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Mondo Disease Ontology
MONDO
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Label
Id
Description
blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
MONDO_0016857
blepharophimosis, ptosis, and epicanthus inversus syndrome
MONDO_0007201
blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
MONDO_0016858
blepharophimosis-epicanthus inversus-ptosis due to copy number variations
MONDO_0016859
paternal uniparental disomy of chromosome X
MONDO_0016852
ring chromosome Y
MONDO_0016853
49,XXXYY syndrome
MONDO_0016854
Mowat-Wilson syndrome due to monosomy 2q22
MONDO_0016855
atypical Norrie disease due to monosomy Xp11.3
MONDO_0016850
partial monosomy of the short arm of chromosome X
MONDO_0017004
maternal uniparental disomy of chromosome X
MONDO_0016851
obsolete vulva adenocarcinoma
MONDO_0002208
heel spur
MONDO_0002209
obsolete atypical teratoid rhabdoid tumor
MONDO_0002215
female breast upper-outer quadrant cancer
MONDO_0004878
transient neonatal thrombocytopenia
MONDO_0004877
brain sarcoma
MONDO_0002216
senile atrophy of choroid
MONDO_0004879
choroidal sclerosis
MONDO_0004885
temporal lobe cancer
MONDO_0002218