Preferred Name |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
Synonyms |
Stickler Syndrome, Atypical |
ID |
http://purl.bioontology.org/ontology/MESH/C563709 |
altLabel |
Stickler Syndrome, Atypical Stickler Syndrome, Type I, Predominantly Ocular |
cui |
C1836080 |
HM |
D015785 |
Inverse of RB |
0 |
Mapped to | |
MDA |
20121105 |
MeSH Frequency |
1 |
notation |
C563709 |
prefLabel |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
SC |
3 |
Scope Statement |
mutation in COL2A1 |
TERMUI |
T803426 T803427 T803425 |
TH |
OMIM (2013) |
tui |
T047 |