| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0979868 |
catechol-o-methyltransferase activity, variation 1n |
OMIM:621296 |
MONDO:equivalentTo |
catechol-o-methyltransferase activity, variation 1n |
|
|
| MONDO:0979881 |
infection-induced acute-onset axonal neuropathy |
OMIM:621333 |
MONDO:equivalentTo |
infection-induced acute-onset axonal neuropathy |
|
|
| MONDO:0979882 |
short sleep, familial natural, 3 |
OMIM:621336 |
MONDO:equivalentTo |
short sleep, familial natural, 3 |
|
MONDO:0044278 |
| MONDO:0979897 |
congenital myopathy 27 |
OMIM:621343 |
MONDO:equivalentTo |
congenital myopathy 27 |
|
MONDO:0019952 |
| MONDO:0979898 |
dursun-ozgul neurodevelopmental syndrome |
OMIM:621344 |
MONDO:equivalentTo |
dursun-ozgul neurodevelopmental syndrome |
|
|
| MONDO:0979899 |
spondyloepiphyseal dysplasia, holling type |
OMIM:621345 |
MONDO:equivalentTo |
spondyloepiphyseal dysplasia, holling type |
|
|
| MONDO:0979900 |
camurati-engelmann disease |
OMIMPS:131300 |
MONDO:equivalentTo |
Camurati-Engelmann disease |
|
|
| MONDO:0980699 |
neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech |
OMIM:621354 |
MONDO:equivalentTo |
neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech |
|
|
| MONDO:0980700 |
neurodevelopmental disorder with speech delay and behavioral abnormalities |
OMIM:621372 |
MONDO:equivalentTo |
neurodevelopmental disorder with speech delay and behavioral abnormalities |
|
|
| MONDO:0980701 |
molybdenum cofactor deficiency, type b2 |
OMIM:621373 |
MONDO:equivalentTo |
molybdenum cofactor deficiency, type b2 |
|
|
| MONDO:0980702 |
immune dysregulation, neurodevelopmental defects, and colitis |
OMIM:621375 |
MONDO:equivalentTo |
immune dysregulation, neurodevelopmental defects, and colitis |
|
|
| MONDO:0980703 |
harel-tora neurodevelopmental syndrome |
OMIM:621377 |
MONDO:equivalentTo |
harel-tora neurodevelopmental syndrome |
|
|
| MONDO:0980704 |
neurocardiorenal malformation syndrome |
OMIM:621379 |
MONDO:equivalentTo |
neurocardiorenal malformation syndrome |
|
|
| MONDO:0980705 |
congenital disorder of glycosylation, type iicc |
OMIM:621381 |
MONDO:equivalentTo |
congenital disorder of glycosylation, type iicc |
|
|
| MONDO:0980706 |
neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia |
OMIM:621382 |
MONDO:equivalentTo |
neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia |
|
|
| MONDO:0980707 |
valence-farazi cerebellar ataxia syndrome |
OMIM:621386 |
MONDO:equivalentTo |
valence-farazi cerebellar ataxia syndrome |
|
|
| MONDO:0980708 |
spermatogenic failure 102 |
OMIM:621387 |
MONDO:equivalentTo |
spermatogenic failure 102 |
|
MONDO:0004983 |
| MONDO:0980709 |
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities |
OMIM:621390 |
MONDO:equivalentTo |
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities |
|
|
| MONDO:0980710 |
neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities |
OMIM:621393 |
MONDO:equivalentTo |
neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities |
|
|
| MONDO:0980711 |
brain small vessel disease 6 with leukoencephalopathy |
OMIM:621394 |
MONDO:equivalentTo |
brain small vessel disease 6 with leukoencephalopathy |
|
|
| MONDO:0980712 |
dyschromatosis, ichthyosis, deafness, and atopic disease |
OMIM:621400 |
MONDO:equivalentTo |
dyschromatosis, ichthyosis, deafness, and atopic disease |
|
|
| MONDO:0980713 |
enhanced s-cone syndrome |
OMIMPS:268100 |
MONDO:equivalentTo |
Enhanced S-cone syndrome |
|
|
| MONDO:0980714 |
systemic lupus erythematosus |
OMIMPS:601744 |
MONDO:equivalentTo |
Systemic lupus erythematosus |
|
|
| MONDO:0980715 |
cardiac conduction disease with or without cardiomyoopathy |
OMIMPS:616117 |
MONDO:equivalentTo |
Cardiac conduction disease with or without cardiomyoopathy |
|
|
| MONDO:0980721 |
rhabdomyolysis, susceptibility to, 2 |
OMIM:621236 |
MONDO:equivalentTo |
rhabdomyolysis, susceptibility to, 2 |
|
MONDO:0979250 |
| MONDO:0980722 |
stargardt disease 5 |
OMIM:621259 |
MONDO:equivalentTo |
stargardt disease 5 |
|
MONDO:0019353 |
| MONDO:0980723 |
fetomaternal alloimmune thrombocytopenia 1 |
OMIM:621264 |
MONDO:equivalentTo |
fetomaternal alloimmune thrombocytopenia 1 |
|
MONDO:0019415 |
| MONDO:0980724 |
fetomaternal alloimmune thrombocytopenia 2 |
OMIM:621266 |
MONDO:equivalentTo |
fetomaternal alloimmune thrombocytopenia 2 |
|
MONDO:0019415 |
| MONDO:0980725 |
fetomaternal alloimmune thrombocytopenia 3 |
OMIM:621267 |
MONDO:equivalentTo |
fetomaternal alloimmune thrombocytopenia 3 |
|
MONDO:0019415 |
| MONDO:0980726 |
ververi-brady syndrome 2 |
OMIM:621325 |
MONDO:equivalentTo |
ververi-brady syndrome 2 |
|
MONDO:0979877 |
| MONDO:0980727 |
developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies |
OMIM:621384 |
MONDO:equivalentTo |
developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies |
|
|
| MONDO:0980728 |
developmental delay with sleep apnea |
OMIM:621402 |
MONDO:equivalentTo |
developmental delay with sleep apnea |
|
|
| MONDO:0980729 |
immunodeficiency 134 (epstein-barr virus-specific) |
OMIM:621405 |
MONDO:equivalentTo |
immunodeficiency 134 (epstein-barr virus-specific) |
|
MONDO:0021094 |
| MONDO:0980730 |
schizophrenia 17 |
OMIM:621407 |
MONDO:equivalentTo |
schizophrenia 17 |
|
|
| MONDO:0980731 |
van der woude syndrome |
OMIMPS:119300 |
MONDO:equivalentTo |
van der Woude syndrome |
|
|
| MONDO:0980732 |
pitt-hopkins syndrome |
OMIMPS:610954 |
MONDO:equivalentTo |
Pitt-Hopkins syndrome |
|
|