| OMIMPS:219080 |
ACTH-independent macronodular adrenal hyperplasia |
| OMIMPS:300908 |
Anemia, congenital, nonspherocytic hemolytic |
| OMIMPS:236270 |
Homocystinuria-megaloblastic anemia |
| OMIMPS:169500 |
Leukodystrophy, demyelinating, adult-onset |
| OMIMPS:251000 |
Methylmalonic aciduria |
| OMIMPS:616255 |
Short stature with nonspecific skeletal abnormalities |
| OMIM:620990 |
acth-independent macronodular adrenal hyperplasia 3 |
| OMIM:620975 |
blood group, anton system |
| OMIM:621095 |
charcot-marie-tooth disease, axonal, type 2jj |
| OMIM:621064 |
epilepsy, idiopathic generalized, susceptibility to, 19 |
| OMIM:621079 |
heterotaxy, visceral, 13, autosomal |
| OMIM:621080 |
heterotaxy, visceral, 14, autosomal |
| OMIM:620952 |
homocystinuria-megaloblastic anemia, cbld type |
| OMIM:621097 |
immunodeficiency 131 |
| OMIM:621096 |
immunodeficiency 132b |
| OMIM:621021 |
intellectual developmental disorder with polymicrogyria and seizures |
| OMIM:621100 |
intellectual developmental disorder, autosomal recessive 83 |
| OMIM:621061 |
leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical |
| OMIM:620953 |
methylmalonic aciduria, cbld type |
| OMIM:621071 |
mitochondrial DNA depletion syndrome 21 |
| OMIM:621063 |
muggenthaler-chowdhury-chioza syndrome |
| OMIM:621078 |
myopathy, myofibrillar, 13, with rimmed vacuoles |
| OMIM:301142 |
neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment |
| OMIM:621068 |
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia |
| OMIM:621060 |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
| OMIM:621067 |
neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies |
| OMIM:621102 |
neurodevelopmental disorder with progressive spasticity and brain abnormalities |
| OMIM:621034 |
neurodevelopmental disorder with speech or visual impairment and brain hypomyelination |
| OMIM:621094 |
neuronopathy, distal hereditary motor, autosomal dominant 15 |
| OMIM:621091 |
ocular pterygium-digital keloid dysplasia syndrome |
| OMIM:621093 |
oocyte/zygote/embryo maturation arrest 22 |
| OMIM:621101 |
perrault syndrome 7 |
| OMIM:621065 |
premature ovarian failure 26 |
| OMIM:301137 |
spermatogenic failure, x-linked, 9 |
| OMIM:621099 |
spondyloepimetaphyseal dysplasia, li-shao-li type |
| OMIM:621106 |
tubulointerstitial kidney disease, autosomal dominant 6 |