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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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Cystinuria
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Orphanet_214 |
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Cystinuria-lysinuria syndrome
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Orphanet_214 |
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Froster-Huch syndrome
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Orphanet_2141 |
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DBS/FOAR syndrome
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Orphanet_2143 |
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Donnai-Barrow syndrome
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Orphanet_2143 |
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FOAR syndrome
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Orphanet_2143 |
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Facio-oculo-acoustico-renal syndrome
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Orphanet_2143 |
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Holmes-Schepens syndrome
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Orphanet_2143 |
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Lissencephaly type 1 due to doublecortin gene mutation
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Orphanet_2148 |
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Diaphragmatic defect-limb deficiency-skull defect syndrome
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Orphanet_2141 |
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Congenital diaphragmatic hernia
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Orphanet_2140 |
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Nodular neuronal heterotopia
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Orphanet_2149 |
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Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
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Orphanet_2143 |
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Diaphragmatic hernia-exomphalos-hypertelorism syndrome
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Orphanet_2143 |
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Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
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Orphanet_2143 |
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