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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.
HLRCC
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Orphanet_523 |
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MCUL
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Orphanet_523 |
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Hereditary leiomyomatosis
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Orphanet_523 |
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Reed syndrome
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Orphanet_523 |
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Pediatric-onset glaucoma
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Orphanet_523000 |
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DDON syndrome
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Orphanet_52368 |
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Mohr-Tranebjaerg syndrome
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Orphanet_52368 |
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Familial leiomyomatosis and renal cell cancer
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Orphanet_523 |
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Hereditary leiomyomatosis and renal cell cancer
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Orphanet_523 |
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Multiple cutaneous and uterine leiomyomas
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Orphanet_523 |
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Familial multiple cutaneous leiomyomas
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Orphanet_523 |
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Hereditary multiple cutaneous leiomyomas
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Orphanet_523 |
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Familial leiomyomatosis cutis et uteri
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Orphanet_523 |
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Hearing loss-dystonia-optic neuronopathy syndrome
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Orphanet_52368 |
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Deafness-dystonia-optic neuronopathy syndrome
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Orphanet_52368 |
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