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Mondo Disease Ontology
MONDO
MONDO:0034104
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global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
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http://purl.obolibrary.org/obo/MONDO_0034104
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This is just here as a test because I lose it
Term information
database cross reference
Orphanet:544488
(MONDO:equivalentTo)
Subsets
ordo_disease
exactMatch
http://www.orpha.net/ORDO/Orphanet_544488
id
MONDO:0034104
Term relations
Subclass of:
neurometabolic disease
inborn disorder of ornithine metabolism
cerebral organic aciduria
has material basis in gain of function germline mutation in
some
ODC1