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Mondo Disease Ontology
MONDO
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Label
Id
Description
holoprosencephaly-craniosynostosis syndrome
MONDO_0011059
microcephaly-cardiac defect-lung malsegmentation syndrome
MONDO_0011050
microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
MONDO_0035027
amelia cleft lip palate hydrocephalus iris coloboma
MONDO_0011052
lethal short-limb skeletal dysplasia, Al Gazali type
MONDO_0011051
autosomal recessive amelia
MONDO_0011054
intellectual disability-sparse hair-brachydactyly syndrome
MONDO_0011053
ectodermal dysplasia arthrogryposis diabetes mellitus
MONDO_0023045
ectodermal dysplasia blindness
MONDO_0023046
ectodermal dysplasia neurosensory deafness
MONDO_0023048
ectodermal dysplasia Bartalos type
MONDO_0023040
ectodermal dysplasia Berlin type
MONDO_0023041
ectodermal dysplasia margarita type
MONDO_0023042
ectodermal dysplasia alopecia preaxial polydactyly
MONDO_0023043
autosomal recessive nonsyndromic hearing loss 12
MONDO_0011067
Charcot-Marie-Tooth disease type 4B1
MONDO_0011066
cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
MONDO_0011069
type 1 diabetes mellitus 12
MONDO_0011068
frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
MONDO_0035018
chorea, remitting, with nystagmus and cataract
MONDO_0011061