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Mondo Disease Ontology
MONDO
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Label
Id
Description
Schrander-stumpel-Theunissen-Hulsmans syndrome
MONDO_0042913
obsolete malformation syndrome with odontal and/or periodontal component
MONDO_0015336
obsolete Schmitt-Gillenwater-Kelly syndrome
MONDO_0042915
obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency
MONDO_0017996
telecanthus-hypertelorism-strabismus-pes cavus syndrome
MONDO_0017997
adrenomyeloneuropathy
MONDO_0015339
Schwartz-Cohen-addad-Lambert syndrome
MONDO_0042911
fatty acid hydroxylase-associated neurodegeneration
MONDO_0017999
non-syndromic unisutural craniosynostosis
MONDO_0850072
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
MONDO_0017992
immunodeficiency 106, susceptibility to viral infections
MONDO_0030970
non-syndromic unicoronal craniosynostosis
MONDO_0850073
cerebral sinovenous thrombosis
MONDO_0017993
non-syndromic unilambdoid craniosynostosis
MONDO_0850074
spermatogenic failure 74
MONDO_0030972
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
MONDO_0017994
non-syndromic unifrontosphenoidal craniosynostosis
MONDO_0850075
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
MONDO_0017995
immunodeficiency 78 with autoimmunity and developmental delay
MONDO_0030971
non-syndromic unisquamosal craniosynostosis
MONDO_0850076