Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Proximal femoral focal deficiency |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Caudal appendage deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Caudal appendage deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Caudal appendage deafness syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Common arterial trunk with aortic dominance |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Brachydactyly and arterial hypertension syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Triplication of appendix |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dyschondrosteosis and nephritis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dyschondrosteosis and nephritis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Manus extensa |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Patterson Stevenson Fontaine syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Aglossia-adactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum and aberrant right subclavian artery |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Potter sequence cleft lip and palate cardiopathy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Double mitral valve |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Split hand, split foot malformation with sensorineural hearing loss syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Incomplete ossification of supraoccipital bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple malformation syndrome with facial-limb defects as major feature |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Incomplete ossification of centrum of lumbar vertebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pre-eruptive color change of tooth |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Mesomelic dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Trigonocephaly with bifid nose and acral anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Trigonocephaly with bifid nose and acral anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Trigonocephaly with bifid nose and acral anomaly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Spinocerebellar ataxia type 34 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Junctional epidermolysis bullosa gravis of Herlitz |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Camptodactyly and tall stature with scoliosis and hearing loss syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Camptodactyly and tall stature with scoliosis and hearing loss syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Camptodactyly and tall stature with scoliosis and hearing loss syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Roger's disease |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Bone dysplasia lethal Holmgren type |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thrombocytopathy, asplenia and miosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Auricular abnormality, cleft lip, ocular abnormality syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Auricular abnormality, cleft lip, ocular abnormality syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Fucosidosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Brittle cornea syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital postural lordosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital hypoplasia of cardiac ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Atrioventricular septal defect - ventricular component under inferior bridging leaflet |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Absent thumb with short stature and immunodeficiency syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Absent thumb with short stature and immunodeficiency syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Persisting fifth aortic arch with atresia of fourth arch |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital fistula between uterus and urinary tract |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital chorioretinal degeneration |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Incomplete ossification of tarsal bone |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital nuclear ophthalmoplegia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniodiaphyseal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Achondrogenesis, type II |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Grebe syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Vitelline duct polyp |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Sandman-Andra syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Rolland-Debuqois syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Hypoplasia of uterus and cervix |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Supernumerary fused sternebra |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Complete bilateral cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Complete bilateral cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant brachyolmia |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Autosomal dominant brachyolmia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Uterus subseptus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Inverse junctional epidermolysis bullosa |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple café-au-lait macules due to neurofibromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple café-au-lait macules due to neurofibromatosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Tracheal origin of right upper lobe bronchus |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
3 |
Uterus cordiformis |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Kartagener syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral renal dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Polyvalvular heart disease syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Complete situs inversus with dextrocardia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Thanatophoric dysplasia, type 2 |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital pericardial defect |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Dysplasias with significant membranous bone involvement |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Skeletal dysplasia brachydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Branchial cleft, cyst or fistula; preauricular sinus |
Occurrence |
False |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Holoprosencephaly and postaxial polydactyly syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Short tarsus with absence of lower eyelashes syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital pulmonary artery conduit |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Agenesis of right kidney co-occurrent with hypoplasia of left kidney |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Smith McCort dysplasia |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
2 |
Cleft soft palate with right cleft lip |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |
Overgrowth, macrocephaly, facial dysmorphism syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Existential restriction modifier |
1 |