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All terms in MONDO

Label Id Description
atresia of small intestine MONDO_0009476
isovaleric acidemia MONDO_0009475
isovaleric acid, inability to smell MONDO_0009474
primary ciliary dyskinesia 1 MONDO_0009484
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO_0010473
Kapur-Toriello syndrome MONDO_0009483
developmental and epileptic encephalopathy, 36 MONDO_0010472
hypogonadotropic hypogonadism 3 with or without anosmia MONDO_0009482
X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO_0010475
Jumping Frenchmen of Maine MONDO_0009481
linear skin defects with multiple congenital anomalies 2 MONDO_0010474
Joubert syndrome with oculorenal defect MONDO_0009480
blepharophimosis - intellectual disability syndrome, MKB type MONDO_0010477
Ohdo syndrome and variants MONDO_0000734
neurodegeneration with brain iron accumulation 5 MONDO_0010476
Charcot-Marie-Tooth disease X-linked dominant 6 MONDO_0010479
SLC35A2-congenital disorder of glycosylation MONDO_0010478
Cornelia de Lange syndrome 5 MONDO_0010471
obsolete Baratela-Scott syndrome MONDO_0010470
amyloidosis bronchopulmonary MONDO_0022444