| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
SC % |
| MONDO:0971055 |
rare yersiniosis |
Orphanet:659712 |
MONDO:equivalentTo |
Rare yersiniosis |
|
MONDO:8000033,MONDO:0015575 |
group of disorders |
| MONDO:0971082 |
gastric duplication |
Orphanet:662376 |
MONDO:equivalentTo |
Gastric duplication |
|
MONDO:8000034,MONDO:8000030,MONDO:0015209 |
disorder |
| MONDO:0971083 |
gallbladder duplication |
Orphanet:662388 |
MONDO:equivalentTo |
Gallbladder duplication |
|
MONDO:0015213,MONDO:0015116,MONDO:8000034,MONDO:8000030 |
disorder |
| MONDO:0971084 |
colonic duplication |
Orphanet:662392 |
MONDO:equivalentTo |
Colonic duplication |
|
MONDO:0015211,MONDO:8000030,MONDO:8000034 |
disorder |
| MONDO:0971085 |
pyloric duplication |
Orphanet:662405 |
MONDO:equivalentTo |
Pyloric duplication |
|
MONDO:8000034,MONDO:8000030,MONDO:0015209 |
disorder |
| MONDO:0971086 |
small intestine duplication |
Orphanet:662456 |
MONDO:equivalentTo |
Small intestine duplication |
|
MONDO:8000030,MONDO:0015211,MONDO:8000034 |
disorder |
| MONDO:0971089 |
vasa previa |
Orphanet:662786 |
MONDO:equivalentTo |
Vasa previa |
|
MONDO:0015582,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0971099 |
inherited cancer-predisposing lymphoproliferative syndrome |
Orphanet:664450 |
MONDO:equivalentTo |
Inherited cancer-predisposing lymphoproliferative syndrome |
|
MONDO:8000033,MONDO:0015356 |
group of disorders |
| MONDO:0971100 |
immune dysregulation disease with immunodeficiency associated with ebv susceptibility |
Orphanet:664456 |
MONDO:equivalentTo |
Immune dysregulation disease with immunodeficiency associated with EBV susceptibility |
|
MONDO:8000033,MONDO:0015710 |
group of disorders |
| MONDO:0971109 |
isolated congenital femoral bifurcation |
Orphanet:667589 |
MONDO:equivalentTo |
Isolated congenital femoral bifurcation |
|
MONDO:8000034,MONDO:8000030,MONDO:0017420 |
disorder |
| MONDO:0971120 |
syndrome with congenital phagocyte functional defect as a major feature |
Orphanet:674648 |
MONDO:equivalentTo |
Syndrome with congenital phagocyte functional defect as a major feature |
|
MONDO:8000033,MONDO:0015978 |
group of disorders |
| MONDO:0971122 |
non-syndromic congenital phagocyte functional defect |
Orphanet:674896 |
MONDO:equivalentTo |
Non-syndromic congenital phagocyte functional defect |
|
MONDO:8000033,MONDO:0015978 |
group of disorders |
| MONDO:0971144 |
primary benign peritoneal tumor |
Orphanet:676030 |
MONDO:equivalentTo |
Primary benign peritoneal tumor |
|
MONDO:8000033,MONDO:0015682 |
group of disorders |
| MONDO:0975879 |
isolated idiopathic anterior uveitis |
Orphanet:280914 |
MONDO:equivalentTo |
Isolated idiopathic anterior uveitis |
|
MONDO:8000034,MONDO:0000001,MONDO:0006651 |
disorder |
| MONDO:0975880 |
intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome |
Orphanet:684216 |
MONDO:equivalentTo |
Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome |
|
MONDO:8000034,MONDO:0015159,MONDO:0035863,MONDO:0019589,MONDO:8000032 |
disorder |
| MONDO:0975881 |
intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome |
Orphanet:684226 |
MONDO:equivalentTo |
Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome |
|
MONDO:0035863,MONDO:8000032,MONDO:0015159,MONDO:8000034 |
disorder |
| MONDO:0975882 |
intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome |
Orphanet:684232 |
MONDO:equivalentTo |
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome |
|
MONDO:0026190,MONDO:8000032,MONDO:0015336,MONDO:0035863,MONDO:8000034,MONDO:0015159,MONDO:0015653 |
disorder |
| MONDO:0975883 |
neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome |
Orphanet:684240 |
MONDO:equivalentTo |
Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome |
|
MONDO:0015653,MONDO:8000032,MONDO:0015159,MONDO:8000034,MONDO:0035863 |
disorder |
| MONDO:0975884 |
isolated growth hormone deficiency type iv |
Orphanet:684247 |
MONDO:equivalentTo |
Isolated growth hormone deficiency type IV |
|
MONDO:8000031,MONDO:0000050 |
subtype of a disorder |
| MONDO:0975885 |
hypertrophic olivary degeneration |
Orphanet:684290 |
MONDO:equivalentTo |
Hypertrophic olivary degeneration |
|
MONDO:8000034,MONDO:0000001,MONDO:0015918 |
disorder |
| MONDO:0975886 |
nocgus syndrome |
Orphanet:684305 |
MONDO:equivalentTo |
NOCGUS syndrome |
|
MONDO:0000001,MONDO:0015506,MONDO:8000034,MONDO:0015159,MONDO:0035863 |
disorder |
| MONDO:0975887 |
2q13 microdeletion syndrome |
Orphanet:684742 |
MONDO:equivalentTo |
2q13 microdeletion syndrome |
|
MONDO:0015159,MONDO:8000032,MONDO:0035863,MONDO:0015506,MONDO:8000034,MONDO:0016901 |
disorder |
| MONDO:0975888 |
malformation of the anal canal and the rectum |
Orphanet:684757 |
MONDO:equivalentTo |
Malformation of the anal canal and the rectum |
|
MONDO:0020019,MONDO:8000033,MONDO:0026183 |
group of disorders |
| MONDO:0975889 |
primary pericardial mesothelioma |
Orphanet:685004 |
MONDO:equivalentTo |
Primary pericardial mesothelioma |
|
MONDO:0000001,MONDO:0015673,MONDO:8000034 |
disorder |
| MONDO:0975890 |
mesothelioma of the tunica vaginalis |
Orphanet:685010 |
MONDO:equivalentTo |
Mesothelioma of the tunica vaginalis |
|
MONDO:8000034,MONDO:0000001,MONDO:0018191 |
disorder |
| MONDO:0975891 |
combined immunodeficiency due to tbx1 deficiency |
Orphanet:685017 |
MONDO:equivalentTo |
Combined immunodeficiency due to TBX1 deficiency |
|
MONDO:8000034,MONDO:0015159,MONDO:0018036,MONDO:0000001,MONDO:0035863 |
disorder |
| MONDO:0975892 |
hypodontia-scalp hypotrichosis-facial dysmorphism syndrome |
Orphanet:685067 |
MONDO:equivalentTo |
Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome |
|
MONDO:0000001,MONDO:8000034,MONDO:0020014,MONDO:0043008,MONDO:0019287,MONDO:0015161 |
disorder |
| MONDO:0975893 |
pediatric acute respiratory distress syndrome |
Orphanet:685082 |
MONDO:equivalentTo |
Pediatric acute respiratory distress syndrome |
|
MONDO:0000001,MONDO:0017016,MONDO:8000034 |
disorder |
| MONDO:0975894 |
ifng-responsive severe mendelian susceptibility to mycobacterial diseases |
Orphanet:686447 |
MONDO:equivalentTo |
IFNG-responsive severe mendelian susceptibility to mycobacterial diseases |
|
MONDO:0000001,MONDO:0017897,MONDO:8000034 |
disorder |
| MONDO:0975895 |
non-fibrotic hypersensitivity pneumonitis |
Orphanet:686462 |
MONDO:equivalentTo |
Non-fibrotic hypersensitivity pneumonitis |
|
MONDO:8000031,MONDO:0017853 |
subtype of a disorder |
| MONDO:0975896 |
fibrotic hypersensitivity pneumonitis |
Orphanet:686465 |
MONDO:equivalentTo |
Fibrotic hypersensitivity pneumonitis |
|
MONDO:8000031,MONDO:0017853 |
subtype of a disorder |
| MONDO:0975897 |
post 5-alpha-reductase inhibitors treatment syndrome |
Orphanet:686468 |
MONDO:equivalentTo |
Post 5-alpha-reductase inhibitors treatment syndrome |
|
MONDO:0020009,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0975898 |
post-selective serotonin reuptake inhibitor sexual dysfunction |
Orphanet:686475 |
MONDO:equivalentTo |
Post-selective serotonin reuptake inhibitor sexual dysfunction |
|
MONDO:0000001,MONDO:0020009,MONDO:8000034 |
disorder |
| MONDO:0975899 |
bptf-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome |
Orphanet:686482 |
MONDO:equivalentTo |
BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome |
|
MONDO:0015159,MONDO:0035863,MONDO:8000034,MONDO:8000032 |
disorder |
| MONDO:0975901 |
madd-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome |
Orphanet:686495 |
MONDO:equivalentTo |
MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome |
|
MONDO:0015126,MONDO:0026209,MONDO:0035863,MONDO:0000001,MONDO:8000034,MONDO:0015159 |
disorder |
| MONDO:0975902 |
isolated congenital cholesteatoma of the middle ear |
Orphanet:686556 |
MONDO:equivalentTo |
Isolated congenital cholesteatoma of the middle ear |
|
MONDO:8000034,MONDO:8000030,MONDO:0015604 |
disorder |
| MONDO:0975903 |
lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome |
Orphanet:686999 |
MONDO:equivalentTo |
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome |
|
MONDO:0000001,MONDO:0015361,MONDO:8000034,MONDO:0020087 |
disorder |
| MONDO:0975904 |
10p15 microdeletion syndrome |
Orphanet:687424 |
MONDO:equivalentTo |
10p15 microdeletion syndrome |
|
MONDO:8000034,MONDO:0035863,MONDO:0016892,MONDO:0015159,MONDO:8000032 |
disorder |
| MONDO:0975905 |
10p13-p14 deletion syndrome |
Orphanet:687695 |
MONDO:equivalentTo |
10p13-p14 deletion syndrome |
|
MONDO:0018036,MONDO:0015159,MONDO:8000032,MONDO:0035863,MONDO:8000034,MONDO:0016892 |
disorder |
| MONDO:0975906 |
unifocal langerhans cell histiocytosis |
Orphanet:687730 |
MONDO:equivalentTo |
Unifocal Langerhans cell histiocytosis |
|
MONDO:0018310,MONDO:8000031 |
subtype of a disorder |
| MONDO:0975907 |
pulmonary langerhans cell histiocytosis |
Orphanet:687733 |
MONDO:equivalentTo |
Pulmonary Langerhans cell histiocytosis |
|
MONDO:8000031,MONDO:0018310 |
subtype of a disorder |
| MONDO:0975908 |
single-system multifocal langerhans cell histiocytosis |
Orphanet:687738 |
MONDO:equivalentTo |
Single-system multifocal Langerhans cell histiocytosis |
|
MONDO:8000031,MONDO:0018310 |
subtype of a disorder |
| MONDO:0975909 |
multisystem langerhans cell histiocytosis |
Orphanet:687741 |
MONDO:equivalentTo |
Multisystem Langerhans cell histiocytosis |
|
MONDO:0018310,MONDO:8000031 |
subtype of a disorder |
| MONDO:0975910 |
splenic venous malformation |
Orphanet:688523 |
MONDO:equivalentTo |
Splenic venous malformation |
|
MONDO:0016232,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0975911 |
reticular dysgenesis-like severe combined immunodeficiency |
Orphanet:688543 |
MONDO:equivalentTo |
Reticular dysgenesis-like severe combined immunodeficiency |
|
MONDO:0000001,MONDO:0017855,MONDO:8000034 |
disorder |
| MONDO:0975912 |
midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome |
Orphanet:688581 |
MONDO:equivalentTo |
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome |
|
MONDO:0019589,MONDO:8000034,MONDO:0043008,MONDO:0019744,MONDO:0015910,MONDO:8000032,MONDO:0015962,MONDO:0015161 |
disorder |
| MONDO:0975913 |
combined immunodeficiency due to relb deficiency |
Orphanet:688594 |
MONDO:equivalentTo |
Combined immunodeficiency due to RELB deficiency |
|
MONDO:0015709,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0975914 |
turnpenny-fry syndrome |
Orphanet:688642 |
MONDO:equivalentTo |
Turnpenny-Fry syndrome |
|
MONDO:0015159,MONDO:0015506,MONDO:0035863,MONDO:8000032,MONDO:8000034,MONDO:0019589 |
disorder |
| MONDO:0975915 |
isolated adrenal medullary hyperplasia |
Orphanet:688649 |
MONDO:equivalentTo |
Isolated adrenal medullary hyperplasia |
|
MONDO:8000034,MONDO:0000001,MONDO:0015124 |
disorder |
| MONDO:0975916 |
scarlet fever |
Orphanet:688995 |
MONDO:equivalentTo |
Scarlet fever |
|
MONDO:8000034,MONDO:0000001,MONDO:0015575 |
disorder |
| MONDO:0975917 |
isolated spontaneous vertebral artery dissection |
Orphanet:689001 |
MONDO:equivalentTo |
Isolated spontaneous vertebral artery dissection |
|
MONDO:0015953,MONDO:0000001,MONDO:0019110,MONDO:8000034 |
disorder |
| MONDO:0975918 |
asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome |
Orphanet:689021 |
MONDO:equivalentTo |
Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome |
|
MONDO:0016109,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0975919 |
ifh1-related hereditary spastic paraplegia |
Orphanet:689231 |
MONDO:equivalentTo |
IFH1-related hereditary spastic paraplegia |
|
MONDO:8000034,MONDO:0000001,MONDO:0015088 |
disorder |
| MONDO:0975920 |
rnaseh2b-related hereditary spastic paraplegia |
Orphanet:689234 |
MONDO:equivalentTo |
RNASEH2B-related hereditary spastic paraplegia |
|
MONDO:0015090,MONDO:8000034,MONDO:0000001 |
disorder |
| MONDO:0975921 |
poirier-bienvenue neurodevelopmental syndrome |
Orphanet:689397 |
MONDO:equivalentTo |
Poirier-Bienvenue neurodevelopmental syndrome |
|
MONDO:8000034,MONDO:0015159,MONDO:0035863,MONDO:8000032 |
disorder |
| MONDO:0975922 |
acquired hypothalamic obesity |
Orphanet:689401 |
MONDO:equivalentTo |
Acquired hypothalamic obesity |
|
MONDO:8000034,MONDO:0000001,MONDO:0015889 |
disorder |
| MONDO:0975923 |
shashi-pena syndrome |
Orphanet:689408 |
MONDO:equivalentTo |
Shashi-Pena syndrome |
|
MONDO:8000032,MONDO:0035863,MONDO:0015159,MONDO:8000034 |
disorder |
| MONDO:0975924 |
okur-chung neurodevelopmental syndrome |
Orphanet:689422 |
MONDO:equivalentTo |
Okur-Chung neurodevelopmental syndrome |
|
MONDO:0015159,MONDO:0035863,MONDO:8000034,MONDO:8000032 |
disorder |
| MONDO:0975925 |
adenoid ameloblastoma |
Orphanet:689430 |
MONDO:equivalentTo |
Adenoid ameloblastoma |
|
MONDO:0017797,MONDO:0000001,MONDO:8000034 |
disorder |
| MONDO:0975926 |
structural heart defects-renal anomalies syndrome |
Orphanet:689822 |
MONDO:equivalentTo |
Structural heart defects-renal anomalies syndrome |
|
MONDO:0015506,MONDO:8000034,MONDO:0043008,MONDO:0015161,MONDO:8000032,MONDO:0019721 |
disorder |
| MONDO:0975927 |
microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome |
Orphanet:689829 |
MONDO:equivalentTo |
Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome |
|
MONDO:0015214,MONDO:0000001,MONDO:8000034,MONDO:0016073,MONDO:0035863,MONDO:0015159 |
disorder |