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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.
TRIANGLE disease
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Orphanet_444463 |
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Hypotrichosis, Marie Unna type
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Orphanet_444 |
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Idiopathic phalangeal acro-osteolysis
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Orphanet_444316 |
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Idiopathic phalangeal acroosteolysis
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Orphanet_444316 |
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Evans syndrome associated with primary immunodeficiency
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Orphanet_444463 |
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Marie Unna congenital hypotrichosis
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Orphanet_444 |
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46,XX ovarian dysgenesis-short stature syndrome
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Orphanet_444048 |
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Marie Unna hereditary hypotrichosis
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Orphanet_444 |
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Autoimmune interstitial lung disease-arthritis syndrome
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Orphanet_444092 |
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Combined oxidative phosphorylation defect type 23
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Orphanet_444013 |
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Combined oxidative phosphorylation defect type 24
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Orphanet_444458 |
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Autosomal dominant spastic paraplegia type 73
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Orphanet_444099 |
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Caudal regression-sirenomelia spectrum
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Orphanet_444941 |
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11q22.2q22.3 microdeletion syndrome
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Orphanet_444002 |
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20q11.2 microdeletion syndrome
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Orphanet_444051 |
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