| manager |
|
| language |
- |
| license |
- |
| created at |
2024-09-23 05:55:30 UTC |
| updated at |
2024-09-23 18:21:54 UTC |
|
The OMIM entries, compiled in the following way.
1. The original entries were downloaded from BioPortal, on Sep. 23, 2024.
2. Only the original OMIM entries were extracted, which excluded the STY and MTHU entries.
Namespace for Semantic Web: http://purl.bioontology.org/ontology/OMIM/
Namespace for the OMIM web pages: https://www.omim.org/entry/
|
116,330 entries
|
There is 0 pattern entry.
|
RUVALCABA-MYHRE-SMITH SYNDROME
|
158350 |
|
|
COWDEN SYNDROME 1
|
158350 |
|
|
MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
|
158350 |
|
|
CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY
|
158350 |
|
|
MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA
|
158350 |
|
|
DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM
|
158350 |
|
|
MULTIPLE HAMARTOMA SYNDROME
|
158350 |
|
|
PTEN HAMARTOMA TUMOR SYNDROME
|
158350 |
|
|
PTEN HAMARTOMA TUMOR SYNDROME WITH GRANULAR CELL TUMOR
|
158350 |
|
|
CEREBELLOPARENCHYMAL DISORDER VI
|
158350 |
|
