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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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Familial renal amyloidosis due to apolipoprotein A-I variant
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Orphanet_93560 |
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Hereditary renal amyloidosis due to apolipoprotein A-I variant
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Orphanet_93560 |
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Familial renal amyloidosis due to lysozyme variant
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Orphanet_93561 |
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Hereditary renal amyloidosis due to lysozyme variant
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Orphanet_93561 |
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aHUS with anti-factor H antibodies
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Orphanet_93581 |
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Congenital ADAMTS-13 deficiency
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Orphanet_93583 |
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D-glycerate dehydrogenase deficiency
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Orphanet_93599 |
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Heavy chain deposition disease
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Orphanet_93556 |
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Light chain deposition disease
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Orphanet_93558 |
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Dense deposit disease
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Orphanet_93571 |
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Immunodeficiency-short limb dwarfism syndrome
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Orphanet_935 |
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Light and heavy chain deposition disease
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Orphanet_93557 |
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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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