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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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Greig cephalopolysyndactyly-contiguous gene syndrome
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Orphanet_658805 |
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Neonatal membranous glomerulopathy with maternal NEP deficiency
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Orphanet_69063 |
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Familial renal glucosuria
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Orphanet_69076 |
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Familial renal glycosuria
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Orphanet_69076 |
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Sensorineural deafness-early graying-essential tremor syndrome
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Orphanet_66633 |
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Congenital isolated growth hormone deficiency
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Orphanet_631 |
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Non-acquired isolated growth hormone deficiency
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Orphanet_631 |
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Selective fetal growth restriction
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Orphanet_617301 |
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Selective intrauterine growth restriction
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Orphanet_617301 |
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Acquired elastotic haemangioma
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Orphanet_675597 |
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Giant pigmented hairy nevus
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Orphanet_626 |
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Eccrine angiomatous hamartoma
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Orphanet_673568 |
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Soft and hard cleft palate
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Orphanet_664372 |
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Nodal T-follicular helper cell lymphoma, follicular type
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Orphanet_652650 |
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Vegetant intravascular hemangioendothelioma
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Orphanet_673525 |
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