Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Overgrowth, macrocephaly, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypomandibular faciocranial dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lumbar spina bifida with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Dysspondyloenchondromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Anomalous pulmonary venous drainage to hepatic veins |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Transient mitral regurgitation of newborn |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Juvenile idiopathic generalized osteoporosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Persistent thyroglossal duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Nager syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Female pseudohermaphroditism |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Encephalocele of orbit |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital pontocerebellar hypoplasia type 6 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Generalized macrodontia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Beals auriculo-osteodysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Omphalomesenteric duct cyst |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloepimetaphyseal dysplasia Irapa type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Muscle-eye-brain disease, congenital muscular dystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of centrum of sacral vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ossification anomaly with psychomotor developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ossification anomaly with psychomotor developmental delay syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Persistent aortic arch convolutions |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Odontoma dysphagia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Basan syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Camptodactyly syndrome Guadalajara type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Camptodactyly syndrome Guadalajara type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Camptodactyly syndrome Guadalajara type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Cervical spinal hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Cervical spinal hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multinodular goiter, cystic kidney, polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Multinodular goiter, cystic kidney, polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multinodular goiter, cystic kidney, polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Interrupted aortic arch between left common carotid and brachiocephalic artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Abnormal communication between pericardial sac and peritoneal cavity |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Czech dysplasia metatarsal type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multirooted tooth with divergent roots |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Absent tibia, polydactyly, arachnoid cyst syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Absent tibia, polydactyly, arachnoid cyst syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudo-Hurler polydystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Rachischisis with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Rachischisis with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Rachischisis with hydrocephalus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Branchioskeletogenital syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Branchioskeletogenital syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Capillary-venous-lymphatic malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Capillary-venous-lymphatic malformation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Supernumerary cusp |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aplasia of muscle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Right ventricular outflow tract obstruction due to common atrioventricular valve |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Ectodermal dysplasia, syndactyly and pili torti |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Anodontia of permanent dentition |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of tibia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypogonadism with prune belly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Spondyloepimetaphyseal disorder |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Kallman syndrome with heart disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Spina bifida |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital horizontal mandibular hypoplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Muscular ventricular septal defect in central trabecular septum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cerebro-facio-thoracic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cerebro-facio-thoracic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Polyorchism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloenchondrodysplasia with immune dysregulation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Double kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Progressive junctional epidermolysis bullosa (neurotrophic) |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple neurofibromas in neurofibromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Multiple neurofibromas in neurofibromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Diffuse hypoplasia of right ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Amelogenesis imperfecta, pigmented hypomaturation type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Low assimilation pelvis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Johnson neuroectodermal syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Tibial aplasia and ectrodactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atrial septal defect, atrioventricular conduction defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Enamel-renal syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Rud's syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bent bone dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fibrochondrogenesis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectopic glial tissue |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Peutz-Jeghers syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Hypodontia and nail dysgenesis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Nasopalpebral lipoma coloboma syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cervical, vaginal and external female genital anomalies |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Myeloschisis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Frontofacionasal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ulna fibula ray defect and brachydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Ulna fibula ray defect and brachydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |