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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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Combined immunodeficiency due to Moesin deficiency
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Orphanet_504530 |
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Combined immunodeficiency due to RELA haploinsufficiency
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Orphanet_596759 |
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Combined immunodeficiency due to RLTPR deficiency
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Orphanet_542301 |
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SATB2-associated syndrome due to a pathogenic variant
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Orphanet_576283 |
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SATB2-associated syndrome due to a point mutation
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Orphanet_576283 |
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Male infertility due to acephalic spermatozoa
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Orphanet_529970 |
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Spastic ataxia-dysarthria due to glutaminase deficiency
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Orphanet_557056 |
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FOXG1 syndrome due to intragenic alteration
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Orphanet_598164 |
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Rare disorder due to poisoning
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Orphanet_556508 |
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Ventilator-induced diaphragmatic dysfunction
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Orphanet_505395 |
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Bilirubin-induced neurological dysfunction
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Orphanet_529808 |
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Multiple mitochondrial dysfunctions syndrome type 5
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Orphanet_569274 |
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Multiple mitochondrial dysfunctions syndrome type 6
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Orphanet_569290 |
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Metopic ridging-ptosis-facial dysmorphism syndrome
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Orphanet_502430 |
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Osteosclerotic metaphyseal dysplasia
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Orphanet_500548 |
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