| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0975802 |
homocystinuria-megaloblastic anemia |
OMIMPS:236270 |
MONDO:equivalentTo |
Homocystinuria-megaloblastic anemia |
|
|
| MONDO:0975803 |
methylmalonic aciduria |
OMIMPS:251000 |
MONDO:equivalentTo |
Methylmalonic aciduria |
|
|
| MONDO:0975810 |
short stature with nonspecific skeletal abnormalities |
OMIMPS:616255 |
MONDO:equivalentTo |
Short stature with nonspecific skeletal abnormalities |
|
|
| MONDO:0975831 |
blood group, anton system |
OMIM:620975 |
MONDO:equivalentTo |
blood group, anton system |
|
|
| MONDO:0975844 |
acth-independent macronodular adrenal hyperplasia |
OMIMPS:219080 |
MONDO:equivalentTo |
ACTH-independent macronodular adrenal hyperplasia |
|
|
| MONDO:0975954 |
anemia, congenital, nonspherocytic hemolytic |
OMIMPS:300908 |
MONDO:equivalentTo |
Anemia, congenital, nonspherocytic hemolytic |
|
|
| MONDO:0976123 |
spermatogenic failure, x-linked, 9 |
OMIM:301137 |
MONDO:equivalentTo |
spermatogenic failure, x-linked, 9 |
|
MONDO:0004983 |
| MONDO:0976124 |
intellectual developmental disorder with polymicrogyria and seizures |
OMIM:621021 |
MONDO:equivalentTo |
intellectual developmental disorder with polymicrogyria and seizures |
|
|
| MONDO:0976125 |
neurodevelopmental disorder with speech or visual impairment and brain hypomyelination |
OMIM:621034 |
MONDO:equivalentTo |
neurodevelopmental disorder with speech or visual impairment and brain hypomyelination |
|
|
| MONDO:0976126 |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
OMIM:621060 |
MONDO:equivalentTo |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
|
|
| MONDO:0976127 |
muggenthaler-chowdhury-chioza syndrome |
OMIM:621063 |
MONDO:equivalentTo |
muggenthaler-chowdhury-chioza syndrome |
|
|
| MONDO:0976128 |
epilepsy, idiopathic generalized, susceptibility to, 19 |
OMIM:621064 |
MONDO:equivalentTo |
epilepsy, idiopathic generalized, susceptibility to, 19 |
|
MONDO:0005579 |
| MONDO:0976129 |
premature ovarian failure 26 |
OMIM:621065 |
MONDO:equivalentTo |
premature ovarian failure 26 |
|
MONDO:0019852 |
| MONDO:0976130 |
neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies |
OMIM:621067 |
MONDO:equivalentTo |
neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies |
|
|
| MONDO:0976131 |
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia |
OMIM:621068 |
MONDO:equivalentTo |
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia |
|
|
| MONDO:0976132 |
mitochondrial dna depletion syndrome 21 |
OMIM:621071 |
MONDO:equivalentTo |
mitochondrial DNA depletion syndrome 21 |
|
MONDO:0018158 |
| MONDO:0976133 |
myopathy, myofibrillar, 13, with rimmed vacuoles |
OMIM:621078 |
MONDO:equivalentTo |
myopathy, myofibrillar, 13, with rimmed vacuoles |
|
MONDO:0018943 |
| MONDO:0976134 |
heterotaxy, visceral, 13, autosomal |
OMIM:621079 |
MONDO:equivalentTo |
heterotaxy, visceral, 13, autosomal |
|
MONDO:0018677 |
| MONDO:0976135 |
heterotaxy, visceral, 14, autosomal |
OMIM:621080 |
MONDO:equivalentTo |
heterotaxy, visceral, 14, autosomal |
|
MONDO:0018677 |
| MONDO:0976136 |
ocular pterygium-digital keloid dysplasia syndrome |
OMIM:621091 |
MONDO:equivalentTo |
ocular pterygium-digital keloid dysplasia syndrome |
|
|
| MONDO:0976137 |
oocyte/zygote/embryo maturation arrest 22 |
OMIM:621093 |
MONDO:equivalentTo |
oocyte/zygote/embryo maturation arrest 22 |
|
MONDO:0014769 |
| MONDO:0976138 |
leukodystrophy, demyelinating, adult-onset |
OMIMPS:169500 |
MONDO:equivalentTo |
Leukodystrophy, demyelinating, adult-onset |
|
|
| MONDO:0976226 |
neuronopathy, distal hereditary motor, autosomal dominant 15 |
OMIM:621094 |
MONDO:equivalentTo |
neuronopathy, distal hereditary motor, autosomal dominant 15 |
|
MONDO:0015362 |
| MONDO:0976227 |
charcot-marie-tooth disease, axonal, type 2jj |
OMIM:621095 |
MONDO:equivalentTo |
charcot-marie-tooth disease, axonal, type 2jj |
|
MONDO:0015626 |
| MONDO:0976228 |
immunodeficiency 132b |
OMIM:621096 |
MONDO:equivalentTo |
immunodeficiency 132b |
|
MONDO:0021094 |
| MONDO:0976229 |
immunodeficiency 131 |
OMIM:621097 |
MONDO:equivalentTo |
immunodeficiency 131 |
|
MONDO:0021094 |
| MONDO:0976230 |
spondyloepimetaphyseal dysplasia, li-shao-li type |
OMIM:621099 |
MONDO:equivalentTo |
spondyloepimetaphyseal dysplasia, li-shao-li type |
|
|
| MONDO:0976231 |
intellectual developmental disorder, autosomal recessive 83 |
OMIM:621100 |
MONDO:equivalentTo |
intellectual developmental disorder, autosomal recessive 83 |
|
MONDO:0019502 |
| MONDO:0976232 |
perrault syndrome 7 |
OMIM:621101 |
MONDO:equivalentTo |
perrault syndrome 7 |
|
MONDO:0017312 |
| MONDO:0976233 |
neurodevelopmental disorder with progressive spasticity and brain abnormalities |
OMIM:621102 |
MONDO:equivalentTo |
neurodevelopmental disorder with progressive spasticity and brain abnormalities |
|
|
| MONDO:0976234 |
tubulointerstitial kidney disease, autosomal dominant 6 |
OMIM:621106 |
MONDO:equivalentTo |
tubulointerstitial kidney disease, autosomal dominant 6 |
|
MONDO:0000608 |
| MONDO:0976236 |
neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment |
OMIM:301142 |
MONDO:equivalentTo |
neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment |
|
|