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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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Sickle cell-hemoglobin C disease syndrome
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Orphanet_251365 |
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Sickle cell-hemoglobin D disease syndrome
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Orphanet_251370 |
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Sickle cell-hemoglobin E disease syndrome
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Orphanet_251375 |
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Mixed oligodendroglial and astrocytic tumor
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Orphanet_251651 |
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Osteochondritis dissecans and short stature
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Orphanet_251262 |
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Benign concentric annular macular dystrophy
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Orphanet_251287 |
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Desmoplastic infantile astrocytoma/ganglioglioma
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Orphanet_251940 |
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Junctional epidermolysis bullosa, non-Herlitz localized type
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Orphanet_251393 |
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Short tendo calcaneus
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Orphanet_251515 |
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Choroid plexus carcinoma
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Orphanet_251899 |
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Subependymal giant cell astrocytoma
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Orphanet_251618 |
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Primary germ cell tumor of CNS
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Orphanet_251995 |
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Primary germ cell tumor of central nervous system
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Orphanet_251995 |
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Autosomal recessive chorioretinopathy-microcephaly syndrome
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Orphanet_2518 |
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Plantar flexion contracture
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Orphanet_251515 |
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