ORDO Find_IDs Find_Terms Annotation
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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
Label
Id
Short stature due to growth hormone resistance Orphanet_633
Isolated proximal femoral focal deficiency Orphanet_633228
Complete growth hormone insensitivity Orphanet_633
Primary growth hormone insensitivity Orphanet_633
Primary growth hormone resistance Orphanet_633
Invasive scopulariopsis infection Orphanet_633124
Primary GH insensitivity Orphanet_633
Split cord malformation type 1.5 Orphanet_633076
Split cord malformation, composite type Orphanet_633076
Split cord malformation, intermediate type Orphanet_633076
Split cord malformation, mixed type Orphanet_633076
Isolated congenital proximal femoral deficiency Orphanet_633228
Growth hormone receptor deficiency Orphanet_633
Primary GH resistance Orphanet_633
CPE-related Prader-Willi-like syndrome Orphanet_633028