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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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mtDNA depletion syndrome, myopathic form
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Orphanet_254875 |
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Isolated ATP synthase deficiency
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Orphanet_254913 |
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Glycine cleavage system L protein deficiency
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Orphanet_255182 |
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Inherited nervous system cancer-predisposing syndrome
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Orphanet_252190 |
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Central nervous system embryonal tumor
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Orphanet_251870 |
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Central nervous system primitive neuroectodermal tumor
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Orphanet_251870 |
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Short Achilles tendon
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Orphanet_251515 |
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46,XY partial testicular dysgenesis
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Orphanet_251510 |
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Choriocarcinoma of the central nervous system
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Orphanet_252015 |
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Teratoma of the central nervous system
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Orphanet_252018 |
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Overlapping connective tissue disease
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Orphanet_251312 |
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AICA-ribosiduria due to ATIC deficiency
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Orphanet_250977 |
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Early-onset generalized torsion dystonia
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Orphanet_256 |
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Serpinopathy with toxic serpin polymerization
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Orphanet_250808 |
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Mitochondrial membrane transport disorder
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Orphanet_254827 |
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