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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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X-linked mandibulofacial dysostosis with limb anomalies
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Orphanet_1131 |
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Cerebellar ataxia-ectodermal dysplasia syndrome
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Orphanet_1174 |
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Acrorenal defect-ectodermal dysplasia-diabetes syndrome
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Orphanet_1133 |
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Limb-girdle muscular dystrophy type 2E
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Orphanet_119 |
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TMEM70-related mitochondrial encephalo-cardio-myopathy
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Orphanet_1194 |
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Microphthalmia with facial clefting
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Orphanet_1104 |
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Dancing eye-dancing feet syndrome
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Orphanet_1183 |
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Ulnar hypoplasia-split foot syndrome
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Orphanet_1122 |
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Luteinizing hormone-releasing hormone deficiency with ataxia
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Orphanet_1173 |
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Congenital unilateral hypoplasia of depressor anguli oris
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Orphanet_1166 |
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Radial deficiency-tibial hypoplasia syndrome
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Orphanet_1121 |
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Microphthalmia with limb anomalies
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Orphanet_1106 |
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Autosomal recessive limb-girdle muscular dystrophy type 2E
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Orphanet_119 |
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Caudal appendage-hearing loss syndrome
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Orphanet_1123 |
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Syndromic anorectal malformation
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Orphanet_117573 |
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