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
xeroderma pigmentosum, complementation group 1 C536765
mucolipidosis III, complementation group c C565367
woolly hair, congenital C536745
nystagmus with congenital zonular cataract C536727
pachygyria joint contractures facial abnormalities C536712
sagittal craniosynostosis, dandy-walker malformation, and hydrocephalus C536790
yemenite (warburg) deaf-blind hypopigmentation syndrome C536771
pancreatic hypoplasia diabetes heart disease C536714
benign hyperostosis corticalis generalisata C536748
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
Zeta-associated-protein 70 deficiency C536722
carnitine uptake deficiency C536778
systemic carnitine deficiency C536778