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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 anophthalmia-microphthalmia syndrome
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Orphanet_2542 |
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19p13.12 microdeletion syndrome
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Orphanet_254346 |
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Microphthalmia-microtia-fetal akinesia syndrome
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Orphanet_2547 |
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Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
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Orphanet_254898 |
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Microspherophakia-metaphyseal dysplasia syndrome
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Orphanet_2551 |
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mtDNA-associated Leigh syndrome
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Orphanet_255210 |
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Ear-patella-short stature syndrome
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Orphanet_2554 |
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Microphthalmia-dermal aplasia-sclerocornea syndrome
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Orphanet_2556 |
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Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
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Orphanet_2563 |
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Skeletal dysplasia-brachydactyly syndrome
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Orphanet_2565 |
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Lubani-Al Saleh-Teebi syndrome
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Orphanet_2575 |
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Atypical MRKH syndrome
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Orphanet_2578 |
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Myoclonus-cerebellar ataxia-deafness syndrome
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Orphanet_2589 |
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mtDNA depletion syndrome, encephalomyopathic form
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Orphanet_254803 |
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mtDNA depletion syndrome, hepatocerebral form
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Orphanet_254871 |
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