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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 atypical cold urticaria
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Orphanet_300359 |
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PLCG2-associated antibody deficiency and immune dysregulation
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Orphanet_300359 |
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Congenital cataract-deafness-severe developmental delay syndrome
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Orphanet_300313 |
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Lethal neurodegenerative disorder due to copper transport defect
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Orphanet_300313 |
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Infantile gigantism due to pituitary hyperplasia
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Orphanet_300373 |
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Familial infantile gigantism
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Orphanet_300373 |
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Hereditary infantile gigantism
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Orphanet_300373 |
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Hereditary pituitary hyperplasia
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Orphanet_300373 |
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Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
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Orphanet_300333 |
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Autosomal systemic lupus erythematosus
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Orphanet_300345 |
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Familial systemic lupus erythematosus
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Orphanet_300345 |
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Progeroid and marfanoid aspect-lipodystrophy syndrome
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Orphanet_300382 |
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EBS with nephropathy
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Orphanet_300333 |
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Epidermolysis bullosa simplex with nephropathy
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Orphanet_300333 |
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11p15.4 microduplication syndrome
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Orphanet_300305 |
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