Preferred Name |
Rigid spine syndrome |
Synonyms |
Rigid Spine Muscular Dystrophy 1 |
ID |
http://purl.bioontology.org/ontology/MESH/C535683 |
altLabel |
Rigid Spine Muscular Dystrophy 1 Desmin-related myopathies with Mallory bodies Multiminicore disease, severe classic form Myopathy, Sepn1-Related Muscular dystrophy, congenital, merosin positive with early spine rigidity Desmin-Related Myopathy With Mallory Bodies Multicore myopathy, severe classic form Rigid spine muscular dystrophy-1 Minicore myopathy, severe classic form Muscular Dystrophy, Congenital, Eichsfeld Type Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity |
cui |
C0410180 |
Has mapping qualifier | |
HM |
D012600 D059609/Q000473 D009136 |
Inverse of RB |
0 |
Mapped to |
http://purl.bioontology.org/ontology/MESH/D059609 |
MDA |
20100825 |
MeSH Frequency |
14 |
MMR |
20131106 |
notation |
C535683 |
prefLabel |
Rigid spine syndrome |
SC |
3 |
TERMUI |
T736879 T801850 T801847 T801846 T736880 T736874 T736876 T736881 T801844 T736878 T801849 T736873 |
TH |
ORD (2010) OMIM (2013) |
tui |
T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/606210 | Online Mendelian Inheritance in Man | CUI | |
http://purl.bioontology.org/ontology/OMIM/602771 | Online Mendelian Inheritance in Man | CUI |