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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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Intermediate epidermolysis bullosa simplex with cardiomyopathy
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Orphanet_508529 |
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Pancreatic neuroendocrine carcinoma
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Orphanet_506098 |
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Squamous cell carcinoma of oral cavity and lip
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Orphanet_502369 |
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Squamous cell carcinoma of salivary glands
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Orphanet_500481 |
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Squamous cell carcinoma of the lip
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Orphanet_502366 |
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Squamous cell carcinoma of the nasal cavity and sinuses
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Orphanet_500464 |
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Squamous cell carcinoma of the oral cavity
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Orphanet_502363 |
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Squamous cell carcinoma of the oropharynx
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Orphanet_500478 |
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Autosomal recessive childhood-onset dystonia, DYT29 type
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Orphanet_508093 |
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ACER3-related early childhood-onset progressive leukodystrophy
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Orphanet_502444 |
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Blomstrand lethal chondrodysplasia
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Orphanet_50945 |
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Agenesis of corpus callosum with chorioretinal abnormality
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Orphanet_50 |
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Cochlear nerve deficiency
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Orphanet_502318 |
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Hyaluronidase 2 deficiency
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Orphanet_508476 |
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Chromosome 16p13.2 deletion syndrome
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Orphanet_500055 |
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