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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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4q25 proximal deletion syndrome
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Orphanet_502437 |
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SIN3A-related intellectual disability syndrome
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Orphanet_500163 |
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Tall stature-intellectual disability-renal anomalies syndrome
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Orphanet_500095 |
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Mucopolysaccharidosis-like plus disease
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Orphanet_505248 |
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Hao-Fountain syndrome due to 16p13.2 microdeletion
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Orphanet_500055 |
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Combined immunodeficiency due to GINS1 deficiency
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Orphanet_505227 |
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Combined immunodeficiency due to Moesin deficiency
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Orphanet_504530 |
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Ventilator-induced diaphragmatic dysfunction
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Orphanet_505395 |
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Metopic ridging-ptosis-facial dysmorphism syndrome
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Orphanet_502430 |
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Osteosclerotic metaphyseal dysplasia
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Orphanet_500548 |
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Eccrine tumors-ectodermal dysplasia
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Orphanet_50944 |
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EXTL3-related neuro-immuno-skeletal dysplasia syndrome
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Orphanet_508533 |
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Childhood-onset generalized dystonia-optic atrophy syndrome
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Orphanet_508093 |
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Progressive myoclonic epilepsy type 2
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Orphanet_501 |
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Progressive myoclonus epilepsy type 2
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Orphanet_501 |
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