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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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Neurogenic arthrogryposis multiplex congenita
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Orphanet_1143 |
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X-linked spinal muscular atrophy type 2
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Orphanet_1145 |
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Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
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Orphanet_119 |
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X-linked cardioskeletal myopathy and neutropenia
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Orphanet_111 |
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Abnormal origin of the pulmonary artery
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Orphanet_1138 |
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Autosomal dominant spastic ataxia type 7
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Orphanet_1182 |
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De Die-Smulders-Vles-Fryns syndrome
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Orphanet_1130 |
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Infantile-onset X-linked spinal muscular atrophy
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Orphanet_1145 |
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Autosomal recessive spinocerebellar ataxia type 2
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Orphanet_1170 |
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Anophthalmia plus syndrome
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Orphanet_1104 |
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Fryns microphthalmia syndrome
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Orphanet_1104 |
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Waardenburg anophthalmia syndrome
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Orphanet_1106 |
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Cardioskeletal myopathy-neutropenia syndrome
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Orphanet_111 |
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Aplasia cutis-myopia syndrome
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Orphanet_1117 |
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Fibular aplasia-ectrodactyly syndrome
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Orphanet_1118 |
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