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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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Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
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Orphanet_397744 |
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Polyglucosan body myopathy type 1
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Orphanet_397937 |
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Familial isolated prolactin receptor deficiency
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Orphanet_397685 |
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Severe combined immunodeficiency due to IKK2 deficiency
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Orphanet_397787 |
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COASY protein-associated neurodegeneration
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Orphanet_397725 |
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Intellectual disability-truncal obesity syndrome
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Orphanet_397941 |
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IQSEC2-related syndromic intellectual disability
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Orphanet_397933 |
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T+ B+ severe combined immunodeficiency
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Orphanet_397802 |
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Activated PI3K-delta syndrome
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Orphanet_397596 |
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Autosomal recessive spinocerebellar ataxia type 20
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Orphanet_397709 |
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Autosomal spastic paraplegia type 58
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Orphanet_397946 |
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Macrocephaly-developmental delay syndrome
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Orphanet_397612 |
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3q27.3 microdeletion syndrome
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Orphanet_397695 |
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Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
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Orphanet_397744 |
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Prion protein systemic amyloidosis
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Orphanet_397606 |
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