Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Ectodermal dysplasia with hair-nail defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spina bifida aperta |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital cystic adenomatoid malformation of lung |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Cholestasis with pigmentary retinopathy and cleft palate syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Chondrodysplasia punctata, tibia-metacarpal type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cervical thyroid remnant |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Macrocephaly, short stature, paraplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Macrocephaly, short stature, paraplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
6 |
Macrocephaly, short stature, paraplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Macrocephaly, short stature, paraplegia syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Macrocephaly, short stature, paraplegia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Pretibial epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Weber's true diffuse phlebarteriectasis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital deformity of foot and ankle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofrontonasal dysplasia with Poland anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofrontonasal dysplasia with Poland anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Craniofrontonasal dysplasia with Poland anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant hypophosphatemic bone disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital rectovesical fistula |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mitral leaflet dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Phocomelia Schinzel type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital wide symphysis pubis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Epidermolysis bullosa simplex with muscular dystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Epidermolysis bullosa simplex with muscular dystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital neuropathy with arthrogryposis multiplex congenita |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aniridia type 1 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hydrocephalus associated with congenital aqueduct stenosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atresia of pulmonary trunk with absent right pulmonary artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mullerian duct and limb anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Microdysgenesis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Oromandibular-limb hypogenesis spectrum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Oromandibular-limb hypogenesis spectrum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hypertelorism with microtia and facial clefting syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Isolated hereditary congenital facial paralysis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fibulo-ulnar hypoplasia and renal anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Fibulo-ulnar hypoplasia and renal anomalies syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital atresia of aqueduct of Sylvius |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral deficient infundibula |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloocular syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Glanular hypospadias |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Caudal regression syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bilateral incomplete cleft palate with cleft lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral incomplete cleft palate with cleft lip |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Cystic hygroma |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Displacement of Wharton's duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Displacement of Wharton's duct |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Haddad syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Haddad syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Hypertrichosis and acromegaloid facial appearance syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypertrichosis and acromegaloid facial appearance syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
14q22q23 microdeletion syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
5 |
Malformation of throat |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniosynostosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hirschsprung disease of rectosigmoid region |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hirschsprung disease of rectosigmoid region |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Phakomatosis spilorosea |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Phakomatosis spilorosea |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Right ventricular outflow tract obstruction |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Flat birthmark |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectopic gastric mucosa - multiple sites |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Adducted thumbs and arthrogryposis syndrome Christian type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Adducted thumbs and arthrogryposis syndrome Christian type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Adducted thumbs and arthrogryposis syndrome Christian type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Complete perimaxillary faciosynostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ablepharon macrostomia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Lumbar spina bifida with hydrocephalus - open |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |
Blepharocheilodontic syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Acropectororenal dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Acropectororenal dysplasia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Muscular ventricular septal defect in inlet septum |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Diaphyseal medullary stenosis with bone malignancy |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniolacunia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital asymmetry of forehead |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atelosteogenesis type 3 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Torg type osteolysis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital stenosis of larynx, trachea and bronchus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Persistent tuberculum impar |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Filippi syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Filippi syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Filippi syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Timothy syndrome type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Central serous retinopathy with pit of optic disc |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Global developmental delay, osteopenia, ectodermal defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aplasia cutis congenita with epibulbar dermoid syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Osteogenesis imperfecta, type IV B |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Anophthalmia plus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital failure of eye elevation |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of radius |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Infantile osteopetrosis with neuroaxonal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Deafness, enamel hypoplasia, nail defect syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Deafness, enamel hypoplasia, nail defect syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
4 |