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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
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus C536790
sensory neuropathy with deafness and dementia C536749
margarita island type ectodermal dysplasia C536726
chromosome 21, uniparental disomy of C536794
mental retardation unusual facies hypothyroidism C536717
fibromatosis, gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly C536725
Radial-ulnar hypoplasia with bone marrow failure and-or leukemia C536751
fatal infantile, with olivopontocerebellar hypoplasia encephalopathy C536716
mental retardation, x-linked, with congenital contractures and low fingertip arches C536703
type 9 xeroderma pigmentosum C536765
variant type xeroderma pigmentosum C536766
duplication xpter xq13 C536731
trisomy xpter xq13 C536731
trisomy xpter xq13 x chromosome C536731
sensorineural deafness with pituitary dwarfism C536710