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migrate_omim.md

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OMIM

Interactive FlatGithub table

Migratable terms

mondo_id mondo_label xref xref_source original_label definition parents
ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT= A IAO:0000115
MONDO:0958222 maple syrup urine disease, iia 1b OMIM:620698 MONDO:equivalentTo maple syrup urine disease, iia 1b
MONDO:0958223 maple syrup urine disease, iia 2 OMIM:620699 MONDO:equivalentTo maple syrup urine disease, iia 2
MONDO:0958224 encephalopathy, porphyria-related OMIM:620704 MONDO:equivalentTo encephalopathy, porphyria-related
MONDO:0958225 epidermolytic hyperkeratosis 2b, autosomal recessive OMIM:620707 MONDO:equivalentTo epidermolytic hyperkeratosis 2b, autosomal recessive
MONDO:0958226 leukoencephalopathy, porphyria-related OMIM:620711 MONDO:equivalentTo leukoencephalopathy, porphyria-related
MONDO:0958227 polydactyly-macrocephaly syndrome OMIM:620712 MONDO:equivalentTo polydactyly-macrocephaly syndrome
MONDO:0958228 deafness, autosomal recessive 122 OMIM:620714 MONDO:equivalentTo deafness, autosomal recessive 122
MONDO:0958229 bleeding disorder, vascular-type OMIM:620715 MONDO:equivalentTo bleeding disorder, vascular-type
MONDO:0958230 orofaciodigital syndrome 20 OMIM:620718 MONDO:equivalentTo orofaciodigital syndrome 20
MONDO:0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism OMIM:620719 MONDO:equivalentTo neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
MONDO:0958232 deafness, autosomal dominant 90 OMIM:620722 MONDO:equivalentTo deafness, autosomal dominant 90
MONDO:0958233 bethlem myopathy 1b OMIM:620725 MONDO:equivalentTo bethlem myopathy 1b
MONDO:0958234 bethlem myopathy 1c OMIM:620726 MONDO:equivalentTo bethlem myopathy 1c
MONDO:0958235 ullrich congenital muscular dystrophy 1b OMIM:620727 MONDO:equivalentTo ullrich congenital muscular dystrophy 1b
MONDO:0958236 ullrich congenital muscular dystrophy 1c OMIM:620728 MONDO:equivalentTo ullrich congenital muscular dystrophy 1c
MONDO:0958237 hyperferritinemia OMIM:620729 MONDO:equivalentTo hyperferritinemia
MONDO:0958238 hyperemesis gravidarum, susceptibility to OMIM:620730 MONDO:equivalentTo hyperemesis gravidarum, susceptibility to
MONDO:0958239 microphthalmia/coloboma 11 OMIM:620731 MONDO:equivalentTo microphthalmia/coloboma 11
MONDO:0958240 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities OMIM:620732 MONDO:equivalentTo neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
MONDO:0958241 cardiomyopathy, familial hypertrophic, 30, atrial OMIM:620734 MONDO:equivalentTo cardiomyopathy, familial hypertrophic, 30, atrial
MONDO:0958242 spermatogenic failure 90 OMIM:620744 MONDO:equivalentTo spermatogenic failure 90