MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
duplication xq13 1 q21 1 x chromosome C536753
complementation group 1 xeroderma pigmentosum C536765
X-linked, syndromic 6 mental retardation C536708
zeta-associated protein 70 deficiency C536722
wittwer tpe X-linked mental retardation syndrome C536760
mental retardation X-linked severe gustavson type C536759
corpus callosum agenesia, and mental retardation white matter hypoplasia C536701
systemic necrotizing angiitis C536779
gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly fibromatosis C536725
ectopia lentis, abnormal upper incisors and mental retardation aniridia C536723
forebrain defects and facial clefts brachial amelia C536713
forebrain defects, and facial clefts brachial amelia C536713
systemic necrotizing angitis C536779
dandy-walker malformation, and hydrocephalus sagittal craniosynostosis C536790
hearing loss ankle anomalies and neurological regression-dementia C536749