| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Spondyloepiphyseal dysplasia tarda Kohn type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Mitral leaflet dysplasia |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Spondyloocular syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Blepharocheilodontic syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Atelosteogenesis type 3 (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Deafness, enamel hypoplasia, nail defect syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Short rib-polydactyly syndrome, Majewski type |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Ehlers-Danlos syndrome with periventricular heterotopia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Ehlers-Danlos syndrome cardiac valvular type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Kozlowski spondylometaphyseal dysplasia |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Book syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Ehlers-Danlos and osteogenesis imperfecta syndrome |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Ehlers-Danlos and osteogenesis imperfecta syndrome |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| dysostose acrofaciale type Rodríguez |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Bone dysplasia Azouz type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Mitral valve dysplasia |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Lipodystrophy, intellectual disability, deafness syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| syndrome d'Ehlers-Danlos type progéroïde |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| syndrome d'Ehlers-Danlos type progéroïde |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Ehlers-Danlos syndrome kyphoscoliotic type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Oculootoradial syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Scypho-patellar dysplasia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Coxoauricular syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Ehlers-Danlos syndrome vascular-like type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Dyschondrosteosis and nephritis syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Patterson Stevenson Fontaine syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Bone dysplasia lethal Holmgren type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Brittle cornea syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Smith McCort dysplasia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Dysspondyloenchondromatosis (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Spondyloepimetaphyseal dysplasia Irapa type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Czech dysplasia metatarsal type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Cerebro-facio-thoracic dysplasia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Spondyloenchondrodysplasia with immune dysregulation |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Johnson neuroectodermal syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Ulna fibula ray defect and brachydactyly syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Dermatofibrosis lenticularis disseminata |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Anonychia with bizarre flexural pigmentation |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Camptomelic dysplasia |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Frontonasal dysplasia sequence |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Autosomal recessive popliteal pterygium syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Robinow-like syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Craniolenticulosutural dysplasia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Moynahan's syndrome |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Osteopenia, intellectual disability, sparse hair syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Short stature Brussels type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Chondrodysplasia with disorder of sex development syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Oculotrichodysplasia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Dacryocystitis and osteopoikilosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Acrofrontofacionasal dysostosis type 2 |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Ehlers-Danlos syndrome with periventricular heterotopia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Hidrotic ectodermal dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Limb mammary syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Doughnut lesion of calvaria and bone fragility syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Ehlers-Danlos syndrome musculocontractural type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Coloboma of macula with brachydactyly type B syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Campomelia Cumming type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Metaphyseal chondrodysplasia, McKusick type |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Ossification anomaly with psychomotor developmental delay syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Trichodysplasia with amelogenesis imperfecta syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| Frank-Ter Haar syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Thoracolaryngopelvic dysplasia |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Ectodermal dysplasia with blindness syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Hay-Wells syndrome of ectodermal dysplasia (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Heart-hand syndrome type 2 (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Sparse hair with short stature and skin anomaly syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
2 |
| Heart-hand syndrome Slovenian type (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| Renal dysplasia with limb defect syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
| McCune Albright syndrome (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
3 |
| X-linked mandibulofacial dysostosis (disorder) |
morphologie associée (attribut) |
False |
Congenital dysplasia |
Inferred relationship |
Some |
1 |
FHIR