Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Deletion of part of chromosome 15 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deletion of part of chromosome 16 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deletion of part of short arm of chromosome 16 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Deletion of part of short arm of chromosome 16 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Deletion of part of chromosome 17 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deletion of part of short arm of chromosome 17 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Deletion of part of short arm of chromosome 17 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Deletion of part of chromosome 18 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deletion of part of chromosome 19 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deletion of long arm of chromosome 19 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Deletion of long arm of chromosome 19 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Deletion of short arm of chromosome 19 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Deletion of short arm of chromosome 19 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Deletion of part of chromosome 20 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deletion of part of long arm of chromosome 20 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Deletion of part of long arm of chromosome 20 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Deletion of part of short arm of chromosome 20 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Deletion of part of short arm of chromosome 20 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Deletion of part of chromosome 21 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Deletion of part of chromosome 22 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Uniparental disomy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital malposition of eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dystopia canthorum |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dysostosis of bone of skull |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of maxilla |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of mandible |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Autosomal dominant spastic paraplegia type 10 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Autosomal dominant spastic paraplegia type 6 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Ichthyosis, oral and digital anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Ichthyosis, oral and digital anomalies syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Ichthyosis, oral and digital anomalies syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Mitochondrial myopathy, lactic acidosis, deafness syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Congenital cataract ichthyosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital cataract ichthyosis syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Ectodermal dysplasia and sensorineural deafness syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Ectodermal dysplasia and sensorineural deafness syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Osteopenia, intellectual disability, sparse hair syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Osteopenia, intellectual disability, sparse hair syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Osteopenia, intellectual disability, sparse hair syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Symphalangism with multiple anomalies of hands and feet |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Sillence syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Sillence syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Brachydactyly and preaxial hallux varus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Brachydactyly and preaxial hallux varus syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Spastic paraplegia with precocious puberty syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
Lambert syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomaly of nose |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of nasal sinuses |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of ocular adnexa |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of digestive organ |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of mouth |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of duodenum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of palate |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of peritoneum |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of gastrointestinal tract |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of cornea |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of lens |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Familial infantile myasthenia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Acetylcholine resynthesis deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital secondary hydronephrosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Micropapilla |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of posterior segment of eye |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Autosomal dominant spastic paraplegia type 29 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital hypoplasia of ulna and split foot syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Congenital hypoplasia of ulna and split foot syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Congenital hypoplasia of ulna and split foot syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Epilepsy telangiectasia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Epilepsy telangiectasia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Epilepsy telangiectasia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Epilepsy telangiectasia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Spinocerebellar ataxia dysmorphism syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Congenital anomaly of talus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Spinocerebellar ataxia dysmorphism syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Spinocerebellar ataxia dysmorphism syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Spinocerebellar ataxia dysmorphism syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Charlie M syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Charlie M syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Charlie M syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Charlie M syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
German syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
German syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
German syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
German syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Dysmorphism, pectus carinatum, joint laxity syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
Dysmorphism, pectus carinatum, joint laxity syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
6 |
Dysmorphism, pectus carinatum, joint laxity syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
7 |
Dysmorphism, pectus carinatum, joint laxity syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
8 |
Congenital coronary artery fistula to left atrium |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital coronary artery fistula to left ventricle |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital coronary artery fistula to right atrium |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital coronary artery fistula to right ventricle |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Juxtaposed atrial appendage |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital pulmonary vein confluence |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital pulmonary venous atrium |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital systemic venous atrium |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|