| ID |
LABEL |
A oboInOwl:hasDbXref |
>A oboInOwl:source SPLIT= |
|
|
A IAO:0000115 |
| MONDO:0958318 |
chronic inflammatory demyelinating polyneuritis |
DOID:2536 |
MONDO:equivalentTo |
chronic inflammatory demyelinating polyneuritis |
|
MONDO:0002336 |
| 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:0975812 |
sertoli cell-only syndrome |
DOID:0050457 |
MONDO:equivalentTo |
Sertoli cell-only syndrome |
|
MONDO:0005372 |
| 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:0979598 |
hamartoma syndrome |
DOID:0070656 |
MONDO:equivalentTo |
hamartoma syndrome |
|
MONDO:0002254 |
| 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:0981181 |
congenital anomalies of the kidney and urinary tract 3 |
DOID:0051078 |
MONDO:equivalentTo |
congenital anomalies of the kidney and urinary tract 3 |
A congenital anomalies of the kidney and urinary tract that has_material_basis_in heterozygous mutation in the NRIP1 gene on chromosome 21q11-q21. |
MONDO:0019719 |
| MONDO:0981182 |
monogenic chronic kidney disease |
DOID:0051079 |
MONDO:equivalentTo |
monogenic chronic kidney disease |
A chronic kidney disease that has_material_basis_in a mutation in a single gene. |
MONDO:0005300,MONDO:0000275 |
| MONDO:0981183 |
alport syndrome 3b |
DOID:0051080 |
MONDO:equivalentTo |
Alport syndrome 3B |
An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. |
MONDO:0018965,MONDO:0006025 |
| MONDO:0981184 |
polycystic kidney disease 8 |
DOID:0051081 |
MONDO:equivalentTo |
polycystic kidney disease 8 |
An autosomal dominant polycystic kidney disease that is characterized by enlarged kidneys, arterial hypertension, and kidney failure and that has_material_basis_in heterozygous mutation in the NEK8 gene on chromosome 17q11. |
MONDO:0004691 |
| MONDO:0981185 |
parkinson's disease 27 |
DOID:0051082 |
MONDO:equivalentTo |
Parkinson's disease 27 |
A Parkinson's disease that has_material_basis_in mutation in the GBA1 gene on chromosome 1q22. |
MONDO:0005180 |
| MONDO:0981186 |
liver glycogen storage disease |
DOID:0061271 |
MONDO:equivalentTo |
liver glycogen storage disease |
|
MONDO:0002412,MONDO:0006025 |
| MONDO:0981187 |
muscle glycogen storage disease |
DOID:0061272 |
MONDO:equivalentTo |
muscle glycogen storage disease |
|
MONDO:0002412,MONDO:0006025 |
| MONDO:0981188 |
glycogen storage disease x |
DOID:0061285 |
MONDO:equivalentTo |
glycogen storage disease X |
|
MONDO:0002412,MONDO:0006025 |
| MONDO:0981189 |
glycogen storage disease xi |
DOID:0061286 |
MONDO:equivalentTo |
glycogen storage disease XI |
|
MONDO:0002412,MONDO:0006025 |
| MONDO:0981190 |
glycogen storage disease xii |
DOID:0061287 |
MONDO:equivalentTo |
glycogen storage disease XII |
|
MONDO:0002412,MONDO:0006025 |
| MONDO:0981191 |
glycogen storage disease xiii |
DOID:0061288 |
MONDO:equivalentTo |
glycogen storage disease XIII |
|
MONDO:0002412,MONDO:0006025 |
| MONDO:0981192 |
galloway-mowat syndrome 6 |
DOID:0061289 |
MONDO:equivalentTo |
Galloway-Mowat syndrome 6 |
|
MONDO:0009627,MONDO:0006025 |
| MONDO:0981193 |
galloway-mowat syndrome 7 |
DOID:0061290 |
MONDO:equivalentTo |
Galloway-Mowat syndrome 7 |
|
MONDO:0009627,MONDO:0006025 |
| MONDO:0981194 |
galloway-mowat syndrome 8 |
DOID:0061291 |
MONDO:equivalentTo |
Galloway-Mowat syndrome 8 |
|
MONDO:0009627,MONDO:0006025 |
| MONDO:0981195 |
galloway-mowat syndrome 9 |
DOID:0061292 |
MONDO:equivalentTo |
Galloway-Mowat syndrome 9 |
|
MONDO:0009627,MONDO:0006025 |
| MONDO:0981196 |
galloway-mowat syndrome 10 |
DOID:0061293 |
MONDO:equivalentTo |
Galloway-Mowat syndrome 10 |
|
MONDO:0009627,MONDO:0006025 |
| MONDO:0981197 |
meckel syndrome 9 |
DOID:0061294 |
MONDO:equivalentTo |
Meckel syndrome 9 |
|
MONDO:0018921,MONDO:0006025 |
| MONDO:0981198 |
meckel syndrome 10 |
DOID:0061295 |
MONDO:equivalentTo |
Meckel syndrome 10 |
|
MONDO:0018921,MONDO:0006025 |
| MONDO:0981199 |
meckel syndrome 11 |
DOID:0061296 |
MONDO:equivalentTo |
Meckel syndrome 11 |
|
MONDO:0018921,MONDO:0006025 |
| MONDO:0981200 |
meckel syndrome 12 |
DOID:0061297 |
MONDO:equivalentTo |
Meckel syndrome 12 |
|
MONDO:0018921,MONDO:0006025 |
| MONDO:0981201 |
retinitis pigmentosa 100 |
DOID:0061298 |
MONDO:equivalentTo |
retinitis pigmentosa 100 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0981202 |
retinitis pigmentosa 101 |
DOID:0061299 |
MONDO:equivalentTo |
retinitis pigmentosa 101 |
|
MONDO:0019200,MONDO:0006025 |
| MONDO:0981203 |
hermansky-pudlak syndrome 10 |
DOID:0061300 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome 10 |
|
MONDO:0019312 |
| MONDO:0981204 |
hermansky-pudlak syndrome 11 |
DOID:0061301 |
MONDO:equivalentTo |
Hermansky-Pudlak syndrome 11 |
|
MONDO:0019312 |
| MONDO:0981205 |
congenital hydrocephalus |
DOID:0070681 |
MONDO:equivalentTo |
congenital hydrocephalus |
A hydrocephalus characterized by fetal or congenital onset. |
MONDO:0001150 |
| MONDO:0981206 |
normal pressure hydrocephalus 1 |
DOID:0070687 |
MONDO:equivalentTo |
normal pressure hydrocephalus 1 |
|
MONDO:0000426,MONDO:0009366 |
| MONDO:0981207 |
autosomal recessive congenital indifference to pain |
DOID:0070688 |
MONDO:equivalentTo |
autosomal recessive congenital indifference to pain |
|
MONDO:0006025,MONDO:0005244 |
| MONDO:0981208 |
hereditary sensory and autonomic neuropathy type 2d |
DOID:0070689 |
MONDO:equivalentTo |
hereditary sensory and autonomic neuropathy type 2D |
A hereditary sensory and autonomic neuropathy type 2 characterized by congenital to pediatric onset of distal loss of pain and temperature sensation and variable autonomic dysfunction that has_material_basis_in homozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. |
MONDO:0019941 |
| MONDO:0981209 |
lobodontia |
DOID:0070690 |
MONDO:equivalentTo |
lobodontia |
|
MONDO:0000426,MONDO:0006999 |
| MONDO:0981210 |
craniosynostosis-scoliosis syndrome |
DOID:0070691 |
MONDO:equivalentTo |
craniosynostosis-scoliosis syndrome |
|
MONDO:0006025,MONDO:0005528 |
| MONDO:0981211 |
davis-wells syndrome |
DOID:0070692 |
MONDO:equivalentTo |
Davis-Wells syndrome |
|
MONDO:0002254,MONDO:0006025 |
| MONDO:0981212 |
ebstein-bezieau neurodevelopmental syndrome |
DOID:0070693 |
MONDO:equivalentTo |
Ebstein-Bezieau neurodevelopmental syndrome |
|
MONDO:0015802 |
| MONDO:0981213 |
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities |
DOID:0070694 |
MONDO:equivalentTo |
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities |
|
MONDO:0015802 |
| MONDO:0981214 |
yu-kury neurodevelopmental syndrome |
DOID:0070695 |
MONDO:equivalentTo |
Yu-Kury neurodevelopmental syndrome |
|
MONDO:0015802 |
| MONDO:0981215 |
neurodevelopmental disorder with seizures, hypotonia, and variable spasticity |
DOID:0070696 |
MONDO:equivalentTo |
neurodevelopmental disorder with seizures, hypotonia, and variable spasticity |
|
MONDO:0019502 |
| MONDO:0981216 |
neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter |
DOID:0070697 |
MONDO:equivalentTo |
neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter |
|
MONDO:0019502 |
| MONDO:0981217 |
x-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities |
DOID:0070698 |
MONDO:equivalentTo |
X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities |
|
MONDO:0020604,MONDO:0020119 |
| MONDO:0981218 |
stad syndrome |
DOID:0070699 |
MONDO:equivalentTo |
STAD syndrome |
|
MONDO:0002254,MONDO:0000426 |
| MONDO:0981219 |
luo-agrawal neurodevelopmental syndrome |
DOID:0070700 |
MONDO:equivalentTo |
Luo-Agrawal neurodevelopmental syndrome |
|
MONDO:0002254,MONDO:0006025 |
| MONDO:0981220 |
small fiber neuropathy |
DOID:0070701 |
MONDO:equivalentTo |
small fiber neuropathy |
|
MONDO:0005244 |
| MONDO:0981221 |
measles inclusion body encephalitis |
DOID:0070702 |
MONDO:equivalentTo |
measles inclusion body encephalitis |
|
MONDO:0006009,MONDO:0001773 |
| MONDO:0981222 |
meckel syndrome 14 |
DOID:0070703 |
MONDO:equivalentTo |
Meckel syndrome 14 |
|
MONDO:0018921,MONDO:0006025 |
| MONDO:0981223 |
zeitz-han retinal dystrophy |
DOID:0081462 |
MONDO:equivalentTo |
Zeitz-Han retinal dystrophy |
A retinal degeneration that is characterized by a variable retinal phenotypes, predominantly described as rod-cone dystrophy with some patients clinically diagnosed as having retinitis pigmentosa, but also including cases of cone-rod and cone dystrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the ubiquitin-associated protein (UBAP1L) gene on chromosome 15q22. |
MONDO:0004580 |