| 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:0976293 |
coronary atherosclerosis |
DOID:0061139 |
MONDO:equivalentTo |
coronary atherosclerosis |
|
MONDO:0005311 |
| MONDO:0976294 |
ragopathy |
DOID:0061140 |
MONDO:equivalentTo |
ragopathy |
|
MONDO:0002254 |
| MONDO:0976301 |
cardiovascular-kidney-metabolic syndrome |
DOID:0070635 |
MONDO:equivalentTo |
cardiovascular-kidney-metabolic syndrome |
|
MONDO:0002254 |
| MONDO:0978325 |
familial isolated hypoparathyroidism 2 |
DOID:0061151 |
MONDO:equivalentTo |
familial isolated hypoparathyroidism 2 |
|
MONDO:0016390,MONDO:0006025,MONDO:0000426 |
| MONDO:0978331 |
ring chromosome 20 syndrome |
DOID:0070622 |
MONDO:equivalentTo |
ring chromosome 20 syndrome |
|
MONDO:0700091 |
| MONDO:0979379 |
retinopathy sensory neuropathy syndrome |
DOID:0061157 |
MONDO:equivalentTo |
retinopathy sensory neuropathy syndrome |
|
MONDO:0002254,MONDO:0006025 |
| MONDO:0979384 |
autosomal recessive proximal renal tubular acidosis |
DOID:0061167 |
MONDO:equivalentTo |
autosomal recessive proximal renal tubular acidosis |
|
MONDO:0001909,MONDO:0006025 |
| MONDO:0979397 |
cherubism |
DOID:0070648 |
MONDO:equivalentTo |
cherubism |
A bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling. |
MONDO:0000837 |
| MONDO:0979578 |
avoidant/restrictive food intake disorder |
DOID:0051057 |
MONDO:equivalentTo |
avoidant/restrictive food intake disorder |
An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss. |
MONDO:0005451 |
| MONDO:0979581 |
developmental and epileptic encephalopathy 118 |
DOID:0061176 |
MONDO:equivalentTo |
developmental and epileptic encephalopathy 118 |
|
MONDO:0100062,MONDO:0000426 |
| MONDO:0979596 |
nil-deshwan neurodevelopmental syndrome |
DOID:0070652 |
MONDO:equivalentTo |
Nil-Deshwan neurodevelopmental syndrome |
|
MONDO:0002254,MONDO:0000426 |
| MONDO:0979598 |
hamartoma syndrome |
DOID:0070656 |
MONDO:equivalentTo |
hamartoma syndrome |
|
MONDO:0002254 |
| MONDO:0979599 |
hamartoma |
DOID:3462 |
MONDO:equivalentTo |
hamartoma |
|
MONDO:0005165 |
| MONDO:0979885 |
acute calcific periarthritis |
DOID:0051058 |
MONDO:equivalentTo |
acute calcific periarthritis |
A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation. |
MONDO:0006898 |
| MONDO:0979886 |
neonatal nephrocutaneous inflammatory syndrome |
DOID:0061191 |
MONDO:equivalentTo |
neonatal nephrocutaneous inflammatory syndrome |
|
MONDO:0019751,MONDO:0006025 |
| MONDO:0979887 |
neonatal inflammatory skin and bowel disease 1 |
DOID:0061192 |
MONDO:equivalentTo |
neonatal inflammatory skin and bowel disease 1 |
|
MONDO:0019751,MONDO:0006025 |
| MONDO:0979888 |
nephrotic syndrome type 26 |
DOID:0061193 |
MONDO:equivalentTo |
nephrotic syndrome type 26 |
|
MONDO:0002350,MONDO:0006025 |
| MONDO:0979889 |
nephrotic syndrome type 24 |
DOID:0061194 |
MONDO:equivalentTo |
nephrotic syndrome type 24 |
|
MONDO:0002350,MONDO:0006025 |
| MONDO:0979890 |
usher syndrome type 1b |
DOID:0070655 |
MONDO:equivalentTo |
Usher syndrome type 1B |
|
MONDO:0010168 |
| MONDO:0979891 |
congenital variant of rett syndrome |
DOID:0070657 |
MONDO:equivalentTo |
congenital variant of Rett syndrome |
|
MONDO:0000594,MONDO:0000426,MONDO:0005560 |
| MONDO:0979892 |
alcohol-associated liver disease |
DOID:0070658 |
MONDO:equivalentTo |
alcohol-associated liver disease |
|
MONDO:0005154 |
| MONDO:0979902 |
autosomal recessive segawa syndrome |
DOID:0051059 |
MONDO:equivalentTo |
autosomal recessive Segawa syndrome |
A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15. |
MONDO:0006025,MONDO:0003441 |
| MONDO:0979903 |
frontotemporal dementia 1 |
DOID:0051060 |
MONDO:equivalentTo |
frontotemporal dementia 1 |
A frontotemporal dementia that has_material_basis_in heterozygous mutation in the MAPT gene, which encodes microtubule-associated protein tau, on chromosome 17q21. |
MONDO:0017276 |
| MONDO:0979904 |
proximal renal tubular acidosis-ocular anomaly syndrome |
DOID:0061195 |
MONDO:equivalentTo |
proximal renal tubular acidosis-ocular anomaly syndrome |
|
MONDO:0001909,MONDO:0006025 |
| MONDO:0979905 |
mietens syndrome |
DOID:0061196 |
MONDO:equivalentTo |
Mietens syndrome |
|
MONDO:0002254 |
| MONDO:0979906 |
bcard syndrome |
DOID:0061197 |
MONDO:equivalentTo |
BCARD syndrome |
|
MONDO:0003900,MONDO:0006025 |
| MONDO:0979907 |
bethlem myopathy 1a |
DOID:0061198 |
MONDO:equivalentTo |
Bethlem myopathy 1A |
|
MONDO:0000426,MONDO:0008029 |
| MONDO:0979908 |
bethlem myopathy 1b |
DOID:0061199 |
MONDO:equivalentTo |
Bethlem myopathy 1B |
|
MONDO:0006025,MONDO:0000426,MONDO:0008029 |
| MONDO:0979909 |
bethlem myopathy 1c |
DOID:0061200 |
MONDO:equivalentTo |
Bethlem myopathy 1C |
|
MONDO:0006025,MONDO:0000426,MONDO:0008029 |
| MONDO:0979910 |
bethlem myopathy 2 |
DOID:0061201 |
MONDO:equivalentTo |
Bethlem myopathy 2 |
|
MONDO:0000426,MONDO:0008029 |
| MONDO:0979911 |
congenital muscular dystrophy with rapid progression |
DOID:0061202 |
MONDO:equivalentTo |
congenital muscular dystrophy with rapid progression |
|
MONDO:0006025,MONDO:0019950 |
| MONDO:0979912 |
maple syrup urine disease type ia |
DOID:0061203 |
MONDO:equivalentTo |
maple syrup urine disease type IA |
|
MONDO:0009563,MONDO:0006025 |
| MONDO:0979913 |
dihydrolipoamide dehydrogenase deficiency |
DOID:0061204 |
MONDO:equivalentTo |
dihydrolipoamide dehydrogenase deficiency |
|
MONDO:0009563,MONDO:0006025 |
| MONDO:0979914 |
mild variant of maple syrup urine disease |
DOID:0061205 |
MONDO:equivalentTo |
mild variant of maple syrup urine disease |
|
MONDO:0009563,MONDO:0006025 |
| MONDO:0979915 |
maple syrup urine disease type ib |
DOID:0061206 |
MONDO:equivalentTo |
maple syrup urine disease type IB |
|
MONDO:0009563,MONDO:0006025 |
| MONDO:0979916 |
maple syrup urine disease type ii |
DOID:0061207 |
MONDO:equivalentTo |
maple syrup urine disease type II |
|
MONDO:0009563,MONDO:0006025 |
| MONDO:0979917 |
epidermolytic hyperkeratosis 2b |
DOID:0061208 |
MONDO:equivalentTo |
epidermolytic hyperkeratosis 2B |
|
MONDO:0958184,MONDO:0006025 |
| MONDO:0979918 |
branchiootic syndrome 1 |
DOID:0061209 |
MONDO:equivalentTo |
branchiootic syndrome 1 |
|
MONDO:0018878,MONDO:0000426 |
| MONDO:0979919 |
branchiootic syndrome 3 |
DOID:0061210 |
MONDO:equivalentTo |
branchiootic syndrome 3 |
|
MONDO:0018878,MONDO:0000426 |
| MONDO:0979920 |
lafora disease 2 |
DOID:0061211 |
MONDO:equivalentTo |
Lafora disease 2 |
|
MONDO:0009697 |
| MONDO:0979921 |
hypocholesteremia |
DOID:0061212 |
MONDO:equivalentTo |
hypocholesteremia |
|
MONDO:0005066 |
| MONDO:0979922 |
telomere biology disorder |
DOID:0061213 |
MONDO:equivalentTo |
telomere biology disorder |
A genetic disease that is characterized by telomeres that are longer or shorter than usual. |
MONDO:0003847 |
| MONDO:0979923 |
biliary obstruction |
DOID:0061214 |
MONDO:equivalentTo |
biliary obstruction |
|
MONDO:0002887 |
| MONDO:0979924 |
hepatic fibrosis |
DOID:0061215 |
MONDO:equivalentTo |
hepatic fibrosis |
|
MONDO:0005154 |
| MONDO:0979925 |
pheochromocytoma/paraganglioma syndrome 1 |
DOID:0061216 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 1 |
|
MONDO:0000448 |
| MONDO:0979926 |
pheochromocytoma/paraganglioma syndrome 2 |
DOID:0061217 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 2 |
|
MONDO:0000448 |
| MONDO:0979927 |
pheochromocytoma/paraganglioma syndrome 3 |
DOID:0061218 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 3 |
|
MONDO:0000448 |
| MONDO:0979928 |
pheochromocytoma/paraganglioma syndrome 4 |
DOID:0061219 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 4 |
|
MONDO:0000448 |
| MONDO:0979929 |
pheochromocytoma/paraganglioma syndrome 5 |
DOID:0061220 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 5 |
|
MONDO:0000448 |
| MONDO:0979930 |
pheochromocytoma/paraganglioma syndrome 6 |
DOID:0061221 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 6 |
|
MONDO:0000448 |
| MONDO:0979931 |
pheochromocytoma/paraganglioma syndrome 7 |
DOID:0061222 |
MONDO:equivalentTo |
pheochromocytoma/paraganglioma syndrome 7 |
|
MONDO:0000448 |
| MONDO:0979932 |
epidermolytic hyperkeratosis 2a |
DOID:0061223 |
MONDO:equivalentTo |
epidermolytic hyperkeratosis 2A |
An epidermolytic hyperkeratosis that is characterized by blistering, keratoderma, and erythroderma that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene on chromosome 17q21. |
MONDO:0958184,MONDO:0000426 |
| MONDO:0979933 |
alpha-gal syndrome |
DOID:0070659 |
MONDO:equivalentTo |
alpha-gal syndrome |
An allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be triggered by mamalian-derived products. |
MONDO:0005271 |
| MONDO:0979934 |
lafora disease 1 |
DOID:0070660 |
MONDO:equivalentTo |
Lafora disease 1 |
|
MONDO:0009697 |
| MONDO:0980717 |
congenital ptosis |
DOID:0060261 |
MONDO:equivalentTo |
congenital ptosis |
|
MONDO:0000728,MONDO:0000839 |
| MONDO:0980718 |
infantile onset multisystem autoimmune disease 5 |
DOID:0061164 |
MONDO:equivalentTo |
infantile onset multisystem autoimmune disease 5 |
|
MONDO:0000213,MONDO:0006025 |
| MONDO:0980719 |
autosomal recessive congenital nystagmus |
DOID:0111797 |
MONDO:equivalentTo |
autosomal recessive congenital nystagmus |
|
MONDO:0005712,MONDO:0006025 |