MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
malabsorptive, congenital diarrhea 4 C563673
wiedemann grosse dibbern syndrome C536704
Zeta-associated-protein 70 deficiency C536722
carnitine uptake deficiency C536778
systemic carnitine deficiency C536778
benign hyperostosis corticalis generalisata C536748
angiomatosis, diffuse corticomeningeal, of divry and van bogaert C536367
chromosome xq duplication syndrome C536732
x-linked immunoneurologic disorder C536743
x chromosome, duplication xq13 1 q21 1 C536753
type 4 ectodermal dysplasia C536726
macrocephaly and dysplastic nails pectus excavatum C536728
multiple mitochondrial dysfunctions syndrome 2 13675
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 13675
TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy 13677