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Mondo Disease Ontology
MONDO
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Label
Id
Description
congenital articular rigidity
MONDO_0022820
diaphyseal medullary stenosis-bone malignancy syndrome
MONDO_0007205
bone pain, periodic
MONDO_0007206
lethal congenital glycogen storage disease of heart
MONDO_0009867
congenital benign spinal muscular atrophy dominant
MONDO_0022821
epiphyseal dysplasia, multiple, 2
MONDO_0010844
phosphoenolpyruvate carboxykinase deficiency, cytosolic
MONDO_0009866
phosphoenolpyruvate carboxykinase deficiency
MONDO_0017320
blue rubber bleb nevus
MONDO_0007203
dyslexia, susceptibility to, 2
MONDO_0010843
Cole-Carpenter syndrome 1
MONDO_0007204
glycogen storage disease due to phosphoglycerate mutase deficiency
MONDO_0009865
exostoses, multiple, type III
MONDO_0010846
phosphoenolpyruvate carboxykinase deficiency, mitochondrial
MONDO_0009864
obsolete macrothrombocytopenia and progressive sensorineural deafness
MONDO_0010845
blepharoptosis-myopia-ectopia lentis syndrome
MONDO_0007202
BH4-deficient hyperphenylalaninemia A
MONDO_0009863
spinocerebellar ataxia type 5
MONDO_0010848
dihydropteridine reductase deficiency
MONDO_0009862
spinocerebellar ataxia type 4
MONDO_0010847