| 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:0979904 |
proximal renal tubular acidosis-ocular anomaly syndrome |
DOID:0061195 |
MONDO:equivalentTo |
proximal renal tubular acidosis-ocular anomaly syndrome |
|
MONDO:0001909,MONDO:0006025 |
| 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:0981052 |
fontaine progeroid syndrome |
DOID:0051067 |
MONDO:equivalentTo |
Fontaine progeroid syndrome |
A progeroid syndrome that is characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36. |
MONDO:0000426,MONDO:0015333 |
| MONDO:0981053 |
early-onset obesity, adrenal insufficiency, and red hair |
DOID:0051068 |
MONDO:equivalentTo |
early-onset obesity, adrenal insufficiency, and red hair |
A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23. |
MONDO:0002254,MONDO:0006025 |
| MONDO:0981054 |
meier-gorlin syndrome 9 |
DOID:0051069 |
MONDO:equivalentTo |
Meier-Gorlin syndrome 9 |
A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21. |
MONDO:0016817,MONDO:0006025 |
| MONDO:0981055 |
meier-gorlin syndrome 10 |
DOID:0051070 |
MONDO:equivalentTo |
Meier-Gorlin syndrome 10 |
A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. |
MONDO:0016817,MONDO:0006025 |
| MONDO:0981056 |
neurodevelopmental disorder with seizures and impaired intellectual and language development |
DOID:0051071 |
MONDO:equivalentTo |
neurodevelopmental disorder with seizures and impaired intellectual and language development |
An autosomal recessive intellectual developmental disorder that is characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features and that has_material_basis_in homozygous or compound heterozygous mutation in the JKAMP gene on chromosome 14q23. |
MONDO:0019502 |
| MONDO:0981057 |
neurodegenerative disorder with cerebellar and caudate atrophy |
DOID:0051072 |
MONDO:equivalentTo |
neurodegenerative disorder with cerebellar and caudate atrophy |
An autosomal dominant intellectual developmental disorder that is characterized by neurodegenerative features, including progressive ataxia, cognitive decline, and neuropathy, and a distinctive neuroradiologic phenotype with cerebellar and caudate atrophy and basal ganglia signal abnormalities and that has_material_basis_in heterozygous complex chromosome 16p13.3 rearrangement comprising a duplication with an embedded triplication involving at least the ATP6V0C gene. |
MONDO:0015802 |
| MONDO:0981058 |
dilated cardiomyopathy 3c |
DOID:0051073 |
MONDO:equivalentTo |
dilated cardiomyopathy 3C |
A dilated cardiomyopathy that is characterized by severe arrhythmogenic dilated cardiomyopathy (DCM) with onset as young as the teen years but usually in the third to fifth decades of life and that has_material_basis_in mutation in the gene encoding emerin (EMD) on chromosome Xq28. |
MONDO:0005021,MONDO:0000425 |
| MONDO:0981059 |
primary autosomal recessive microcephaly 31 |
DOID:0051074 |
MONDO:equivalentTo |
primary autosomal recessive microcephaly 31 |
A primary autosomal recessive microcephaly that is characterized by progressive small head circumference and poor overall postnatal growth and that has_material_basis_in homozygous mutation in the CDK4 gene on chromosome 12q14. |
MONDO:0016660 |
| MONDO:0981060 |
aggressive periodontitis 2 |
DOID:0051075 |
MONDO:equivalentTo |
aggressive periodontitis 2 |
An aggressive periodontitis that has_material_basis_in a locus is situated between D1S196 and D1S533 on chromosome 1q25. |
MONDO:0008226 |
| MONDO:0981061 |
neurodevelopmental disorder with parkinsonism or other movement abnormalities |
DOID:0051076 |
MONDO:equivalentTo |
neurodevelopmental disorder with parkinsonism or other movement abnormalities |
An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21. |
MONDO:0019502 |
| MONDO:0981062 |
diethylstilbestrol syndrome |
DOID:0051077 |
MONDO:equivalentTo |
diethylstilbestrol syndrome |
A reproductive system disease that is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women, in offspring or grandchildren of women exposed to diethylstilbestrol (DES) during pregnancy. |
MONDO:0005039 |
| MONDO:0981063 |
familial hyperaldosteronism |
DOID:0061247 |
MONDO:equivalentTo |
familial hyperaldosteronism |
|
MONDO:0003009 |
| MONDO:0981064 |
charcot-marie-tooth disease type 2kk |
DOID:0061251 |
MONDO:equivalentTo |
Charcot-Marie-Tooth disease type 2KK |
|
MONDO:0006025,MONDO:0018993 |
| MONDO:0981065 |
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech |
DOID:0061252 |
MONDO:equivalentTo |
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech |
|
MONDO:0019502 |
| MONDO:0981066 |
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures |
DOID:0061253 |
MONDO:equivalentTo |
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures |
|
MONDO:0015802 |
| MONDO:0981067 |
intellectual developmental disorder with seizures and dysmorphic facies |
DOID:0061254 |
MONDO:equivalentTo |
intellectual developmental disorder with seizures and dysmorphic facies |
|
MONDO:0015802 |
| MONDO:0981068 |
spondylocostal dysostosis 7 |
DOID:0061255 |
MONDO:equivalentTo |
spondylocostal dysostosis 7 |
|
MONDO:0006025,MONDO:0000359 |
| MONDO:0981069 |
congenital myopathy 25 |
DOID:0061256 |
MONDO:equivalentTo |
congenital myopathy 25 |
|
MONDO:0019952,MONDO:0006025 |
| MONDO:0981070 |
congenital myopathy 26 |
DOID:0061257 |
MONDO:equivalentTo |
congenital myopathy 26 |
|
MONDO:0019952,MONDO:0000426 |
| MONDO:0981071 |
congenital myopathy 27 |
DOID:0061258 |
MONDO:equivalentTo |
congenital myopathy 27 |
|
MONDO:0019952,MONDO:0006025 |
| MONDO:0981072 |
congenital myopathy 28 |
DOID:0061259 |
MONDO:equivalentTo |
congenital myopathy 28 |
|
MONDO:0019952,MONDO:0006025 |
| MONDO:0981073 |
congenital myopathy 29 |
DOID:0061260 |
MONDO:equivalentTo |
congenital myopathy 29 |
|
MONDO:0019952,MONDO:0006025 |
| MONDO:0981074 |
lethal congenital contracture syndrome 5 |
DOID:0061261 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 5 |
|
MONDO:0017436 |
| MONDO:0981075 |
lethal congenital contracture syndrome 6 |
DOID:0061262 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 6 |
|
MONDO:0017436 |
| MONDO:0981076 |
lethal congenital contracture syndrome 7 |
DOID:0061263 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 7 |
|
MONDO:0017436 |
| MONDO:0981077 |
lethal congenital contracture syndrome 8 |
DOID:0061264 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 8 |
|
MONDO:0017436 |
| MONDO:0981078 |
lethal congenital contracture syndrome 9 |
DOID:0061265 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 9 |
|
MONDO:0017436 |
| MONDO:0981079 |
lethal congenital contracture syndrome 10 |
DOID:0061266 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 10 |
|
MONDO:0017436 |
| MONDO:0981080 |
lethal congenital contracture syndrome 11 |
DOID:0061267 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 11 |
|
MONDO:0017436 |
| MONDO:0981081 |
lethal congenital contracture syndrome 12 |
DOID:0061268 |
MONDO:equivalentTo |
lethal congenital contracture syndrome 12 |
|
MONDO:0017436 |
| MONDO:0981082 |
periventricular nodular heterotopia 6 |
DOID:0061269 |
MONDO:equivalentTo |
periventricular nodular heterotopia 6 |
|
MONDO:0000426,MONDO:0020341 |
| MONDO:0981083 |
periventricular nodular heterotopia 7 |
DOID:0061270 |
MONDO:equivalentTo |
periventricular nodular heterotopia 7 |
|
MONDO:0000426,MONDO:0020341 |
| MONDO:0981084 |
weill-marchesani syndrome 1 |
DOID:0061273 |
MONDO:equivalentTo |
Weill-Marchesani syndrome 1 |
|
MONDO:0006025,MONDO:0018096 |
| MONDO:0981085 |
weill-marchesani syndrome 2 |
DOID:0061274 |
MONDO:equivalentTo |
Weill-Marchesani syndrome 2 |
|
MONDO:0000426,MONDO:0018096 |
| MONDO:0981086 |
weill-marchesani syndrome 3 |
DOID:0061275 |
MONDO:equivalentTo |
Weill-Marchesani syndrome 3 |
|
MONDO:0006025,MONDO:0018096 |
| MONDO:0981087 |
weill-marchesani syndrome 4 |
DOID:0061276 |
MONDO:equivalentTo |
Weill-Marchesani syndrome 4 |
|
MONDO:0006025,MONDO:0018096 |
| MONDO:0981088 |
senior-loken syndrome 1 |
DOID:0061277 |
MONDO:equivalentTo |
Senior-Loken syndrome 1 |
|
MONDO:0017842 |
| MONDO:0981089 |
senior-loken syndrome 4 |
DOID:0061278 |
MONDO:equivalentTo |
Senior-Loken syndrome 4 |
|
MONDO:0017842 |
| MONDO:0981090 |
senior-loken syndrome 5 |
DOID:0061279 |
MONDO:equivalentTo |
Senior-Loken syndrome 5 |
|
MONDO:0017842 |
| MONDO:0981091 |
senior-loken syndrome 6 |
DOID:0061280 |
MONDO:equivalentTo |
Senior-Loken syndrome 6 |
|
MONDO:0017842 |
| MONDO:0981092 |
senior-loken syndrome 7 |
DOID:0061281 |
MONDO:equivalentTo |
Senior-Loken syndrome 7 |
|
MONDO:0017842 |
| MONDO:0981093 |
senior-loken syndrome 8 |
DOID:0061282 |
MONDO:equivalentTo |
Senior-Loken syndrome 8 |
|
MONDO:0017842 |
| MONDO:0981094 |
senior-loken syndrome 9 |
DOID:0061283 |
MONDO:equivalentTo |
Senior-Loken syndrome 9 |
|
MONDO:0017842 |
| MONDO:0981095 |
autosomal recessive nonsyndromic deafness 122 |
DOID:0070669 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 122 |
|
MONDO:0019588 |
| MONDO:0981096 |
autosomal recessive nonsyndromic deafness 123 |
DOID:0070670 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 123 |
|
MONDO:0019588 |
| MONDO:0981097 |
autosomal recessive nonsyndromic deafness 117 |
DOID:0070671 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 117 |
|
MONDO:0019588 |
| MONDO:0981098 |
autosomal recessive nonsyndromic deafness 118 |
DOID:0070672 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 118 |
|
MONDO:0019588 |
| MONDO:0981099 |
autosomal recessive nonsyndromic deafness 119 |
DOID:0070673 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 119 |
|
MONDO:0019588 |
| MONDO:0981100 |
autosomal recessive nonsyndromic deafness 120 |
DOID:0070674 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 120 |
|
MONDO:0019588 |
| MONDO:0981101 |
autosomal recessive nonsyndromic deafness 121 |
DOID:0070675 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 121 |
|
MONDO:0019588 |
| MONDO:0981102 |
autosomal recessive nonsyndromic deafness 124 |
DOID:0070676 |
MONDO:equivalentTo |
autosomal recessive nonsyndromic deafness 124 |
|
MONDO:0019588 |
| MONDO:0981103 |
ferguson-bonni neurodevelopmental syndrome |
DOID:0070677 |
MONDO:equivalentTo |
Ferguson-Bonni neurodevelopmental syndrome |
|
MONDO:0000508,MONDO:0006025 |
| MONDO:0981104 |
congenital hypomyelinating neuropathy |
DOID:0070678 |
MONDO:equivalentTo |
congenital hypomyelinating neuropathy |
|
MONDO:0019056 |