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
ARCI1 242300
ICR2 242300
SHCB 242300
COLLODION FETUS 242300
ICHTHYOSIS CONGENITA 242300
LI1, FORMERLY 242300
ICHTHYOSIS, LAMELLAR, 1, FORMERLY 242300
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 242300
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION 242300
ICHTHYOSIS CONGENITA II 242300
DESQUAMATION OF NEWBORN 242300
LAMELLAR EXFOLIATION OF NEWBORN 242300
COLLODION BABY, SELF-HEALING 242300