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