| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0975795 |
kariminejad-reversade neurodevelopmental syndrome |
OMIM:620937 |
MONDO:equivalentTo |
kariminejad-reversade neurodevelopmental syndrome |
|
|
| MONDO:0975796 |
spastic paraplegia 93, autosomal recessive |
OMIM:620938 |
MONDO:equivalentTo |
spastic paraplegia 93, autosomal recessive |
|
MONDO:0019064 |
| MONDO:0975797 |
myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities |
OMIM:620939 |
MONDO:equivalentTo |
myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities |
|
|
| MONDO:0975798 |
methylmalonic aciduria and homocystinuria, cbll type |
OMIM:620940 |
MONDO:equivalentTo |
methylmalonic aciduria and homocystinuria, cbll type |
|
MONDO:0016826 |
| MONDO:0975799 |
brain malformation renal syndrome |
OMIM:620943 |
MONDO:equivalentTo |
brain malformation renal syndrome |
|
|
| MONDO:0975800 |
spinocerebellar ataxia 51 |
OMIM:620947 |
MONDO:equivalentTo |
spinocerebellar ataxia 51 |
|
MONDO:0020380 |
| MONDO:0975801 |
encephalopathy, acute transient |
OMIM:620950 |
MONDO:equivalentTo |
encephalopathy, acute transient |
|
|
| MONDO:0975802 |
homocystinuria-megaloblastic anemia |
OMIMPS:236270 |
MONDO:equivalentTo |
Homocystinuria-megaloblastic anemia |
|
|
| MONDO:0975803 |
methylmalonic aciduria |
OMIMPS:251000 |
MONDO:equivalentTo |
Methylmalonic aciduria |
|
|
| MONDO:0975805 |
foveal hypoplasia 3 |
OMIM:620958 |
MONDO:equivalentTo |
foveal hypoplasia 3 |
|
MONDO:0044203 |
| MONDO:0975806 |
multiple mitochondrial dysfunctions syndrome 10 |
OMIM:620960 |
MONDO:equivalentTo |
multiple mitochondrial dysfunctions syndrome 10 |
|
MONDO:0017338 |
| MONDO:0975807 |
cholestasis, progressive familial intrahepatic, 13 |
OMIM:620962 |
MONDO:equivalentTo |
cholestasis, progressive familial intrahepatic, 13 |
|
MONDO:0015762 |
| MONDO:0975808 |
congenital myopathy 25 |
OMIM:620964 |
MONDO:equivalentTo |
congenital myopathy 25 |
|
MONDO:0019952 |
| MONDO:0975809 |
microphthalmia/coloboma 13 |
OMIM:620968 |
MONDO:equivalentTo |
microphthalmia/coloboma 13 |
|
MONDO:0000170 |
| MONDO:0975810 |
short stature with nonspecific skeletal abnormalities |
OMIMPS:616255 |
MONDO:equivalentTo |
Short stature with nonspecific skeletal abnormalities |
|
|
| MONDO:0975826 |
arthrogryposis multiplex congenita 7, x-linked |
OMIM:301127 |
MONDO:equivalentTo |
arthrogryposis multiplex congenita 7, X-linked |
|
MONDO:0015168 |
| MONDO:0975827 |
orofaciodigital syndrome 21 |
OMIM:301132 |
MONDO:equivalentTo |
orofaciodigital syndrome 21 |
|
MONDO:0015375 |
| MONDO:0975828 |
intellectual developmental disorder, x-linked 114 |
OMIM:301134 |
MONDO:equivalentTo |
intellectual developmental disorder, X-linked 114 |
|
MONDO:0019181 |
| MONDO:0975829 |
anemia, congenital dyserythropoietic, type ivb |
OMIM:620969 |
MONDO:equivalentTo |
anemia, congenital dyserythropoietic, type ivb |
|
MONDO:0019403 |
| MONDO:0975830 |
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 |
OMIM:620971 |
MONDO:equivalentTo |
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 |
|
|
| MONDO:0975831 |
blood group, anton system |
OMIM:620975 |
MONDO:equivalentTo |
blood group, anton system |
|
|
| MONDO:0975832 |
immunodeficiency 127 |
OMIM:620977 |
MONDO:equivalentTo |
immunodeficiency 127 |
|
MONDO:0021094 |
| MONDO:0975833 |
leukodystrophy, hypomyelinating, 28 |
OMIM:620978 |
MONDO:equivalentTo |
leukodystrophy, hypomyelinating, 28 |
|
MONDO:0019046 |
| MONDO:0975834 |
immunodeficiency 128 |
OMIM:620983 |
MONDO:equivalentTo |
immunodeficiency 128 |
|
|
| MONDO:0975835 |
bronchiectasis and nasal polyposis |
OMIM:620984 |
MONDO:equivalentTo |
bronchiectasis and nasal polyposis |
|
|
| MONDO:0975836 |
karayol-borroto-haghshenas neurodevelopmental syndrome |
OMIM:620985 |
MONDO:equivalentTo |
karayol-borroto-haghshenas neurodevelopmental syndrome |
|
|
| MONDO:0975837 |
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities |
OMIM:620987 |
MONDO:equivalentTo |
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities |
|
|
| MONDO:0975838 |
intellectual developmental disorder, autosomal dominant 75 |
OMIM:620988 |
MONDO:equivalentTo |
intellectual developmental disorder, autosomal dominant 75 |
|
MONDO:0100172 |
| MONDO:0975839 |
pancreatic agenesis 3 |
OMIM:620991 |
MONDO:equivalentTo |
pancreatic agenesis 3 |
|
MONDO:0009832 |
| MONDO:0975840 |
retinitis pigmentosa 98 |
OMIM:620996 |
MONDO:equivalentTo |
retinitis pigmentosa 98 |
|
MONDO:0019200 |
| MONDO:0975841 |
fibromatosis, gingival, 6 |
OMIM:620999 |
MONDO:equivalentTo |
fibromatosis, gingival, 6 |
|
MONDO:0016070 |
| MONDO:0975842 |
spermatogenic failure 96 |
OMIM:621001 |
MONDO:equivalentTo |
spermatogenic failure 96 |
|
MONDO:0004983 |
| MONDO:0975843 |
premature ovarian failure 25 |
OMIM:621002 |
MONDO:equivalentTo |
premature ovarian failure 25 |
|
MONDO:0019852 |
| MONDO:0975844 |
acth-independent macronodular adrenal hyperplasia |
OMIMPS:219080 |
MONDO:equivalentTo |
ACTH-independent macronodular adrenal hyperplasia |
|
|
| MONDO:0975846 |
congenital disorder of glycosylation, type 1dd |
OMIM:301133 |
MONDO:equivalentTo |
congenital disorder of glycosylation, type 1dd |
|
|
| MONDO:0975847 |
autoimmune disease with susceptibility to mycobacterium tuberculosis |
OMIM:621004 |
MONDO:equivalentTo |
autoimmune disease with susceptibility to mycobacterium tuberculosis |
|
|
| MONDO:0975848 |
morimoto-ryu-malicdan neuromuscular syndrome |
OMIM:621010 |
MONDO:equivalentTo |
morimoto-ryu-malicdan neuromuscular syndrome |
|
|