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
carbohydrate deficient glycoprotein syndrome type Ig 11783
specific language impairment 3 11780
specific language impairment 3; SLI3 http://purl.obolibrary.org/obo/MONDO_0011780
specific language impairment quantitative trait locus on chromosome 13 11780
infantile convulsions and choreoathetosis 11178
mannosyltransferase 8 deficiency 11783
paroxysmal kinesigenic dyskinesia and infantile convulsions 11178
paroxysmal kinesigenic dyskinesia with infantile convulsions 11178
convulsions, familial infantile, with paroxysmal choreoathetosis 11178
convulsions, familial infantile, with paroxysmal choreoathetosis; ICCA http://purl.obolibrary.org/obo/MONDO_0011178
autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP 11787
autosomal recessive limb-girdle muscular dystrophy type 2I 11787
muscular dystrophy limb-girdle type 2I 11787
muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-Related http://purl.obolibrary.org/obo/MONDO_0011787
muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related 11787