Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Cortical dysplasia with focal epilepsy syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Diaphyseal medullary stenosis with bone malignancy |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
4 |
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Brachymorphism with onychodysplasia and dysphalangism syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Curly hair, acral keratoderma, caries syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Fibroblast growth factor receptor 2-related bent bone dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Yunis-Varon dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
McCune Albright syndrome |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Intermandibular dysostosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Smith McCort dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Cheirospondyloenchondromatosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Grant syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple epiphyseal dysplasia Beighton type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Spondyloepiphyseal dysplasia Reardon type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Acromesomelic dysplasia Hunter-Thompson type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Chondrodysplasia with disorder of sex development syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Craniolenticulosutural dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Odonto-tricho-ungual-digito-palmar syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Spondyloepiphyseal dysplasia tarda Kohn type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Metaphyseal dysplasia Braun Tinschert type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Intellectual disability, balding, patella luxation, acromicria syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
4 |
Lipodystrophy, intellectual disability, deafness syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Teebi Shaltout syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Teebi Shaltout syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Cerebellar ataxia co-occurrent with ectodermal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Temtamy preaxial brachydactyly syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
4 |
Metaphyseal chondrodysplasia, Sedaghatian type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Atelosteogenesis type 1 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Ackerman syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Schimke immuno-osseous dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Acrofacial dysostosis Rodriguez type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Acrofacial dysostosis Rodriguez type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Bilateral secondary renal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Acromicric dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Spondyloperipheral dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Hay-Wells syndrome of ectodermal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Long thumb brachydactyly syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Filippi syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Moynahan's syndrome |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Melhem Fahl syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Doughnut lesion of calvaria and bone fragility syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Postaxial tetramelic oligodactyly |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Ameloonychohypohidrotic syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Lissencephaly type 3 metacarpal bone dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Ehlers-Danlos syndrome musculocontractural type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Thoracolaryngopelvic dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Brachydactyly, short stature, retinitis pigmentosa syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Carbohydrate sulfotransferase 3 related skeletal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Acrocraniofacial dysostosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Odontotrichomelic syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Chondroectodermal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Chondroectodermal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Ectodermal dysplasia with natal teeth Turnpenny type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Brittle cornea syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Cleidocranial dysostosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
4 |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Cortical dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Cerebro-facio-thoracic dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Cerebro-facio-thoracic dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Thrombocythemia with distal limb defect |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Pili torti onychodysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Pili torti onychodysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Pyknoachondrogenesis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive cutis laxa type 2B |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive omodysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Chondrodysplasia punctata, X-linked dominant type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Spondylocamptodactyly syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Isolated focal cortical dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Mixed sclerosing bone dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Terminal osseous dysplasia and pigmentary defect syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Brittle hair-impaired intellect-decreased fertility-short stature syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Gnathodiaphyseal dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked dominant chondrodysplasia Chassaing Lacombe type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Internasal dysostosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Hip dysplasia Beukes type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Hip dysplasia Beukes type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Ischio-vertebral syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |
Alopecia, contracture, dwarfism, intellectual disability syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Hepatoportal microvascular dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
1 |
8q13 microdeletion syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
3 |
Splenogonadal fusion, limb defect, micrognathia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
5 |
Bilateral renal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier |
2 |