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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.
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Superficial lymphangioma
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Orphanet_79490 |
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Pili gemini
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Orphanet_79492 |
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Pili multigemini
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Orphanet_79492 |
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Brooke-Spiegler syndrome
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Orphanet_79493 |
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DDOD syndrome
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Orphanet_79499 |
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Pseudohypoparathyroidism type 1A
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Orphanet_79443 |
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Pseudohypoparathyroidism type 1C
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Orphanet_79444 |
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Acrocephalosyndactyly type 3
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Orphanet_794 |
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Oculocutaneous albinism, Amish type
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Orphanet_79434 |
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Macias Flores-Garcia Cruz-Rivera syndrome
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Orphanet_79495 |
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PLEC-related intermediate EBS without extracutaneous involvement
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Orphanet_79401 |
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AHO-PHP syndrome Ia
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Orphanet_79443 |
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Intermediate generalized JEB
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Orphanet_79402 |
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Severe generalized JEB
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Orphanet_79404 |
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Severe generalized RDEB
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Orphanet_79408 |
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