JSON

All terms in MONDO

Label Id Description
ciliary dyskinesia, primary, 43 MONDO_0032874
familial Alzheimer-like prion disease MONDO_0017233
Kleefstra syndrome due to 9q34 microdeletion MONDO_0019896
Kleefstra syndrome 1 MONDO_0027407
short stature and microcephaly with genital anomalies MONDO_0032875
distal monosomy 4q MONDO_0019895
distal monosomy 14q MONDO_0019898
ciliary dyskinesia, primary, 42 MONDO_0032872
familial omphalocele syndrome with facial dysmorphism MONDO_0017235
rapidly progressive glomerulonephritis MONDO_0017236
retinitis pigmentosa 87 with choroidal involvement MONDO_0032873
distal monosomy 12q MONDO_0019897
intellectual developmental disorder with short stature and behavioral abnormalities MONDO_0032870
distal monosomy 7p MONDO_0019892
leukodystrophy, hypomyelinating, 19, transient infantile MONDO_0032871
monosomy 22 MONDO_0019891
autosomal semi-dominant severe lipodystrophic laminopathy MONDO_0017230
obsolete non-distal monosomy 7p MONDO_0019894
erythropoietic uroporphyria associated with myeloid malignancy MONDO_0017231
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome MONDO_0017232