MONDO_bioportal_prefferred_name Find_IDs Find_Terms Annotation
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created at 2021-12-20 02:12:37 UTC
updated at 2021-12-22 07:05:13 UTC
MONDO_prefferred_names from the Bioportal site.
24,286 entries
Label
Id
nonsyndromic genetic deafness 19497.0
intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 14602.0
brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 13332.0
autosomal recessive limb-girdle muscular dystrophy type 2N 13162.0
celiac disease 5130.0
Rienhoff syndrome 14262.0
Bardet-Biedl syndrome 2 14432.0
chest wall lymphoma 3985.0
obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 20264.0
atrial septal defect, ostium secundum type 20434.0
obsolete yellow fever 4850.0
Alzheimer disease 12 12609.0
craniostenosis with congenital heart disease mental retardation 22889.0
hyperinsulinemic hypoglycaemia 18619.0
pseudohypoparathyroidism 19992.0