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
Ulna and fibula absence of with severe limb deficiency C1848651
ulna and fibula absence of with severe limb deficiency C1848651
ulna and fibula, absence of, with severe limb deficiency C1848651
profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence C1848651
Severe limb deficit C1848651
severe limb deficit C1848651
Al Awadi Teebi Farag syndrome C1848651
Aplasia/hypoplasia of limbs and pelvis C1848651
aplasia/hypoplasia of limbs and pelvis C1848651
congenital absence of ulna and fibula C1848651
Al Awadi syndrome C1848651
Al Awadi-Raas-Rothschild syndrome C1848651
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome C1848651
Limb-Pelvis Hypoplasia-Aplasia syndrome C1848651
Schinzel phocomelia syndrome C1848651