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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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Mégarbané-Loiselet syndrome
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Orphanet_50815 |
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Verloes-Deprez syndrome
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Orphanet_50817 |
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Cat-scratch disease
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Orphanet_50839 |
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Deletion 8q24.3
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Orphanet_508488 |
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Monosomy 8q24.3
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Orphanet_508488 |
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Verheij syndrome
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Orphanet_508488 |
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MYSM1 deficiency
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Orphanet_508542 |
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Intermediate epidermolysis bullosa simplex with cardiomyopathy
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Orphanet_508529 |
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Autosomal recessive childhood-onset dystonia, DYT29 type
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Orphanet_508093 |
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Hyaluronidase 2 deficiency
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Orphanet_508476 |
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EXTL3-related neuro-immuno-skeletal dysplasia syndrome
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Orphanet_508533 |
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Childhood-onset generalized dystonia-optic atrophy syndrome
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Orphanet_508093 |
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Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
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Orphanet_508523 |
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Lipodystrophy-intellectual disability-hearing loss syndrome
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Orphanet_50811 |
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Branchiogenic hearing loss syndrome
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Orphanet_50815 |
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