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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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Hereditary breast carcinoma
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Orphanet_227535 |
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Ichthyosis-oral and digital anomalies syndrome
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Orphanet_2272 |
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Autosomal recessive optic atrophy, OPA7 type
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Orphanet_227976 |
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Congenital ichthyosis-microcephalus-quadriplegia syndrome
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Orphanet_2271 |
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Congenital ichthyosis-microcephalus-tetraplegia syndrome
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Orphanet_2271 |
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Clayton Smith-Donnai syndrome
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Orphanet_2272 |
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Ichthyosis follicularis-alopecia-photophobia syndrome
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Orphanet_2273 |
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Ichthyosis follicularis-atrichia-photophobia syndrome
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Orphanet_2273 |
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Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
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Orphanet_2274 |
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Toxic oil syndrome
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Orphanet_227972 |
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Autoimmune polyendocrine syndrome type 3
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Orphanet_227982 |
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Autoimmune polyglandular syndrome type 3
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Orphanet_227982 |
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Autoimmune polyendocrine syndrome type 4
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Orphanet_227990 |
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Autoimmune polyglandular syndrome type 4
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Orphanet_227990 |
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MSA, cerebellar type
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Orphanet_227510 |
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