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
Renal dysplasia, unilateral Orphanet_93172
Atypical hemolytic uremic syndrome with anti-factor H antibodies Orphanet_93581
Renal or urinary tract malformation Orphanet_93545
Posterior urethral valve Orphanet_93110
Middle interhemispheric variant of holoprosencephaly Orphanet_93926
Midline interhemispheric variant of holoprosencephaly Orphanet_93926
Atypical HUS with anti-factor H antibodies Orphanet_93581
Primary osteodysplasia with decreased bone density Orphanet_93446
Primary osteodysplasia with defective bone mineralization Orphanet_93447
Primary osteodysplasia with increased bone density Orphanet_93444
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Orphanet_93360
Spondyloepimetaphyseal dysplasia with joint laxity type 2 Orphanet_93360
Postaxial syndactyly with metacarpal synostosis Orphanet_93406
Primary osteodysplasia with multiple joint dislocations Orphanet_93441
Chromosomal disease with overgrowth Orphanet_93461