Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Melorheostosis of bilateral femurs (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Melorheostosis of skull |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of knee (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of right knee (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of left knee (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of shoulder region |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of foot |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of left foot (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of right foot (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of bilateral feet (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of bilateral feet (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Congenital dysplasia of joint of left shoulder region |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of joint of right shoulder region (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of right ankle joint (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of ankle joint (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of left ankle joint (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Mild bronchopulmonary dysplasia of newborn |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Moderate bronchopulmonary dysplasia of newborn |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Severe bronchopulmonary dysplasia of newborn |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of left rib (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of right rib (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of rib |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of bone of right hand (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of bone of hand (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of bone of left hand |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of bone of left forearm |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of bone of right forearm |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of bone of forearm |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Surgical margin involved by dysplasia in excised tissue specimen (observable entity) |
This attribute is used to specify the denominator of a relational property type, such as a ratio or proportion. |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
3 |
Congenital dysplasia of bilateral ankle joints (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Congenital dysplasia of bilateral ankle joints (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
Melorheostosis of right shoulder region |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of left shoulder region (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Melorheostosis of shoulder region (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
2 |
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Some |
1 |