Preferred Name |
Cranioectodermal Dysplasia |
Synonyms |
Sensenbrenner Syndrome |
ID |
http://purl.bioontology.org/ontology/MESH/C562966 |
altLabel |
Sensenbrenner Syndrome Levin Syndrome I |
cui |
C0432235 |
Has mapping qualifier | |
HM |
D004476 D003398 D001842/Q000002 |
Inverse of RB |
0 |
Mapped to |
http://purl.bioontology.org/ontology/MESH/D004476 |
MDA |
20121105 |
MeSH Frequency |
29 |
MMR |
20131106 |
notation |
C562966 |
prefLabel |
Cranioectodermal Dysplasia |
SC |
3 |
Scope Statement |
mutation in IFT122 |
TERMUI |
T801918 T801919 T801920 |
TH |
OMIM (2013) |
tui |
T047 |