TH |
NLM (2010) ORD (2010) OMIM (2013) |
tui |
T047 |