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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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ATIC deficiency
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Orphanet_250977 |
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Monosomy 1q21.1
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Orphanet_250989 |
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Trisomy 1q21.1
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Orphanet_250994 |
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Monosomy 1q41q42
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Orphanet_250999 |
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Logopenic variant PPA
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Orphanet_250831 |
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Metaphyseal chondrodysplasia, Spahr type
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Orphanet_2501 |
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Autosomal recessive Stickler syndrome
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Orphanet_250984 |
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Corpus callosum agenesis-abnormal genitalia syndrome
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Orphanet_2508 |
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Logopenic progressive aphasia
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Orphanet_250831 |
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Multiple benign circumferential skin creases on limbs
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Orphanet_2505 |
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Circumferential skin creases, Kunze type
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Orphanet_2505 |
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AICAR transformylase/IMP cyclohydrolase deficiency
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Orphanet_250977 |
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Rare neoplastic disease
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Orphanet_250908 |
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Rare tumoral disease
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Orphanet_250908 |
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Median cleft face syndrome
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Orphanet_250 |
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