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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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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
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32705 |
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DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
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32760 |
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KCNJ5 long QT syndrome
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13279 |
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HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS
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32787 |
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NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
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32755 |
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NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
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32784 |
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NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
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32775 |
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CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
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32788 |
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MYOPATHY, CONGENITAL, WITH TREMOR
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32797 |
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DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
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32745 |
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DEAFNESS, AUTOSOMAL RECESSIVE 100
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32740 |
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Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia
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32733 |
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DEAFNESS, AUTOSOMAL RECESSIVE 113
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32732 |
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DEAFNESS, AUTOSOMAL RECESSIVE 114
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32761 |
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DEAFNESS, AUTOSOMAL RECESSIVE 115
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32762 |
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