| 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 |
|
|