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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.
AR CID due to partial GP130 deficiency
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Orphanet_656300 |
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AR CID due to partial IL6ST deficiency
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Orphanet_656300 |
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Rare disorder due to unbalanced inter-twin blood transfusion
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Orphanet_617310 |
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Small bowel duplication
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Orphanet_662456 |
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Small intestine duplication
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Orphanet_662456 |
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DNMT3A-related microcephalic dwarfism
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Orphanet_658595 |
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Segmental spinal dysgenesis
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Orphanet_656126 |
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Athabascan brainstem dysgenesis syndrome
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Orphanet_69739 |
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Athabaskan brainstem dysgenesis syndrome
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Orphanet_69739 |
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Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
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Orphanet_658843 |
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Body integrity dysphoria
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Orphanet_623789 |
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MIR140-related spondyloepiphyseal dysplasia
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Orphanet_623695 |
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Angel-shaped phalango-epiphyseal dysplasia
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Orphanet_63442 |
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MGP-related spondyloepiphyseal dysplasia
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Orphanet_664377 |
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Segmental odontomaxillary dysplasia
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Orphanet_67039 |
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