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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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Aminoacylase 2 deficiency
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Orphanet_141 |
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Carbamoyl-phosphate synthetase deficiency
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Orphanet_147 |
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Multiple carboxylase deficiency
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Orphanet_148 |
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Calcium pyrophosphate dihydrate crystal deposition disease
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Orphanet_1416 |
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Autosomal dominant distal hereditary motor neuropathy
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Orphanet_140465 |
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Autosomal recessive distal hereditary motor neuropathy
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Orphanet_140468 |
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Autosomal dominant distal spinal muscular atrophy
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Orphanet_140465 |
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Autosomal recessive distal spinal muscular atrophy
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Orphanet_140468 |
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Short stature due to primary acid-labile subunit deficiency
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Orphanet_140941 |
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Curly hair-ankyloblepharon-nail dysplasia syndrome
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Orphanet_1401 |
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X-linked skeletal dysplasia-intellectual disability syndrome
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Orphanet_1436 |
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Limb-girdle muscular dystrophy type 2J
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Orphanet_140922 |
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Benign neonatal-infantile epilepsy
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Orphanet_140927 |
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Pili trianguli et canaliculi
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Orphanet_1410 |
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Commissural lip fistula
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Orphanet_141061 |
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