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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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Congenital obstructive hydrocephalus
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Orphanet_269510 |
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Diffuse cerebellar malformation
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Orphanet_269224 |
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Global cerebellar malformation
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Orphanet_269224 |
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Genetic brain malformation
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Orphanet_269553 |
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Genetic cerebral malformation
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Orphanet_269553 |
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Genetic cerebellar malformation
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Orphanet_269560 |
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Isolated Dandy-Walker malformation with hydrocephalus
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Orphanet_269212 |
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Isolated Dandy-Walker malformation without hydrocephalus
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Orphanet_269215 |
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Syndrome with microcephaly as a major feature
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Orphanet_269528 |
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Median nodule of the upper lip
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Orphanet_2699 |
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Neutropenia-monocytopenia-hearing loss syndrome
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Orphanet_2690 |
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Arthrogryposis-renal dysfunction-cholestasis syndrome
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Orphanet_2697 |
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Central nervous system cystic malformation
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Orphanet_269194 |
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Isolated cerebellar vermis agenesis
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Orphanet_269203 |
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Genetic syndrome with a CNS malformation as major feature
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Orphanet_269564 |
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