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
Squamous cell carcinoma of salivary glands Orphanet_500481
Squamous cell carcinoma of the nasal cavity and sinuses Orphanet_500464
Squamous cell carcinoma of the oropharynx Orphanet_500478
Chromosome 16p13.2 deletion syndrome Orphanet_500055
SIN3A-related intellectual disability syndrome Orphanet_500163
Tall stature-intellectual disability-renal anomalies syndrome Orphanet_500095
Hao-Fountain syndrome due to 16p13.2 microdeletion Orphanet_500055
Osteosclerotic metaphyseal dysplasia Orphanet_500548
Infantile-onset periodic fever-panniculitis-dermatosis syndrome Orphanet_500062
Familial multiple lentigines syndrome Orphanet_500
OTULIN-related autoinflammatory syndrome Orphanet_500062
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome Orphanet_500533
Noonan syndrome with multiple lentigines Orphanet_500