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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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Growth delay-intellectual disability-hepatopathy syndrome
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Orphanet_541423 |
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Biparietal Alzheimer disease
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Orphanet_54247 |
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Combined immunodeficiency due to CARMIL2 deficiency
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Orphanet_542301 |
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Combined immunodeficiency due to RLTPR deficiency
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Orphanet_542301 |
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RNF13-related severe early-onset epileptic encephalopathy
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Orphanet_544503 |
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Primary membranoproliferative glomerulonephritis
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Orphanet_54370 |
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Streptococcus pneumoniae-associated hemolytic uremic syndrome
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Orphanet_544493 |
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Left ventricular hypertrabeculation
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Orphanet_54260 |
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Familial hemophagocytic lymphohistiocytosis
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Orphanet_540 |
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Primary cutaneous lymphoma
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Orphanet_542 |
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Congenital primary megaureter, refluxing and obstructed form
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Orphanet_544578 |
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Left ventricular noncompaction
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Orphanet_54260 |
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X-linked recessive ocular albinism
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Orphanet_54 |
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Anomalous origin of coronary artery from the pulmonary artery
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Orphanet_541507 |
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Anomalous aortic origin of coronary artery
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Orphanet_541478 |
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