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Mondo Disease Ontology
MONDO
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Label
Id
Description
endocardial fibroelastosis and coarctation of abdominal aorta
MONDO_0009170
tyrosinemia type I
MONDO_0010161
tyrosinemia type II
MONDO_0010160
Tyrosinosis
MONDO_0010163
tyrosinemia type III
MONDO_0010162
recessive dystrophic epidermolysis bullosa
MONDO_0009179
Chitty Hall Webb syndrome
MONDO_0022151
epidermolysis bullosa dystrophica Neurotrophica
MONDO_0009178
late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
MONDO_0009177
celiac disease-epilepsy-cerebral calcification syndrome
MONDO_0009187
orofaciodigital syndrome type 6
MONDO_0010176
Joubert syndrome 17
MONDO_0013824
NAD(P)HX dehydratase deficiency
MONDO_0034121
epilepsy, photogenic, with spastic diplegia and intellectual disability
MONDO_0009186
van Bogaert-Hozay syndrome
MONDO_0010175
amelocerebrohypohidrotic syndrome
MONDO_0009185
congenital bilateral aplasia of vas deferens from CFTR mutation
MONDO_0010178
epidermolysis bullosa with diaphragmatic hernia
MONDO_0009184
vascular hyalinosis
MONDO_0010177
junctional epidermolysis bullosa with pyloric atresia
MONDO_0009183