Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Maternal uniparental disomy of chromosome 6 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Maternal uniparental disomy of chromosome 9 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Maternal uniparental disomy of chromosome 4 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Hypertrophy of right kidney co-occurrent and due to congenital hypoplasia of left kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Immunodeficiency due to ficolin 3 deficiency (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isochromosomy Yp |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolated cerebellar vermis hypoplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cortical dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cortical dysplasia with hemimegalencephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Paternal uniparental disomy of chromosome 21 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Metabolic myopathy due to lactate transporter defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Monosomy 13q34 syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Monosomy 13q34 syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multiple epiphyseal dysplasia due to collagen 9 anomaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Paternal uniparental disomy of chromosome 1 (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Paternal uniparental disomy of chromosome 7 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Localized cortical dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolated focal cortical dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Nijmegen breakage syndrome-like disorder (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Nijmegen breakage syndrome-like disorder (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multiple epiphyseal dysplasia with miniepiphyses |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Neuhauser anomaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Tetrasomy 5p syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Subaortic course of innominate vein |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Isolated unilateral hemispheric cerebellar hypoplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Carney complex, trismus, pseudocamptodactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Carney complex, trismus, pseudocamptodactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Carney complex, trismus, pseudocamptodactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Trichoodontoonychial dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Trichoodontoonychial dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Trichoodontoonychial dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Trichoodontoonychial dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Diencephalic mesencephalic junction dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Diencephalic mesencephalic junction dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Cono-spondylar dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cono-spondylar dysplasia (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 67 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 67 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Trichodysplasia xeroderma syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Trichodysplasia xeroderma syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Combined immunodeficiency due to OX40 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
2q23.1 microduplication syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Short stature due to growth hormone secretagogue receptor deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
X-linked non progressive cerebellar ataxia (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
familjär lambdoideasynostos |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
familjär lambdoideasynostos |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Severe lateral tibial bowing with short stature |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Severe lateral tibial bowing with short stature |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Epiphyseal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia with multiple dislocations |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
X small rings |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked cleft palate and ankyloglossia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
X-linked cleft palate and ankyloglossia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Familial supernumerary nipple |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
X-linked distal spinal muscular atrophy type 3 (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Radio-renal syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Radio-renal syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
1p31p32 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
1p31p32 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Hypomyelination neuropathy arthrogryposis syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Hypomyelination neuropathy arthrogryposis syndrome (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Hypomyelination neuropathy arthrogryposis syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of right hip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of left hip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital absence of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of lower leg and foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital absence of lower leg and foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of right foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Multicentric carpotarsal osteolysis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Dysplasia of lung |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital pes cavus of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital pes cavus of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital pes cavus of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Tetralogy of Fallot with pulmonary stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Tetralogy of Fallot with pulmonary stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Tetralogy of Fallot with absent pulmonary valve (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Tetralogy of Fallot with absent pulmonary valve (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Tetralogy of Fallot with absent pulmonary valve (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Tetralogy of Fallot with pulmonary atresia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Tetralogy of Fallot with pulmonary atresia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Congenital pes cavus |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital macrostomia of right side of mouth (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
6 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |