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Mondo Disease Ontology
MONDO
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Label
Id
Description
methylmalonic aciduria, cblB type
MONDO_0009614
vitamin B12-responsive methylmalonic acidemia
MONDO_0017214
methylmalonic aciduria, cblA type
MONDO_0009613
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MONDO_0009612
3-methylglutaconic aciduria type 4
MONDO_0009611
3-methylglutaconic aciduria type 1
MONDO_0009610
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
MONDO_0010611
L1 syndrome
MONDO_0017140
holoprosencephaly-hypokinesia-congenital contractures syndrome
MONDO_0010610
obsolete Hirschsprung disease with type d brachydactyly
MONDO_0010609
Desbuquois dysplasia 1
MONDO_0009629
obsolete microcolon
MONDO_0009628
Galloway-Mowat syndrome
MONDO_0009627
diencephalic-mesencephalic junction dysplasia syndrome 1
MONDO_0009625
diencephalic-mesencephalic junction dysplasia syndrome
MONDO_0033211
hemophilia A
MONDO_0010602
microcephaly and chorioretinopathy 1
MONDO_0009624
obsolete gynecomastia, familial
MONDO_0010601
Nijmegen breakage syndrome
MONDO_0009623
hemophilia B
MONDO_0010604