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
Isolated mitochondrial neurosensory hearing loss Orphanet_90641
Mitochondrial non-syndromic neurosensory hearing loss Orphanet_90641
X-linked isolated neurosensory hearing loss type DFN Orphanet_90625
X-linked non-syndromic neurosensory hearing loss type DFN Orphanet_90625
Autosomal dominant non-syndromic neurosensory deafness type DFNA Orphanet_90635
Rare mitochondrial non-syndromic sensorineural deafness Orphanet_90641
Rare X-linked non-syndromic sensorineural deafness type DFN Orphanet_90625
Isolated mitochondrial sensorineural deafness Orphanet_90641
X-linked isolated sensorineural deafness type DFN Orphanet_90625
Isolated mitochondrial sensorineural hearing loss Orphanet_90641
Mitochondrial non-syndromic sensorineural hearing loss Orphanet_90641
X-linked isolated sensorineural hearing loss type DFN Orphanet_90625
X-linked non-syndromic sensorineural hearing loss type DFN Orphanet_90625
Hearing loss-hypogonadism syndrome Orphanet_90646
OPD I syndrome Orphanet_90650