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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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Graham Little syndrome
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Orphanet_505 |
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Graham Little-Piccardi-Lassueur syndrome
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Orphanet_505 |
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Gabriele-de Vries syndrome
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Orphanet_506358 |
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YY1 haploinsufficiency syndrome
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Orphanet_506358 |
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SJS/TEN overlap syndrome
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Orphanet_506784 |
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Stevens-Johnson/TEN overlap syndrome
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Orphanet_506784 |
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Lipodystrophy-intellectual disability-deafness syndrome
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Orphanet_50811 |
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Branchiogenic deafness syndrome
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Orphanet_50815 |
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Duane anomaly-myopathy-scoliosis syndrome
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Orphanet_50817 |
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8q24.3 microdeletion syndrome
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Orphanet_508488 |
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Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
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Orphanet_508533 |
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Bartonellosis due to Bartonella henselae infection
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Orphanet_50839 |
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Hyperphenylalaninemia due to DNAJC12 deficiency
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Orphanet_508523 |
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CID due to GINS1 deficiency
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Orphanet_505227 |
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SCID due to LAT deficiency
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Orphanet_504523 |
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