Skip to content

Migrate omim

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:0978291 retinitis pigmentosa 99 OMIM:301148 MONDO:equivalentTo retinitis pigmentosa 99 MONDO:0019200
MONDO:0978292 retinal dystrophy, x-linked, gardner-hardcastle type OMIM:301149 MONDO:equivalentTo retinal dystrophy, x-linked, gardner-hardcastle type
MONDO:0978293 houge-janssens syndrome 4 OMIM:621185 MONDO:equivalentTo houge-janssens syndrome 4 MONDO:0957553
MONDO:0978294 leukodystrophy and cerebellar atrophy OMIM:621191 MONDO:equivalentTo leukodystrophy and cerebellar atrophy
MONDO:0978295 craniofaciocardiohepatic syndrome OMIM:621192 MONDO:equivalentTo craniofaciocardiohepatic syndrome
MONDO:0978296 ficus syndrome OMIM:621193 MONDO:equivalentTo FICUS syndrome
MONDO:0978297 spermatogenic failure 99 OMIM:621194 MONDO:equivalentTo spermatogenic failure 99 MONDO:0004983
MONDO:0978298 combined oxidative phosphorylation deficiency 60 OMIM:621195 MONDO:equivalentTo combined oxidative phosphorylation deficiency 60 MONDO:0000732
MONDO:0978299 maturity-onset diabetes of the young, type 12 OMIM:621196 MONDO:equivalentTo maturity-onset diabetes of the young, type 12 MONDO:0018911
MONDO:0978300 neurodevelopmental disorder with ataxia and brain abnormalities OMIM:621199 MONDO:equivalentTo neurodevelopmental disorder with ataxia and brain abnormalities
MONDO:0978301 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures OMIM:621201 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures
MONDO:0978302 spermatogenic failure 100 OMIM:621209 MONDO:equivalentTo spermatogenic failure 100 MONDO:0004983
MONDO:0978303 li-takada-miyake syndrome OMIM:621212 MONDO:equivalentTo li-takada-miyake syndrome
MONDO:0978304 myopathy, visceral OMIMPS:155310 MONDO:equivalentTo Myopathy, visceral
MONDO:0979226 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy OMIM:621214 MONDO:equivalentTo leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
MONDO:0979227 guillouet-gordon syndrome OMIM:621220 MONDO:equivalentTo guillouet-gordon syndrome
MONDO:0979228 ectodermal dysplasia 17 with or without limb malformations OMIM:621224 MONDO:equivalentTo ectodermal dysplasia 17 with or without limb malformations
MONDO:0979229 congenital myopathy 26 OMIM:621225 MONDO:equivalentTo congenital myopathy 26 MONDO:0019952
MONDO:0979230 spastic ataxia 11, autosomal dominant OMIM:621226 MONDO:equivalentTo spastic ataxia 11, autosomal dominant MONDO:0017845
MONDO:0979231 oocyte/zygote/embryo maturation arrest 23 OMIM:621231 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 23 MONDO:0014769
MONDO:0979232 oocyte/zygote/embryo maturation arrest 24 OMIM:621232 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 24 MONDO:0014769
MONDO:0979233 immunodysregulation with variable immunodeficiency and autoimmunity OMIM:621233 MONDO:equivalentTo immunodysregulation with variable immunodeficiency and autoimmunity
MONDO:0979234 ichad syndrome OMIM:621234 MONDO:equivalentTo ICHAD syndrome
MONDO:0979235 autoimmune disease, multisystem, infantile-onset, 5 OMIM:621235 MONDO:equivalentTo autoimmune disease, multisystem, infantile-onset, 5 MONDO:0000213
MONDO:0979236 cardiomyopathy, dilated, 2l OMIM:621237 MONDO:equivalentTo cardiomyopathy, dilated, 2l MONDO:0016333
MONDO:0979237 pulmonary hypertension, primary, 7 OMIM:621248 MONDO:equivalentTo pulmonary hypertension, primary, 7
MONDO:0979238 developmental and epileptic encephalopathy 118 OMIM:621250 MONDO:equivalentTo developmental and epileptic encephalopathy 118 MONDO:0100062
MONDO:0979239 cardiomyopathy, dilated, 1qq OMIM:621251 MONDO:equivalentTo cardiomyopathy, dilated, 1qq
MONDO:0979240 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome OMIM:621252 MONDO:equivalentTo cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome
MONDO:0979241 fanconi anemia, complementation group 10 OMIM:621258 MONDO:equivalentTo fanconi anemia, complementation group 10 MONDO:0100238
MONDO:0979242 short-rib thoracic dysplasia 22 without polydactyly OMIM:621260 MONDO:equivalentTo short-rib thoracic dysplasia 22 without polydactyly MONDO:0018770
MONDO:0979243 cardiomyopathy, dilated, 2m OMIM:621261 MONDO:equivalentTo cardiomyopathy, dilated, 2m
MONDO:0979244 diamond-blackfan anemia 22 OMIM:621262 MONDO:equivalentTo diamond-blackfan anemia 22 MONDO:0015253
MONDO:0979245 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities OMIM:621263 MONDO:equivalentTo neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
MONDO:0979246 nil-deshwan neurodevelopmental syndrome OMIM:621265 MONDO:equivalentTo nil-deshwan neurodevelopmental syndrome
MONDO:0979247 stargardt disease OMIMPS:248200 MONDO:equivalentTo Stargardt disease
MONDO:0979248 spinal muscular atrophy OMIMPS:253300 MONDO:equivalentTo Spinal muscular atrophy
MONDO:0979249 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis OMIMPS:620138 MONDO:equivalentTo Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
MONDO:0979250 rhabdomyolysis, susceptibility to OMIMPS:620235 MONDO:equivalentTo Rhabdomyolysis, susceptibility to