PubDictionaries

manager	jdkim
language	-
license	-
created at	2024-09-23 16:23:50 UTC
updated at	2024-09-23 18:22:39 UTC

Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/

20,514 entries

There is 0 pattern entry.

Label	Id

Hermansky-Pudlak syndrome due to AP-3 deficiency	Orphanet_183678
Hermansky-Pudlak syndrome with neutropenia	Orphanet_183678