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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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Keratolytic winter erythema
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Orphanet_50943 |
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NEN of esophagus
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Orphanet_506136 |
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Infantile-onset periodic fever-panniculitis-dermatosis syndrome
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Orphanet_500062 |
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Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
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Orphanet_508523 |
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MSN-related combined immunodeficiency
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Orphanet_504530 |
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X-linked Moesin-associated immunodeficiency
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Orphanet_504530 |
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Severe combined immunodeficiency due to LAT deficiency
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Orphanet_504523 |
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Striate palmoplantar keratoderma
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Orphanet_50942 |
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Familial multiple lentigines syndrome
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Orphanet_500 |
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Lipodystrophy-intellectual disability-hearing loss syndrome
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Orphanet_50811 |
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Branchiogenic hearing loss syndrome
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Orphanet_50815 |
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Sphingosine phosphate lyase insufficiency syndrome
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Orphanet_506334 |
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Histiocytic necrotizing lymphadenitis
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Orphanet_50918 |
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Erythema multiforme major
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Orphanet_502499 |
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Erythema multiforme majus
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Orphanet_502499 |
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