| 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:0020496 |
| 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 |
|
|
| MONDO:0980746 |
intellectual developmental disorder, autosomal recessive 84 |
OMIM:620401 |
MONDO:equivalentTo |
intellectual developmental disorder, autosomal recessive 84 |
|
|
| MONDO:0980747 |
brain small vessel disease 2b, autosomal recessive |
OMIM:621414 |
MONDO:equivalentTo |
brain small vessel disease 2b, autosomal recessive |
|
MONDO:0020496 |
| MONDO:0980748 |
intellectual developmental disorder, autosomal dominant 77 |
OMIM:621415 |
MONDO:equivalentTo |
intellectual developmental disorder, autosomal dominant 77 |
|
|
| MONDO:0980749 |
apolipoprotein a-ii deficiency |
OMIM:621417 |
MONDO:equivalentTo |
apolipoprotein a-ii deficiency |
|
|
| MONDO:0980750 |
angiotensin i-converting enzyme, plasma level of |
OMIM:621420 |
MONDO:equivalentTo |
angiotensin i-converting enzyme, plasma level of |
|
|
| MONDO:0980751 |
ramond-elliott neurodevelopmental syndrome |
OMIM:621421 |
MONDO:equivalentTo |
ramond-elliott neurodevelopmental syndrome |
|
|
| MONDO:0980752 |
leukoencephalopathy without lacunae, adult-onset |
OMIM:621424 |
MONDO:equivalentTo |
leukoencephalopathy without lacunae, adult-onset |
|
|
| MONDO:0980755 |
mitochondrial complex 4 deficiency, nuclear type 24 |
OMIM:621431 |
MONDO:equivalentTo |
mitochondrial complex 4 deficiency, nuclear type 24 |
|
MONDO:0033885 |
| MONDO:0980756 |
congenital myopathy 28 with rigid spine |
OMIM:621433 |
MONDO:equivalentTo |
congenital myopathy 28 with rigid spine |
|
MONDO:0019952 |
| MONDO:0980757 |
periodontitis, aggressive |
OMIMPS:170650 |
MONDO:equivalentTo |
Periodontitis, aggressive |
|
|
| MONDO:0980758 |
xeroderma pigmentosum |
OMIMPS:278700 |
MONDO:equivalentTo |
Xeroderma pigmentosum |
|
|
| MONDO:0980759 |
follicular lymphoma, susceptibility to |
OMIMPS:613024 |
MONDO:equivalentTo |
Follicular lymphoma, susceptibility to |
|
|
| MONDO:0980760 |
pregnancy loss, recurrent |
OMIMPS:614389 |
MONDO:equivalentTo |
Pregnancy loss, recurrent |
|
|
| MONDO:0980761 |
autoinflammation and autoimmunity, systemic, with immune dysregulation |
OMIMPS:616414 |
MONDO:equivalentTo |
Autoinflammation and autoimmunity, systemic, with immune dysregulation |
|
|
| MONDO:0980763 |
dental radicular dysplasia |
OMIM:621434 |
MONDO:equivalentTo |
dental radicular dysplasia |
|
|
| MONDO:0980764 |
scoliosis, isolated, susceptibility to |
OMIMPS:181800 |
MONDO:equivalentTo |
Scoliosis, isolated, susceptibility to |
|
|
| MONDO:0980935 |
microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia |
OMIM:621436 |
MONDO:equivalentTo |
microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia |
|
|
| MONDO:0980936 |
neutropenia, severe congenital, 12, autosomal recessive |
OMIM:621439 |
MONDO:equivalentTo |
neutropenia, severe congenital, 12, autosomal recessive |
|
MONDO:0018542 |
| MONDO:0980937 |
oculopharyngodistal myopathy 5 |
OMIM:621446 |
MONDO:equivalentTo |
oculopharyngodistal myopathy 5 |
|
MONDO:0025193 |
| MONDO:0980938 |
osteopetrosis, autosomal dominant 4 |
OMIM:621449 |
MONDO:equivalentTo |
osteopetrosis, autosomal dominant 4 |
|
MONDO:0020645 |
| MONDO:0980939 |
basal ganglia calcification, idiopathic, 11, autosomal recessive |
OMIM:621452 |
MONDO:equivalentTo |
basal ganglia calcification, idiopathic, 11, autosomal recessive |
|
MONDO:0008947 |
| MONDO:0980940 |
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech |
OMIM:621455 |
MONDO:equivalentTo |
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech |
|
|
| MONDO:0980941 |
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures |
OMIM:621456 |
MONDO:equivalentTo |
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures |
|
|
| MONDO:0980942 |
intellectual developmental disorder with seizures and dysmorphic facies |
OMIM:621457 |
MONDO:equivalentTo |
intellectual developmental disorder with seizures and dysmorphic facies |
|
|
| MONDO:0980943 |
dentin dysplasia, type i |
OMIMPS:125400 |
MONDO:equivalentTo |
Dentin dysplasia, type I |
|
|
| MONDO:0980944 |
nemaline myopathy |
OMIMPS:256030 |
MONDO:equivalentTo |
Nemaline myopathy |
|
|
| MONDO:0980945 |
drug metabolism, altered (select examples) |
OMIMPS:608902 |
MONDO:equivalentTo |
Drug metabolism, altered (select examples) |
|
|