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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.
Early-onset AID due to HA20
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Orphanet_674762 |
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Serous maculopathy due to aspecific choroidopathy
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Orphanet_674958 |
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Congenital hypomelanotic freckle
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Orphanet_674935 |
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Non-syndromic congenital functional defect of phagocytes
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Orphanet_674896 |
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Non-syndromic constitutional functional phagocyte defect
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Orphanet_674896 |
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Paraneoplastic uveal melanocytic hyperplasia
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Orphanet_674968 |
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Solitary hypopigmented nevus of the retinal pigment epithelium
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Orphanet_674935 |
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Non-syndromic congenital phagocyte functional defect
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Orphanet_674896 |
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Isolated retinal racemose hemangioma
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Orphanet_674924 |
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Paramacular albinotic spot syndrome
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Orphanet_674935 |
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Isolated angioid streaks
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Orphanet_674943 |
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Diffuse unilateral subacute neuroretinitis
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Orphanet_674947 |
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Unilateral wipe-out syndrome
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Orphanet_674947 |
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Early-onset autoinflammatory syndrome associated with TNFAIP3
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Orphanet_674762 |
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Actinomyopathy-associated syndromic thrombocytopenia
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Orphanet_674653 |
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