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| created at |
2021-12-22 03:08:20 UTC |
| updated at |
2021-12-22 07:06:09 UTC |
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MONDO_bioport_pref_name
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183,974 entries
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There is 0 pattern entry.
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syndromic X-linked intellectual disability 35
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30908 |
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cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
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19083 |
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mucolipidoses, type i
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D009081 |
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mucolipidosis type i
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D009081 |
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mucolipidosis, type i
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D009081 |
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tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
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9908 |
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conductive hearing loss and malformed low-set ears
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9083 |
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gram-positive bacterial infection
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D016908 |
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juvenile myelomonocytic leukemia; JMML
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http://purl.obolibrary.org/obo/MONDO_0011908 |
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cafe au lait spots
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D019080 |
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conductive hearing loss-malformed external ear syndrome
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9083 |
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familial congenital moderate neural hearing loss
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9083 |
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acrodysgenital syndrome, lethal
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D019082 |
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acrodysgenital syndromes, lethal
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D019082 |
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juvenile myelomonocytic leukemia
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11908 |
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