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All terms in MONDO

Label Id Description
4-hydroxyphenylacetic aciduria MONDO_0022330
5-nucleotidase syndrome MONDO_0022333
obsolete Usher syndrome, type 2b MONDO_0024996
AIDS dysmorphic syndrome MONDO_0022337
X-linked distal spinal muscular atrophy type 3 MONDO_0010338
X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO_0010337
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO_0009359
guanidinoacetate methyltransferase deficiency MONDO_0012999
cerebral creatine deficiency syndrome MONDO_0000456
creatine biosynthetic process disease MONDO_0045018
Hutterite cerebroosteonephrodysplasia syndrome MONDO_0009358
epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO_0010339
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features MONDO_0859390
humeroradial synostosis with craniofacial anomalies MONDO_0009357
humeroradial synostosis MONDO_0007737
autosomal recessive humeroradial synostosis MONDO_0009356
Hooft disease MONDO_0009355
methylcobalamin deficiency type cblE MONDO_0009354
homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO_0009353
disorder of folate metabolism and transport MONDO_0017313