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| created at |
2025-11-26 04:53:50 UTC |
| updated at |
2025-11-27 01:00:35 UTC |
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Mondo ID - Mondo Label
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30,114 entries
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There is 0 pattern entry.
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ALDH18A1-related de Barsy syndrome
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0009053 |
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cystic fibrosis-gastritis-megaloblastic anemia syndrome
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0009062 |
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non-acquired combined pituitary hormone deficiency with spine abnormalities
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0009091 |
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dwarfism, intellectual disability, and eye abnormality
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0009128 |
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dyskeratosis congenita, autosomal recessive 1
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0009136 |
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ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
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0009149 |
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cleft lip/palate-ectodermal dysplasia syndrome
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0009151 |
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epidermodysplasia verruciformis
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0009176 |
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late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
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0009177 |
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recessive dystrophic epidermolysis bullosa
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0009179 |
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junctional epidermolysis bullosa with pyloric atresia
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0009183 |
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hyaline fibromatosis syndrome
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0009229 |
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fucosidosis
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0009254 |
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glycogen storage disease due to glucose-6-phosphatase deficiency type IA
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0009287 |
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46 XX gonadal dysgenesis
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0009299 |
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