Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Rhizomelic chondrodysplasia punctata type 1 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Sabinas brittle hair syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 2 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Rhizomelic chondrodysplasia punctata type 3 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Developmental dysplasia of left hip |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Developmental dysplasia of right hip |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Bilateral dysplastic hip |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Stickler syndrome type 1 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Oculo-auriculo-vertebral spectrum |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Stickler syndrome type 2 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Stickler syndrome type 4 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Mesomelic dysplasia of upper limb |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
High grade dysplasia |
Is a |
True |
Dysplasia |
Inferred relationship |
Some |
|
Low grade dysplasia |
Is a |
True |
Dysplasia |
Inferred relationship |
Some |
|
Cystic dysplasia of kidney |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
LRP5-related primary osteoporosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Craniofrontonasal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Craniofrontonasal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
SIX2-related frontonasal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Incontinentia pigmenti syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Chitty Hall Baraitser syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Kosaki overgrowth syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Oral-facial-digital syndrome with short stature and brachymesophalangia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Conductive deafness, ptosis, skeletal anomalies syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
4 |
NEK9-related lethal skeletal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
7 |
Mucopolysaccharidosis-like plus disease |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Sugarman brachydactyly |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
3 |
Tubulinopathy-associated dysgyria |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Tubulinopathy-associated dysgyria |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Unilateral multicystic renal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Osteogenesis imperfecta type IIC |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis with osteopoikilosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Hallermann Streiff like syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Steel syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of spine |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of right foot |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of left foot |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of right lower leg |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of left lower leg |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Eye defects, arachnodactyly, cardiopathy syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Microcephalic osteodysplastic primordial dwarfism type II |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Autosomal dominant deafness with onychodystrophy syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Bilateral congenital dysplasia of upper limbs |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Bilateral congenital dysplasia of upper limbs |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Congenital dysplasia of right upper limb |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of left upper limb |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Mandibulofacial dysostosis with alopecia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Hyperostosis cranialis interna |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Severe myopia, generalised joint laxity, short stature syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
QRICH1-related intellectual disability, chondrodysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Early-onset calcifying leucoencephalopathy, skeletal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Complex lethal osteochondrodysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Spondyloepiphyseal dysplasia Stanescu type |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Supratip dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Frontorhiny |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Femur fibula ulna complex |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Isolated osteopoikilosis |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Osteofibrous dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Dermatosparaxis Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Dermatosparaxis Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Presence of dysplasia at surgical margin of excised tissue specimen |
Component |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Presence of dysplasia at surgical margin in colectomy specimen |
Component |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Surgical margin involved by dysplasia in excised tissue specimen |
Relative to |
True |
Dysplasia |
Inferred relationship |
Some |
5 |
Regressive spondylometaphyseal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Osteosclerotic metaphyseal dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
3 |
Spondylodysplastic Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Spondylodysplastic Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Myopathic Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Myopathic Ehlers-Danlos syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Classical-like Ehlers-Danlos syndrome type 2 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Classical-like Ehlers-Danlos syndrome type 2 |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Oculocerebrodental syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
3 |
EVEN-plus syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
EVEN-plus syndrome |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Cemental dysplasia |
Is a |
False |
Dysplasia |
Inferred relationship |
Some |
|
Biliary tract dysplasia |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
1 |
Mild biliary tract dysplasia |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
1 |
Moderate biliary tract dysplasia |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
1 |
Severe biliary tract dysplasia |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
1 |
Dysplasia of colon |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
1 |
Mild dysplasia of colon |
Associated morphology |
False |
Dysplasia |
Inferred relationship |
Some |
1 |