| OMIMPS:131300 |
Camurati-Engelmann disease |
| OMIM:621193 |
FICUS syndrome |
| OMIMPS:621264 |
Fetomaternal alloimmune thrombocytopenia |
| OMIM:621234 |
ICHAD syndrome |
| OMIMPS:620138 |
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
| OMIMPS:155310 |
Myopathy, visceral |
| OMIMPS:620235 |
Rhabdomyolysis, susceptibility to |
| OMIMPS:253300 |
Spinal muscular atrophy |
| OMIMPS:248200 |
Stargardt disease |
| OMIMPS:617982 |
Ververi-Brady syndrome |
| OMIM:621307 |
alsahan-harris syndrome |
| OMIM:621235 |
autoimmune disease, multisystem, infantile-onset, 5 |
| OMIM:621313 |
brain small vessel disease 4 |
| OMIM:621331 |
brain small vessel disease 5 with osteoporosis |
| OMIM:621251 |
cardiomyopathy, dilated, 1qq |
| OMIM:621237 |
cardiomyopathy, dilated, 2l |
| OMIM:621261 |
cardiomyopathy, dilated, 2m |
| OMIM:621270 |
cardiomyopathy, familial hypertrophic, 31 |
| OMIM:621252 |
cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome |
| OMIM:621296 |
catechol-o-methyltransferase activity, variation 1n |
| OMIM:621295 |
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 |
| OMIM:621195 |
combined oxidative phosphorylation deficiency 60 |
| OMIM:621225 |
congenital myopathy 26 |
| OMIM:621343 |
congenital myopathy 27 |
| OMIM:621337 |
cranioectodermal dysplasia 6 |
| OMIM:621192 |
craniofaciocardiohepatic syndrome |
| OMIM:621250 |
developmental and epileptic encephalopathy 118 |
| OMIM:621304 |
developmental and epileptic encephalopathy 119 |
| OMIM:621311 |
developmental dysplasia of the hip 4 |
| OMIM:621262 |
diamond-blackfan anemia 22 |
| OMIM:621344 |
dursun-ozgul neurodevelopmental syndrome |
| OMIM:621224 |
ectodermal dysplasia 17 with or without limb malformations |
| OMIM:245570 |
epilepsy, focal, with speech disorder and with or without impaired intellectual development |
| OMIM:621268 |
exudative vitreoretinopathy 8 |
| OMIM:621258 |
fanconi anemia, complementation group 10 |
| OMIM:621264 |
fetomaternal alloimmune thrombocytopenia 1 |
| OMIM:621266 |
fetomaternal alloimmune thrombocytopenia 2 |
| OMIM:621267 |
fetomaternal alloimmune thrombocytopenia 3 |
| OMIM:621220 |
guillouet-gordon syndrome |
| OMIM:621185 |
houge-janssens syndrome 4 |
| OMIM:621254 |
immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy |
| OMIM:621233 |
immunodysregulation with variable immunodeficiency and autoimmunity |
| OMIM:621333 |
infection-induced acute-onset axonal neuropathy |
| OMIM:621285 |
intellectual developmental disorder, autosomal dominant 76 |
| OMIM:621191 |
leukodystrophy and cerebellar atrophy |
| OMIM:621214 |
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy |
| OMIM:621212 |
li-takada-miyake syndrome |
| OMIM:621196 |
maturity-onset diabetes of the young, type 12 |
| OMIM:621328 |
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima |
| OMIM:621199 |
neurodevelopmental disorder with ataxia and brain abnormalities |
| OMIM:621263 |
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities |
| OMIM:621201 |
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures |
| OMIM:621302 |
neurodevelopmental disorder with seizures and joint laxity |
| OMIM:621265 |
nil-deshwar neurodevelopmental syndrome |
| OMIM:621277 |
oculovertebral syndrome |
| OMIM:621231 |
oocyte/zygote/embryo maturation arrest 23 |
| OMIM:621232 |
oocyte/zygote/embryo maturation arrest 24 |
| OMIM:621314 |
pompe disease, late-onset |
| OMIM:618428 |
popov-chang syndrome |
| OMIM:621248 |
pulmonary hypertension, primary, 7 |
| OMIM:301149 |
retinal dystrophy, x-linked, gardner-hardcastle type |
| OMIM:621280 |
retinitis pigmentosa 100 |
| OMIM:301148 |
retinitis pigmentosa 99 |
| OMIM:621236 |
rhabdomyolysis, susceptibility to, 2 |
| OMIM:621336 |
short sleep, familial natural, 3 |
| OMIM:621260 |
short-rib thoracic dysplasia 22 without polydactyly |
| OMIM:621226 |
spastic ataxia 11, autosomal dominant |
| OMIM:621209 |
spermatogenic failure 100 |
| OMIM:621269 |
spermatogenic failure 101 |
| OMIM:621194 |
spermatogenic failure 99 |
| OMIM:621345 |
spondyloepiphyseal dysplasia, holling type |
| OMIM:621259 |
stargardt disease 5 |
| OMIM:621325 |
ververi-brady syndrome 2 |
| OMIM:621332 |
wilms tumor 7 |