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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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Autosomal recessive spastic paraplegia type 70
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Orphanet_401835 |
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Autosomal recessive spastic paraplegia type 71
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Orphanet_401840 |
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Pancytopenia-developmental delay syndrome
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Orphanet_401764 |
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Spasticity-ataxia-gait anomalies syndrome
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Orphanet_401866 |
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9q31.1q31.3 microdeletion syndrome
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Orphanet_401923 |
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14q24.1q24.3 microdeletion syndrome
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Orphanet_401935 |
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1p31p32 microdeletion syndrome
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Orphanet_401986 |
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Huntington disease-like syndrome due to C9ORF72 expansions
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Orphanet_401901 |
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Cold-induced sweating syndrome-hyperthermia spectrum
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Orphanet_401993 |
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Lipoic acid synthetase deficiency
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Orphanet_401859 |
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Episodic ataxia type 8
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Orphanet_401953 |
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Moyamoya disease with early-onset achalasia
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Orphanet_401945 |
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Proximal myopathy with extrapyramidal signs
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Orphanet_401768 |
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Childhood-onset spasticity with hyperglycinemia
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Orphanet_401866 |
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Episodic ataxia with slurred speech
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Orphanet_401953 |
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