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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.
HA20-related monogenic Behcet-like disease
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Orphanet_674762 |
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Deficiency in ELF4, X-linked
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Orphanet_676125 |
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Mucopolysaccharidosis type IX
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Orphanet_67041 |
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Stellate multiform amelanotic choroidopathy
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Orphanet_674958 |
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Congenital dyserythropoietic anemia with thombocytopenia
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Orphanet_67044 |
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Littoral cell angioma
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Orphanet_673538 |
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Isolated retinal arteriovenous aneurysm 3
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Orphanet_674924 |
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Classic pilocytic astrocytoma
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Orphanet_673580 |
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Juvenile pilocytic astrocytoma
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Orphanet_673580 |
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Anaplastic pilocytic astrocytoma
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Orphanet_673585 |
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Costeff optic atrophy syndrome
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Orphanet_67047 |
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Infantile optic atrophy with chorea and spastic paraplegia
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Orphanet_67047 |
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Atypical macular coloboma
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Orphanet_674935 |
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Thrombocytopenia with congenital dyserythropoietic anemia
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Orphanet_67044 |
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TCF12-related syndromic craniosynostosis
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Orphanet_672979 |
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