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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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Syndrome with a Dandy-Walker malformation as a major feature
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Orphanet_269546 |
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Syndrome with a cerebellar malformation as a major feature
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Orphanet_269523 |
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Pontine tegmental cap dysplasia
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Orphanet_269229 |
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Genetic non-syndromic central nervous system malformation
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Orphanet_269550 |
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Isolated total cerebellar vermis agenesis
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Orphanet_269206 |
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Isolated partial cerebellar vermis agenesis
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Orphanet_269209 |
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Isolated focal cortical dysplasia type IIa
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Orphanet_269001 |
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Isolated focal cortical dysplasia type IIb
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Orphanet_269008 |
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Facioscapulohumeral muscular dystrophy
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Orphanet_269 |
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Genetic posterior fossa malformation
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Orphanet_269557 |
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Isolated unilateral hemispheric cerebellar hypoplasia
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Orphanet_269218 |
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Isolated bilateral hemispheric cerebellar hypoplasia
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Orphanet_269221 |
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Congenital communicating hydrocephalus
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Orphanet_269505 |
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Congenital non-obstructive hydrocephalus
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Orphanet_269505 |
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Congenital non-communicating hydrocephalus
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Orphanet_269510 |
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