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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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Isolated coloboma of the nose
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Orphanet_141242 |
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Median cleft of the upper lip and maxilla
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Orphanet_141239 |
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Coloboma of optic nerve with renal disease
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Orphanet_1475 |
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Bilateral microtia-deafness-cleft palate syndrome
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Orphanet_140963 |
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Cholestasis-pigmentary retinopathy-cleft palate syndrome
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Orphanet_1415 |
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Familial calcium pyrophosphate deposition
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Orphanet_1416 |
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Hereditary calcium pyrophosphate deposition
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Orphanet_1416 |
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Criss-cross atrioventricular relationships
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Orphanet_1461 |
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Isolated mitochondrial respiratory chain complex III deficiency
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Orphanet_1460 |
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Severe acute respiratory syndrome
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Orphanet_140896 |
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Chondrodysplasia-difference of sex development syndrome
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Orphanet_1422 |
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Chondrodysplasia-disorder of sex development syndrome
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Orphanet_1422 |
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Nasal dermoid sinus cyst
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Orphanet_141103 |
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Autosomal dominant slowed nerve conduction velocity
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Orphanet_140481 |
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Congenital subglottic stenosis
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Orphanet_141121 |
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