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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 primary microcephaly
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Orphanet_2512 |
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Autosomal dominant primary microcephaly
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Orphanet_2514 |
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Logopenic primary progressive aphasia
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Orphanet_250831 |
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Autosomal recessive progressive external ophthalmoplegia
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Orphanet_254886 |
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Autosomal dominant progressive external ophthalmoplegia
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Orphanet_254892 |
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Pyruvate dehydrogenase protein X component deficiency
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Orphanet_255182 |
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Adult-onset autosomal recessive sideroblastic anemia
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Orphanet_255132 |
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Constitutional mismatch repair deficiency syndrome
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Orphanet_252202 |
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Isolated mitochondrial respiratory chain complex IV deficiency
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Orphanet_254905 |
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Isolated mitochondrial respiratory chain complex V deficiency
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Orphanet_254913 |
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Reversible infantile respiratory chain deficiency
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Orphanet_254864 |
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Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
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Orphanet_2521 |
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Pigmented paravenous retinochoroidal atrophy
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Orphanet_251295 |
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MPNST with rhabdomyosarcomatous differentiation
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Orphanet_252212 |
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5-amino-4-imidazole carboxamide ribosiduria
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Orphanet_250977 |
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