Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Melorheostosis of bilateral femurs |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Melorheostosis of skull |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of knee (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of right knee |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of left knee |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of shoulder region |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of foot |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of left foot |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of right foot |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of bilateral feet (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of bilateral feet (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital dysplasia of joint of left shoulder region |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of joint of right shoulder region (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of right ankle joint (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of ankle joint (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital dysplasia of left ankle joint (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
2 |
Mild bronchopulmonary dysplasia of newborn |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Moderate bronchopulmonary dysplasia of newborn |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe bronchopulmonary dysplasia of newborn (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of left rib |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of right rib |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of rib |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of bone of right hand |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of bone of hand (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of bone of left hand |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of bone of left forearm |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of bone of right forearm (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of bone of forearm |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Surgical margin involved by dysplasia in excised tissue specimen |
Relative to (attribute) |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
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 |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral congenital ankle joint dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral congenital ankle joint dysplasia |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Melorheostosis of right shoulder region |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of left shoulder region (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Melorheostosis of shoulder region (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) |
Associated morphology |
True |
Dysplasia |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |