| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0958281 |
mitochondrial complex v (atp synthase) deficiency nuclear type 4 |
DOID:0060333 |
MONDO:equivalentTo |
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
|
MONDO:0014471 |
| MONDO:0958318 |
chronic inflammatory demyelinating polyneuritis |
DOID:2536 |
MONDO:equivalentTo |
chronic inflammatory demyelinating polyneuritis |
|
MONDO:0002336 |
| MONDO:0958319 |
congenital kyphosis |
DOID:4668 |
MONDO:equivalentTo |
congenital kyphosis |
|
|
| MONDO:0958320 |
postural kyphosis |
DOID:9373 |
MONDO:equivalentTo |
postural kyphosis |
|
|
| MONDO:0958359 |
childhood spinal muscular atrophy |
DOID:0060160 |
MONDO:equivalentTo |
childhood spinal muscular atrophy |
|
MONDO:0001516 |
| MONDO:0958360 |
cholesterol-ester transfer protein deficiency |
DOID:0111368 |
MONDO:equivalentTo |
cholesterol-ester transfer protein deficiency |
|
MONDO:0002525 |
| MONDO:0968993 |
aleutian mink disease |
DOID:2934 |
MONDO:equivalentTo |
aleutian mink disease |
|
MONDO:0005108 |
| MONDO:0968994 |
borna disease |
DOID:5154 |
MONDO:equivalentTo |
borna disease |
|
MONDO:0005108,MONDO:0002602 |
| MONDO:0970991 |
papilledema |
DOID:146 |
MONDO:equivalentTo |
papilledema |
|
MONDO:0002135 |
| MONDO:0971183 |
autosomal recessive pseudohypoaldosteronism type 1 |
DOID:0060854 |
MONDO:equivalentTo |
autosomal recessive pseudohypoaldosteronism type 1 |
|
MONDO:0018638,MONDO:0006025 |
| MONDO:0975707 |
idiopathic pulmonary fibrosis |
DOID:0050156 |
MONDO:equivalentTo |
idiopathic pulmonary fibrosis |
A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. |
MONDO:0002771,MONDO:0000426 |
| MONDO:0975708 |
dialysis disequilibrium syndrome |
DOID:0070564 |
MONDO:equivalentTo |
dialysis disequilibrium syndrome |
|
MONDO:0002254 |
| MONDO:0975812 |
sertoli cell-only syndrome |
DOID:0050457 |
MONDO:equivalentTo |
Sertoli cell-only syndrome |
|
MONDO:0005372 |
| MONDO:0975814 |
poor metabolism of thiopurines 2 |
DOID:0060996 |
MONDO:equivalentTo |
poor metabolism of thiopurines 2 |
|
MONDO:0012503,MONDO:0000426 |
| MONDO:0976276 |
retinitis pigmentosa 99 |
DOID:0061127 |
MONDO:equivalentTo |
retinitis pigmentosa 99 |
|
MONDO:0019200 |
| MONDO:0976289 |
infantile hypercalcemia 2 |
DOID:0061135 |
MONDO:equivalentTo |
infantile hypercalcemia 2 |
|
MONDO:0019052,MONDO:0001566,MONDO:0006025 |
| MONDO:0976290 |
infantile hypercalcemia 1 |
DOID:0061136 |
MONDO:equivalentTo |
infantile hypercalcemia 1 |
|
MONDO:0019052,MONDO:0001566,MONDO:0006025 |
| MONDO:0976291 |
spinocerebellar ataxia type 27b |
DOID:0061137 |
MONDO:equivalentTo |
spinocerebellar ataxia type 27B |
|
MONDO:0020380 |
| MONDO:0976292 |
complex cortical dysplasia with other brain malformations 9 |
DOID:0061138 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 9 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976293 |
coronary atherosclerosis |
DOID:0061139 |
MONDO:equivalentTo |
coronary atherosclerosis |
|
MONDO:0005311 |
| MONDO:0976294 |
ragopathy |
DOID:0061140 |
MONDO:equivalentTo |
ragopathy |
|
MONDO:0002254 |
| MONDO:0976295 |
complex cortical dysplasia with other brain malformations 12 |
DOID:0061141 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 12 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976296 |
complex cortical dysplasia with other brain malformations 11 |
DOID:0061142 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 11 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976297 |
complex cortical dysplasia with other brain malformations 10 |
DOID:0061143 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 10 |
|
MONDO:0000904,MONDO:0006025 |
| MONDO:0976298 |
complex cortical dysplasia with other brain malformations 13 |
DOID:0061144 |
MONDO:equivalentTo |
complex cortical dysplasia with other brain malformations 13 |
|
MONDO:0000904,MONDO:0000426 |
| MONDO:0976299 |
pan-chung-bellen syndrome |
DOID:0061146 |
MONDO:equivalentTo |
Pan-Chung-Bellen syndrome |
|
MONDO:0000508,MONDO:0000426 |
| MONDO:0976300 |
neurodevelopmental disorder with or without autism or seizures |
DOID:0061147 |
MONDO:equivalentTo |
neurodevelopmental disorder with or without autism or seizures |
|
MONDO:0002254,MONDO:0015802 |
| MONDO:0976301 |
cardiovascular-kidney-metabolic syndrome |
DOID:0070635 |
MONDO:equivalentTo |
cardiovascular-kidney-metabolic syndrome |
|
MONDO:0002254 |
| MONDO:0978314 |
bryant-li-bhoj neurodevelopmental syndrome 1 |
DOID:0051011 |
MONDO:equivalentTo |
Bryant-Li-Bhoj neurodevelopmental syndrome 1 |
A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones and that has_material_basis_in heterozygous mutation in the H3F3A gene on chromosome 1q42. |
MONDO:0031200 |
| MONDO:0978315 |
bryant-li-bhoj neurodevelopmental syndrome 2 |
DOID:0051012 |
MONDO:equivalentTo |
Bryant-Li-Bhoj neurodevelopmental syndrome 2 |
A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25. |
MONDO:0031200 |
| MONDO:0978316 |
atypical autosomal dominant adult-onset demyelinating leukodystrophy |
DOID:0051014 |
MONDO:equivalentTo |
atypical autosomal dominant adult-onset demyelinating leukodystrophy |
An adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts while sparing the cerebellum and that has_material_basis_in heterozygous deletion involving regulatory elements upstream of the LMNB1 gene on chromosome 5q23. Atypical ADLD can be distinguished from typical ADLD by lack of early involvement of the autonomic nervous system and sparing of the cerebellum clinically and on brain imaging. |
MONDO:0008215,MONDO:0000426 |
| MONDO:0978317 |
autosomal dominant primary microcephaly 26 |
DOID:0051037 |
MONDO:equivalentTo |
autosomal dominant primary microcephaly 26 |
|
MONDO:0007988 |
| MONDO:0978318 |
autosomal dominant primary microcephaly 27 |
DOID:0051038 |
MONDO:equivalentTo |
autosomal dominant primary microcephaly 27 |
|
MONDO:0007988 |
| MONDO:0978319 |
congenital disorder of deglycosylation 2 |
DOID:0060990 |
MONDO:equivalentTo |
congenital disorder of deglycosylation 2 |
|
MONDO:0031376,MONDO:0006025 |
| MONDO:0978320 |
rhabdoid tumor predisposition syndrome 2 |
DOID:0060997 |
MONDO:equivalentTo |
rhabdoid tumor predisposition syndrome 2 |
|
MONDO:0016473 |
| MONDO:0978321 |
monilethrix 1 |
DOID:0061145 |
MONDO:equivalentTo |
monilethrix 1 |
|
MONDO:0008009 |
| MONDO:0978322 |
hereditary congenital ptosis 2 |
DOID:0061148 |
MONDO:equivalentTo |
hereditary congenital ptosis 2 |
|
MONDO:0020605,MONDO:0008340 |
| MONDO:0978323 |
hereditary congenital ptosis 1 |
DOID:0061149 |
MONDO:equivalentTo |
hereditary congenital ptosis 1 |
|
MONDO:0008340,MONDO:0000426 |
| MONDO:0978324 |
familial isolated hypoparathyroidism 1 |
DOID:0061150 |
MONDO:equivalentTo |
familial isolated hypoparathyroidism 1 |
|
MONDO:0016390,MONDO:0006025,MONDO:0000426 |
| MONDO:0978325 |
familial isolated hypoparathyroidism 2 |
DOID:0061151 |
MONDO:equivalentTo |
familial isolated hypoparathyroidism 2 |
|
MONDO:0016390,MONDO:0006025,MONDO:0000426 |
| MONDO:0978326 |
monilethrix 2 |
DOID:0061152 |
MONDO:equivalentTo |
monilethrix 2 |
|
MONDO:0008009 |
| MONDO:0978327 |
monilethrix 3 |
DOID:0061153 |
MONDO:equivalentTo |
monilethrix 3 |
|
MONDO:0008009 |
| MONDO:0978328 |
mulvihill-smith syndrome |
DOID:0061154 |
MONDO:equivalentTo |
Mulvihill-Smith syndrome |
|
MONDO:0015333 |
| MONDO:0978329 |
rhabdoid tumor predisposition syndrome 1 |
DOID:0070618 |
MONDO:equivalentTo |
rhabdoid tumor predisposition syndrome 1 |
|
MONDO:0016473 |
| MONDO:0978330 |
ring chromosome 14 syndrome |
DOID:0070621 |
MONDO:equivalentTo |
ring chromosome 14 syndrome |
|
MONDO:0700091 |
| MONDO:0978331 |
ring chromosome 20 syndrome |
DOID:0070622 |
MONDO:equivalentTo |
ring chromosome 20 syndrome |
|
MONDO:0700091 |
| MONDO:0978332 |
mirror movements 1 |
DOID:0070636 |
MONDO:equivalentTo |
mirror movements 1 |
|
MONDO:0016558,MONDO:0000426 |
| MONDO:0978333 |
mirror movements 2 |
DOID:0070637 |
MONDO:equivalentTo |
mirror movements 2 |
|
MONDO:0016558,MONDO:0000426 |
| MONDO:0978334 |
mirror movements 4 |
DOID:0070638 |
MONDO:equivalentTo |
mirror movements 4 |
|
MONDO:0016558,MONDO:0000426 |
| MONDO:0978335 |
mirror movements 3 |
DOID:0070639 |
MONDO:equivalentTo |
mirror movements 3 |
|
MONDO:0016558,MONDO:0006025 |
| MONDO:0978336 |
hereditary spastic paraplegia 92 |
DOID:0070644 |
MONDO:equivalentTo |
hereditary spastic paraplegia 92 |
|
MONDO:0019064,MONDO:0006025 |