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
n-acetylgalactosamine-4-sulfatase deficiencies D009087
n-acetylgalactosamine-4-sulfatase deficiency D009087
polydystrophic dwarfism D009087
syndrome, maroteaux-lamy D009087
conductive deafness - malformed external ear 9083
mucopolysaccharidosis type 3 a D009084
split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 9080
split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive; SHFM1D http://purl.obolibrary.org/obo/MONDO_0009080
complement component 6 deficiency 12908
complement component 6 deficiency, subtotal 12908
complement component 6 deficiency; C6D http://purl.obolibrary.org/obo/MONDO_0012908
n acetylglucosamine 6 sulfatase deficiency D009084
n acetylglucosamine 6 sulfate sulfatase deficiency D009084
reductase deficiencies, 7-dehydrocholesterol D019082
reductase deficiency, 7-dehydrocholesterol D019082