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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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Transitional cell carcinoma of the pelvis and ureter
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Orphanet_598216 |
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Transitional cell carcinoma of the upper urinary tract
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Orphanet_598216 |
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Perivascular epithelioid cell neoplasm
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Orphanet_595133 |
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Neonatal ichthyosis-sclerosing cholangitis syndrome
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Orphanet_59303 |
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Incomplete septal cirrhosis
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Orphanet_596941 |
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Adrenal hypoplasia congenita
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Orphanet_595337 |
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KAT6B-related multiple congenital anomalies syndrome
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Orphanet_597749 |
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Acquired F8 deficiency
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Orphanet_599480 |
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Acquired F9 deficiency
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Orphanet_599485 |
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X-linked intellectual disability-hypotonia syndrome
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Orphanet_59 |
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IgG4-related systemic disease
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Orphanet_596448 |
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Portosinusoidal vascular disease
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Orphanet_596937 |
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Central core disease
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Orphanet_597 |
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GNAO1-related neurodevelopmental disorder
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Orphanet_592564 |
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Laing early-onset distal myopathy
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Orphanet_59135 |
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