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