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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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KLHL7-related Crisponi/cold-induced sweating-like syndrome
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Orphanet_603694 |
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Fenestrae parietales symmetricae
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Orphanet_60015 |
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Macrocephaly-capillary malformation syndrome
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Orphanet_60040 |
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Megalencephaly-capillary malformation syndrome
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Orphanet_60040 |
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Megalencephaly-capillary malformation-polymicrogyria syndrome
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Orphanet_60040 |
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KLHL7-related BOS-like syndrome
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Orphanet_603689 |
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KLHL7-related Bohring-Opitz-like syndrome
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Orphanet_603689 |
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KLHL7-related Crisponi-like syndrome
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Orphanet_603694 |
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EN1-related dorsoventral syndrome
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Orphanet_611223 |
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SAMD9L-associated autoinflammatory syndrome
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Orphanet_619367 |
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SOCS1-related autoinflammatory syndrome
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Orphanet_619948 |
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HEM1 deficiency syndrome
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Orphanet_619953 |
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Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
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Orphanet_621758 |
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CPE-related Prader-Willi-like syndrome
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Orphanet_633028 |
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Bamboo hair syndrome
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Orphanet_634 |
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