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Mondo Disease Ontology
MONDO
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Label
Id
Description
alkaline ceramidase 3 deficiency
MONDO_0044718
sitosterolemia 1
MONDO_0020747
contractures, pterygia, and variable skeletal fusions syndrome 1B
MONDO_0020746
contractures, pterygia, and variable skeletal fusions syndrome
MONDO_0020937
autosomal recessive multiple pterygium syndrome
MONDO_0009926
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
MONDO_0020745
metopic ridging-ptosis-facial dysmorphism syndrome
MONDO_0044715
epispadias
MONDO_0019759
Mobitz type I atrioventricular block
MONDO_0020744
mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
MONDO_0044714
mixed phenotype acute leukemia
MONDO_0020743
acute leukemia of ambiguous lineage
MONDO_0019460
localized Castleman disease
MONDO_0019753
Castleman disease
MONDO_0015564
hearing loss, autosomal recessive 113
MONDO_0032732
pediatric Castleman disease
MONDO_0019752
leukodystrophy, hypomyelinating, 18
MONDO_0032730
multicentric Castleman disease
MONDO_0019754
obsolete rare renal disease
MONDO_0019750
Charcot-Marie-Tooth disease, axonal, type 2EE
MONDO_0032728