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
CASR 601199
PCAR1 601199
CALCIUM-SENSING RECEPTOR 601199
CASR POLYMORPHISM 601199
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 601199
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME 601199
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I 601199
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 601199
PARATHYROID CA(2+)-SENSING RECEPTOR 1 601199
HYPERPARATHYROIDISM, NEONATAL SEVERE 601199