OMIM Find_IDs Find_Terms Annotation
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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
Label
Id
ATD3 613091
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY 613091
SRPS1 613091
SRPS2B 613091
SRPS3 613091
SRTD3 613091
SALDINO-NOONAN SYNDROME 613091
VERMA-NAUMOFF SYNDROME 613091
ASPHYXIATING THORACIC DYSTROPHY 3 613091
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I 613091
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III 613091
SHORT RIB-POLYDACTYLY SYNDROME, TYPE I 613091
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB 613091
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III 613091