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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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Autosomal dominant progressive external ophthalmoplegia
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Orphanet_254892 |
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Isolated mitochondrial respiratory chain complex IV deficiency
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Orphanet_254905 |
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Isolated mitochondrial respiratory chain complex V deficiency
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Orphanet_254913 |
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Reversible infantile respiratory chain deficiency
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Orphanet_254864 |
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Autosomal recessive spastic ataxia type 4
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Orphanet_254343 |
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Ataxia neuropathy spectrum
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Orphanet_254818 |
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Lichen planus subtropicus
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Orphanet_254395 |
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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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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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mtDNA depletion syndrome, myopathic form
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Orphanet_254875 |
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Isolated ATP synthase deficiency
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Orphanet_254913 |
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