| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0981029 |
drug metabolism, altered, cyp2a6-related |
OMIM:621426 |
MONDO:equivalentTo |
drug metabolism, altered, cyp2a6-related |
|
|
| MONDO:0981170 |
neurodevelopmental disorder, x-linked, with poor or absent speech and behavioral abnormalities |
OMIM:301164 |
MONDO:equivalentTo |
neurodevelopmental disorder, x-linked, with poor or absent speech and behavioral abnormalities |
|
|
| MONDO:0981171 |
retinal dystrophy, zeitz-han type |
OMIM:621558 |
MONDO:equivalentTo |
retinal dystrophy, zeitz-han type |
|
|
| MONDO:0981172 |
dentin dysplasia, type 1c |
OMIM:621559 |
MONDO:equivalentTo |
dentin dysplasia, type 1c |
|
MONDO:0007436 |
| MONDO:0981173 |
retinitis pigmentosa 102 |
OMIM:621560 |
MONDO:equivalentTo |
retinitis pigmentosa 102 |
|
MONDO:0019200 |
| MONDO:0981174 |
retinitis pigmentosa 103 |
OMIM:621561 |
MONDO:equivalentTo |
retinitis pigmentosa 103 |
|
MONDO:0019200 |
| MONDO:0981175 |
retinitis pigmentosa 104 |
OMIM:621562 |
MONDO:equivalentTo |
retinitis pigmentosa 104 |
|
MONDO:0019200 |
| MONDO:0981176 |
retinitis pigmentosa 105 |
OMIM:621563 |
MONDO:equivalentTo |
retinitis pigmentosa 105 |
|
MONDO:0019200 |
| MONDO:0981177 |
retinitis pigmentosa 106 |
OMIM:621564 |
MONDO:equivalentTo |
retinitis pigmentosa 106 |
|
MONDO:0019200 |
| MONDO:0981178 |
yu-kury neurodevelopmental syndrome |
OMIM:621565 |
MONDO:equivalentTo |
yu-kury neurodevelopmental syndrome |
|
|
| MONDO:0981179 |
davis-wells syndrome |
OMIM:621566 |
MONDO:equivalentTo |
davis-wells syndrome |
|
|
| MONDO:0981225 |
congenital disorder of glycosylation, type ibb |
OMIM:621567 |
MONDO:equivalentTo |
congenital disorder of glycosylation, type ibb |
|
|
| MONDO:0981226 |
cornelia lange lange syndrome 7 |
OMIM:621570 |
MONDO:equivalentTo |
cornelia lange lange syndrome 7 |
|
MONDO:0016033 |
| MONDO:0981228 |
retinitis pigmentosa 107 |
OMIM:621587 |
MONDO:equivalentTo |
retinitis pigmentosa 107 |
|
MONDO:0019200 |
| MONDO:0981232 |
mendez-johnson immunoneurologic syndrome |
OMIM:621585 |
MONDO:equivalentTo |
mendez-johnson immunoneurologic syndrome |
|
|
| MONDO:0981233 |
epidermodysplasia verruciformis, susceptibility to, 6 |
OMIM:621588 |
MONDO:equivalentTo |
epidermodysplasia verruciformis, susceptibility to, 6 |
|
MONDO:0100043 |
| MONDO:0981303 |
cardiomyopathy, dilated, 2n |
OMIM:621595 |
MONDO:equivalentTo |
cardiomyopathy, dilated, 2n |
|
MONDO:0016333 |
| MONDO:0981304 |
paget disease of bone 7, early-onset |
OMIM:621600 |
MONDO:equivalentTo |
paget disease of bone 7, early-onset |
|
MONDO:0005382 |
| MONDO:0981305 |
developmental and epileptic encephalopathy 122 |
OMIM:621608 |
MONDO:equivalentTo |
developmental and epileptic encephalopathy 122 |
|
|
| MONDO:0981306 |
autoimmune lymphoproliferative syndrome |
OMIMPS:601859 |
MONDO:equivalentTo |
Autoimmune lymphoproliferative syndrome |
|
|
| MONDO:0981343 |
damseh-danson neurodevelopmental disorder |
OMIM:621591 |
MONDO:equivalentTo |
damseh-danson neurodevelopmental disorder |
|
|
| MONDO:0981344 |
inflammatory bowel disease 32, autosomal recessive |
OMIM:621601 |
MONDO:equivalentTo |
inflammatory bowel disease 32, autosomal recessive |
|
MONDO:0005265 |
| MONDO:0981345 |
spermatogenic failure 103 |
OMIM:621619 |
MONDO:equivalentTo |
spermatogenic failure 103 |
|
|
| MONDO:0981346 |
oocyte/zygote/embryo maturation arrest 26 |
OMIM:621620 |
MONDO:equivalentTo |
oocyte/zygote/embryo maturation arrest 26 |
|
MONDO:0014769 |
| MONDO:0981347 |
neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections |
OMIM:621622 |
MONDO:equivalentTo |
neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections |
|
|
| MONDO:0981348 |
intellectual developmental disorder, autosomal dominant 78 |
OMIM:621627 |
MONDO:equivalentTo |
intellectual developmental disorder, autosomal dominant 78 |
|
|
| MONDO:0981350 |
neurodevelopmental disorder with intellectual, visual, and language impairment |
OMIM:621635 |
MONDO:equivalentTo |
neurodevelopmental disorder with intellectual, visual, and language impairment |
|
|
| MONDO:0981351 |
retinitis pigmentosa 108 |
OMIM:621637 |
MONDO:equivalentTo |
retinitis pigmentosa 108 |
|
|
| MONDO:0981353 |
glycolic aciduria, isolated |
OMIM:621642 |
MONDO:equivalentTo |
glycolic aciduria, isolated |
|
|
| MONDO:0981354 |
neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment |
OMIM:621643 |
MONDO:equivalentTo |
neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment |
|
|
| MONDO:0981355 |
kyphomelic dysplasia, itai-ikegawa type |
OMIM:621644 |
MONDO:equivalentTo |
kyphomelic dysplasia, itai-ikegawa type |
|
|
| MONDO:0981382 |
movement disorder, congenital nonprogressive, with ataxia and eye movement abnormalities |
OMIM:621639 |
MONDO:equivalentTo |
movement disorder, congenital nonprogressive, with ataxia and eye movement abnormalities |
|
|
| MONDO:0981383 |
lung-brain developmental disorder |
OMIM:621645 |
MONDO:equivalentTo |
lung-brain developmental disorder |
|
|
| MONDO:0981384 |
intellectual developmental disorder, autosomal recessive 85 |
OMIM:621649 |
MONDO:equivalentTo |
intellectual developmental disorder, autosomal recessive 85 |
|
MONDO:0019502 |
| MONDO:0981385 |
spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia |
OMIM:621650 |
MONDO:equivalentTo |
spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia |
|
|
| MONDO:0981386 |
hyposulfatemia with skeletal dysplasia |
OMIM:621654 |
MONDO:equivalentTo |
hyposulfatemia with skeletal dysplasia |
|
|
| MONDO:0981387 |
retinitis pigmentosa 109 |
OMIM:621656 |
MONDO:equivalentTo |
retinitis pigmentosa 109 |
|
|
| MONDO:0981388 |
cortical dysplasia, complex, with other brain malformations 17 |
OMIM:621667 |
MONDO:equivalentTo |
cortical dysplasia, complex, with other brain malformations 17 |
|
MONDO:0000904 |
| MONDO:0981424 |
congenital fibrosis of extraocular muscles 3a, syndromic 1, with anosmia and developmental delay |
OMIM:621655 |
MONDO:equivalentTo |
congenital fibrosis of extraocular muscles 3a, syndromic 1, with anosmia and developmental delay |
|
MONDO:0007614 |
| MONDO:0981425 |
congenital fibrosis of extraocular muscles 3a, syndromic 2, with joint contractures, developmental delay, and peripheral neuropathy |
OMIM:621666 |
MONDO:equivalentTo |
congenital fibrosis of extraocular muscles 3a, syndromic 2, with joint contractures, developmental delay, and peripheral neuropathy |
|
MONDO:0007614 |
| MONDO:0981426 |
immune dysregulation with autoimmunity, autoinflammation, and immunodeficiency |
OMIM:621671 |
MONDO:equivalentTo |
immune dysregulation with autoimmunity, autoinflammation, and immunodeficiency |
|
|
| MONDO:0981427 |
lemire-marshall-drivas-chitayat syndrome |
OMIM:621676 |
MONDO:equivalentTo |
lemire-marshall-drivas-chitayat syndrome |
|
|
| MONDO:0981428 |
multiple endocrine neoplasia, type 5 |
OMIM:621678 |
MONDO:equivalentTo |
multiple endocrine neoplasia, type 5 |
|
MONDO:0017169 |
| MONDO:0981429 |
pheochromocytoma/paraganglioma syndrome 8 |
OMIM:621687 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 8 |
|
MONDO:0017366 |
| MONDO:0981430 |
acrofrontofacionasal dysostosis |
OMIMPS:201180 |
MONDO:equivalentTo |
Acrofrontofacionasal dysostosis |
|
|
| MONDO:0981437 |
parkinson disease 27, autosomal recessive early-onset |
OMIM:621693 |
MONDO:equivalentTo |
parkinson disease 27, autosomal recessive early-onset |
|
MONDO:0005180 |
| MONDO:0981438 |
neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities |
OMIM:621694 |
MONDO:equivalentTo |
neurodegeneration, childhood-onset, with movement disorders, cognitive decline, and brain abnormalities |
|
|
| MONDO:0981439 |
arthrogryposis multiplex congenita 8, neurogenic type |
OMIM:621695 |
MONDO:equivalentTo |
arthrogryposis multiplex congenita 8, neurogenic type |
|
MONDO:0015168 |
| MONDO:0981522 |
systemic lupus erythematosus 19 |
OMIM:301172 |
MONDO:equivalentTo |
systemic lupus erythematosus 19 |
|
MONDO:0007915 |
| MONDO:0981523 |
developmental and epileptic encephalopathy 42b |
OMIM:621692 |
MONDO:equivalentTo |
developmental and epileptic encephalopathy 42b |
|
MONDO:0100062 |
| MONDO:0981524 |
magis syndrome |
OMIM:621707 |
MONDO:equivalentTo |
MAGIS syndrome |
|
|
| MONDO:0981525 |
neurodevelopmental disorder with seizures and cerebellar hypoplasia |
OMIM:621710 |
MONDO:equivalentTo |
neurodevelopmental disorder with seizures and cerebellar hypoplasia |
|
|
| MONDO:0981526 |
oocyte/zygote/embryo maturation arrest 27 |
OMIM:621713 |
MONDO:equivalentTo |
oocyte/zygote/embryo maturation arrest 27 |
|
MONDO:0014769 |
| MONDO:0981527 |
progressive macrocephaly-brain edema disorder |
OMIM:621716 |
MONDO:equivalentTo |
progressive macrocephaly-brain edema disorder |
|
|
| MONDO:0981528 |
hydatidiform mole, recurrent, 5 |
OMIM:621720 |
MONDO:equivalentTo |
hydatidiform mole, recurrent, 5 |
|
MONDO:0006248 |
| MONDO:0981529 |
hydatidiform mole, recurrent, 6 |
OMIM:621721 |
MONDO:equivalentTo |
hydatidiform mole, recurrent, 6 |
|
MONDO:0006248 |
| MONDO:0981530 |
camptodactyly, impaired intellectual development, and facial dysmorphism syndrome |
OMIM:621722 |
MONDO:equivalentTo |
camptodactyly, impaired intellectual development, and facial dysmorphism syndrome |
|
|
| MONDO:0981531 |
deafness, autosomal dominant 55 |
OMIM:621728 |
MONDO:equivalentTo |
deafness, autosomal dominant 55 |
|
|
| MONDO:0981532 |
neutropenia, severe congenital, 14, autosomal recessive |
OMIM:621729 |
MONDO:equivalentTo |
neutropenia, severe congenital, 14, autosomal recessive |
|
MONDO:0018542 |
| MONDO:0981533 |
oocyte/zygote/embryo maturation arrest 28 |
OMIM:621730 |
MONDO:equivalentTo |
oocyte/zygote/embryo maturation arrest 28 |
|
MONDO:0014769 |
| MONDO:0981534 |
myopathy with rigid spine, scoliosis, and male-limited hypogonadotropic hypogonadism |
OMIM:621734 |
MONDO:equivalentTo |
myopathy with rigid spine, scoliosis, and male-limited hypogonadotropic hypogonadism |
|
|
| MONDO:0981535 |
intellectual developmental disorder, autosomal recessive 86 |
OMIM:621738 |
MONDO:equivalentTo |
intellectual developmental disorder, autosomal recessive 86 |
|
MONDO:0019502 |
| MONDO:0981536 |
neurodegeneration, infantile-onset, with optic atrophy and |
OMIMPS:620987 |
MONDO:equivalentTo |
Neurodegeneration, infantile-onset, with optic atrophy and |
|
|