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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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Open spinal dysraphism with a myelomeningocele
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Orphanet_93969 |
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Syndactyly of fingers 4 and 5
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Orphanet_93404 |
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Middle interhemispheric fusion variant
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Orphanet_93926 |
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Light and heavy chain deposition disease
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Orphanet_93557 |
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Isolated ulnar hemimelia
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Orphanet_93320 |
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Isolated radial hemimelia
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Orphanet_93321 |
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Isolated tibial hemimelia
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Orphanet_93322 |
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Isolated fibular hemimelia
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Orphanet_93323 |
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Familial hypocalciuric hypercalcemia type 1
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Orphanet_93372 |
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Non-syndromic limb hypoplasia
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Orphanet_93457 |
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Achondroplasia-severe combined immunodeficiency syndrome
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Orphanet_935 |
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Autosomal recessive infantile NPHP
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Orphanet_93591 |
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Autosomal recessive infantile nephronophthisis
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Orphanet_93591 |
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Isolated radial longitidinal meromelia
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Orphanet_93321 |
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Isolated congenital longitudinal deficiency of the fibula
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Orphanet_93323 |
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