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
woolly hair, congenital C536745
t-cell immunodeficiency, congenital alopecia, and nail dystrophy C536781
x-linked, with congenital contractures and low fingertip arches mental retardation C536703
oculomotor, with congenital contractures and muscle atrophy apraxia C536703
nystagmus with congenital zonular cataract C536727
pachygyria joint contractures facial abnormalities C536712
benign hyperostosis corticalis generalisata C536748
sagittal, with dandy-walker malformation and hydrocephalus craniosynostosis C536790
sagittal craniosynostosis, dandy-walker malformation, and hydrocephalus C536790
yemenite (warburg) deaf-blind hypopigmentation syndrome C536771
selective t-cell defect C536722
Zeta-associated-protein 70 deficiency C536722
carnitine uptake deficiency C536778
systemic carnitine deficiency C536778
pancreatic hypoplasia diabetes heart disease C536714