MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
carnitine palmitoyl transferase II deficiency, severe infantile form 10914
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form 10914
Carnitine palmitoyl transferase deficiency type 2, severe infantile form 10914
Wolman's or triglyceride storage type III disease 19148
aggregate myopathies, tubular D020914
aggregate myopathy, tubular D020914
childhood brainstem tumor 2914
pediatric brainstem tumor 2914
chondrodysplasia, blomstrand type C537914
Meier-Gorlin syndrome type 1 9143
torsion dystonia type 2 9141
Usher syndrome, type 4 29141
usher syndrome, type 4 29141.0
Usher syndrome, type IV 29141
congenital fiber type disproportion myopathy D020914