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
Weyers acrodental dysostosis Orphanet_952
Weyers acrofacial dysostosis Orphanet_952
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum Orphanet_95455
Acute adrenal failure Orphanet_95409
Split hand/split foot-mandibular hypoplasia syndrome Orphanet_958
Hypospadias, severe form Orphanet_95706
Carbohydrate deficient glycoprotein syndrome type IIh Orphanet_95428
Combined pituitary hormone deficiencies, genetic forms Orphanet_95494
Multiple pituitary hormone deficiencies, genetic forms Orphanet_95494
Non-acquired pituitary hormone deficiency Orphanet_95488
Acquired pituitary hormone deficiency Orphanet_95502
Congenital adrenal hyperplasia due to cytochrome POR deficiency Orphanet_95699
Anterior pituitary hypophysitis Orphanet_95512
Familial congenital hypopituitarism Orphanet_95494
X-linked adrenal hypoplasia congenita Orphanet_95702