MedGen Find_IDs Find_Terms Annotation
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created at 2024-09-19 07:43:07 UTC
updated at 2024-09-23 18:19:38 UTC
MedGen CUI
Namespace: https://www.ncbi.nlm.nih.gov/medgen/
622,528 entries
Label
Id
ADMFD C3150649
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM C3150649
syndromic multisystem autoimmune disease C3150649
Syndromic multisystem autoimmune disease due to ITCH deficiency C3150649
syndromic multisystem autoimmune disease due to ITCH deficiency C3150649
Syndromic multisystem autoimmune disease due to Itch deficiency C3150649
autoimmune disease, multisystem, with facial dysmorphism C3150649
Autoimmune disease, syndromic multisystem C3150649
autoimmune disease, syndromic multisystem C3150649
ITCH E3 ubiquitin ligase deficiency C3150649