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created at |
2024-09-23 16:23:50 UTC |
updated at |
2024-09-23 18:22:39 UTC |
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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/
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20,514 entries
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There is 0 pattern entry.
AR-HIES due to ZNF341 deficiency
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Orphanet_641368 |
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CS due to cortisol-producing adrenocortical adenoma
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Orphanet_642788 |
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Bartonellosis due to infection with Bartonella bacilliformis
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Orphanet_64692 |
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Congenital insensitivity to pain and thermal analgesia
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Orphanet_64752 |
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Congenital insensitivity to pain with anhidrosis
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Orphanet_642 |
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Dermal sinus tract
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Orphanet_645188 |
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Primary pulmonary tuberculosis
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Orphanet_645814 |
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Primary musculoskeletal tuberculosis
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Orphanet_645822 |
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Primary cutaneous tuberculosis
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Orphanet_645849 |
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Primary skin tuberculosis
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Orphanet_645849 |
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Primary genito-urinary tuberculosis
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Orphanet_645874 |
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Perrault syndrome type 1
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Orphanet_642945 |
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Seemanova syndrome type 2
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Orphanet_647 |
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Perrault syndrome type 2
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Orphanet_642976 |
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Ataxia-oculomotor apraxia type 2
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Orphanet_64753 |
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