Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Diencephalic mesencephalic junction dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Diencephalic mesencephalic junction dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Retinal arteriovenous malformation |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital anomaly of optic nerve |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Cono-spondylar dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Cono-spondylar dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Autosomal recessive spastic paraplegia type 67 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Autosomal recessive spastic paraplegia type 67 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Trichodysplasia xeroderma syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Macropalpebral fissure |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Trichodysplasia xeroderma syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Ectopic cilia of eyelid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Combined immunodeficiency due to OX40 deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
2q23.1 microduplication syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Short stature due to growth hormone secretagogue receptor deficiency |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenitally small punctum lacrimale |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
X-linked non progressive cerebellar ataxia |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Familial lambdoid synostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
Familial lambdoid synostosis |
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 |
Congenital displacement of punctum lacrimale |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Spondyloepimetaphyseal dysplasia with multiple dislocations |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Small ring X chromosome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital diverticulum of lacrimal canaliculus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
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 |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
Congenital obstruction of lacrimal canal |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Radio-renal syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Radio-renal syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital strabismus |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
1p31p32 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
1p31p32 microdeletion syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Hypomyelination neuropathy arthrogryposis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Hypomyelination neuropathy arthrogryposis syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
Hypomyelination neuropathy arthrogryposis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital anomaly of third eyelid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital cartilage anomaly of third eyelid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hypopigmentation of third eyelid |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Developmental dysplasia of inner ear |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Low set ears |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Pseudoporphyria |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital dislocation of right hip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of left hip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital brain damage |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital flaccid paralysis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Epstein's pearl of mouth |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Hypoplasia of iris |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Congenital absence of left foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of lower leg and foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital absence of lower leg and foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital absence of right foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital hearing disorder |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital deafness |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
Facial hemiatrophy |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
|
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 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital pes cavus of bilateral feet |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Congenital pes cavus of left foot |
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 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Tetralogy of Fallot with absent pulmonary valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Tetralogy of Fallot with absent pulmonary valve |
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 |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
6 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Ablepharon macrostomia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Fallot complex with intellectual disability and growth delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Fallot complex with intellectual disability and growth delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Fallot complex with intellectual disability and growth delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Congenital pes cavus of right foot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Telecanthus, hypertelorism, strabismus, pes cavus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Tetralogy of Fallot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
Tetralogy of Fallot |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Congenital pulmonary acinar dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
Ventricular septal defect in Fallot's tetralogy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
Ventricular septal defect in Fallot's tetralogy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
Moebius syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |