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Mondo Disease Ontology
MONDO
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Label
Id
Description
Baraitser-Winter cerebrofrontofacial syndrome
MONDO_0017579
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
MONDO_0010463
multiple congenital anomalies-hypotonia-seizures syndrome 2
MONDO_0010466
Kabuki syndrome 2
MONDO_0010465
aneurysm, intracranial berry, 5
MONDO_0010468
Xq27.3q28 duplication syndrome
MONDO_0010467
partial duplication of the long arm of chromosome X
MONDO_0017010
obsolete amyoplasia mandibulofacial dysostosis
MONDO_0022448
syndromic X-linked intellectual disability 17
MONDO_0010460
angiomyomatous hamartoma
MONDO_0022453
angiosarcoma of the scalp
MONDO_0022454
ankle defects short stature
MONDO_0022456
ankyloblepharon filiforme imperforate anus
MONDO_0022457
annular constricting bands
MONDO_0022458
amyotrophic lateral sclerosis type 15
MONDO_0010459
hypospadias 4, X-linked
MONDO_0010458
hypospadias
MONDO_0005345
Johanson-Blizzard syndrome
MONDO_0009479
combined immunodeficiency due to DOCK8 deficiency
MONDO_0009478
Stromme syndrome
MONDO_0009477