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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C562434
http://purl.bioontology.org/ontology/MESH/C562434
|
|---|---|
| Preferred Name | Cerebrooculofacioskeletal Syndrome 1 |
| Synonyms |
Pena-Shokeir Syndrome, Type II
Cofs Syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Pena-Shokeir Syndrome, Type II
Cofs Syndrome
|
|---|---|
| prefLabel |
Cerebrooculofacioskeletal Syndrome 1
|
| TH |
OMIM (2013)
|
| notation |
C562434
|
| MMR |
19550101
|
| MeSH Frequency |
12
|
| Semantic type UMLS property | |
| HM |
D003057
|
| Inverse of RB |
0
|
| MDA |
20121105
|
| SC |
3
|
| type | |
| Mapped to | |
| tui |
T047
|
| cui |
C0220722
|
| TERMUI |
T800688
T823575
T800690
|
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