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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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Familial adrenal hypoplasia with absent pituitary LH
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Orphanet_95700 |
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Familial adrenal hypoplasia, miniature type
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Orphanet_95700 |
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Non-syndromic posterior hypospadias
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Orphanet_95706 |
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Idiopathic congenital hypothyroidism
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Orphanet_95717 |
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Primary congenital hypothyroidism due to developmental anomaly
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Orphanet_95711 |
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Acute adrenal insufficiency
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Orphanet_95409 |
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Acute adrenocortical insufficiency
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Orphanet_95409 |
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Pituitary stalk interruption syndrome
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Orphanet_95496 |
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Congenital thyroid malformation without hypothyroidism
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Orphanet_95718 |
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Idiopathic isolated micropenis
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Orphanet_95707 |
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Congenital disorder of glycosylation type 2h
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Orphanet_95428 |
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Congenital disorder of glycosylation type IIh
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Orphanet_95428 |
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Congenital anomaly of hepatic vein
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Orphanet_95507 |
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Congenital anomaly of superior caval vein
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Orphanet_95498 |
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Congenital anomaly of superior vena cava
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Orphanet_95498 |
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