Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Frank-Ter Haar syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Frank-Ter Haar syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Cervical thymic remnant |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Osteodysplastic primordial dwarfism, type 2 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Manus flexa |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Duplex kidney with reflux in both ureters |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dolichocephalic dwarfism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atrioventricular septal defect: atrial and ventricular components |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lethal faciocardiomelic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lethal faciocardiomelic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Metaphyseal chondrodysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Marie Unna syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Arteriovenous malformation of maxilla |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloepimetaphyseal dysplasia Missouri type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital anosmia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thoracic spina bifida with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ackerman syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ackerman syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Crouzon syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Crouzon syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ruptured spinal arteriovenous malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Macrostomia, preauricular tag, external ophthalmoplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Senter syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fibrolipoma of filum terminale |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondylodysplastic group |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thoracic aortic coarctation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypoplasia of left heart without intrinsic valve stenosis and without atresia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of humerus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Basal epidermolysis bullosa simplex |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Goltz syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Simple syndactyly of toes second to fourth web |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Puerto Rican infant hypotonia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Puerto Rican infant hypotonia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Puerto Rican infant hypotonia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Fried's tooth and nail syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Radioulnar synostosis and dislocation of radial head |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Radioulnar synostosis and dislocation of radial head |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Truncal valve dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thickened earlobe with conductive deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thickened earlobe with conductive deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Auriculo-condylar syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pili torti with developmental delay and neurological abnormality syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Constriction ring of lower limb with lymphedema |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Coronary orifice asymmetrical |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Arthrogryposis with renal dysfunction and cholestasis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Meckel's diverticulum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cleft palate with short stature and vertebral anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Thanatophoric dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cataract with deafness and hypogonadism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital cataract with deafness and hypogonadism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Accessory liver |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dicephalus dipus dibrachius |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudoaminopterin syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Pseudoaminopterin syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Pseudoaminopterin syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital pectus excavatum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Juvenile GM1 gangliosidosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thoracolaryngopelvic dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Thoracolaryngopelvic dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Acrorenoocular syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Acrorenoocular syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypergonadotropic hypogonadism with cataract syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Van den Bosch syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Van den Bosch syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Van den Bosch syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Congenital abnormal retraction of eyelid |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Defects of the tubular (and flat) bones and/or axial skeleton |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudohypoparathyroidism type II |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Imperforate anus |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Focal nodular hypoplasia of liver |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aspartylglucosaminuria |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cystic bronchiectasis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dysplasia with decreased bone density |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hip dysplasia with enchondromata and ecchondroma syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Decreased anogenital distance |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Amyotrophia congenita |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Brachyolmia type 1 Toledo type |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Brachyolmia type 1 Toledo type |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital pyloric membrane |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cerebral arteriovenous aneurysm |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Amelogenesis imperfecta co-occurrent with cone rod dystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudohermaphroditism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |