Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital leg length discrepancy (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Leg length inequality |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Scoliotic angulation of ribs |
Associated morphology |
False |
Deformity |
Inferred relationship |
Some |
2 |
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Anterior vertebral body tethering |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Blepharophimosis, intellectual disability syndrome (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Chest deformity due to ankylosing spondylitis |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Deformity of chest due to kyphoscoliosis (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Constriction ring of upper limb with acrosyndactyly and amputation |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
4 |
Constriction ring syndrome of lower limb with amputation |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Constricting band of extremity (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Constriction ring syndrome of lower limb |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Constriction ring syndrome of upper limb |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Deformity of toe due to amniotic band (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Deformity of digit of hand due to amniotic band (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Congenital crumpled ear |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Deformity of fibrous joint (finding) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Deformity of left foot |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Deformity of right foot (finding) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Constriction ring of lower limb with lymphedema |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Constriction ring of upper limb with lymphedema |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Acute hydrops keratoconus of bilateral eyes (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
4 |
Acute hydrops keratoconus of bilateral eyes (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
5 |
Unstable keratoconus of left eye |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Unstable keratoconus of bilateral eyes (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Unstable keratoconus of bilateral eyes (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Stable keratoconus of left eye |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Stable keratoconus of right eye (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral stable keratoconus of eyes |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral stable keratoconus of eyes |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Unstable keratoconus of right eye |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Closed mallet fracture of distal phalanx of middle finger of left hand |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Closed mallet fracture of distal phalanx of middle finger of right hand (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Open mallet fracture of distal phalanx of little finger of right hand (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Open mallet fracture of distal phalanx of ring finger |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Open mallet fracture of distal phalanx of middle finger of right hand (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Open mallet fracture of distal phalanx of middle finger of left hand (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Open mallet fracture of distal phalanx of ring finger of left hand (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Open mallet fracture of distal phalanx of ring finger of right hand |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Bilateral congenital vertical talus |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Bilateral congenital vertical talus |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
4 |
Coxa magna of right femur |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Coxa magna of left femur |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Bilateral congenital deformity fingers |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral congenital deformity fingers |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Rhizomelic chondrodysplasia punctata type 1 |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Rhizomelic chondrodysplasia punctata type 2 |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Rhizomelic chondrodysplasia punctata type 3 |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Congenital talipes equinus |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Lengthening of left side of nasal columella |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Lengthening of right side of nasal columella |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Rotational deformity of cervical spine (finding) |
Associated morphology |
False |
Deformity |
Inferred relationship |
Some |
1 |
Acquired deformity of left thigh |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Acquired deformity of right thigh (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Acquired deformity of bilateral lower legs (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Acquired deformity of bilateral lower legs (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Bilateral acquired deformity of hip regions |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral acquired deformity of hip regions |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Acquired deformity of hip joint (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Acquired deformity of hip region (disorder) |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral acquired deformity of knee regions |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral acquired deformity of knee regions |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Bilateral acquired deformity of ribs |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral acquired deformity of ribs |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Bilateral acquired deformity of upper arms |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Bilateral acquired deformity of upper arms |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Rotational deformity of lumbar spine (finding) |
Associated morphology |
False |
Deformity |
Inferred relationship |
Some |
1 |
Congenital curly toes |
Associated morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Correction of curly fifth toe |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Reconstruction of cleft foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Release of subtalar joint for correction congenital deformity of foot (procedure) |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Release of pantalar joints for correction congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Correction of congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Reconstruction of toe for macrodactyly with bone resection |
Direct morphology |
False |
Deformity |
Inferred relationship |
Some |
2 |
Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis |
Direct morphology |
False |
Deformity |
Inferred relationship |
Some |
4 |
Posteromedial release of calcaneotalar equinovarus |
Direct morphology |
False |
Deformity |
Inferred relationship |
Some |
3 |
Combined posteromedial and posterolateral release of clubfoot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Lateral release for congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Correction of congenital vertical talus |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Reduction of gigantism of foot |
Direct morphology |
False |
Deformity |
Inferred relationship |
Some |
3 |
Separation of tarsal coalition |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Triple arthrodesis for correction of congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Dilwyn Evans procedure for correction of clubfoot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Metatarsal osteotomy for correction of congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Correction of minor congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Correction of congenital crossed toes |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Reduction of macrodactyly of toe |
Direct morphology |
False |
Deformity |
Inferred relationship |
Some |
2 |
McCauley operation |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Turco operation |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Soft tissue release for correction of congenital deformity of hindfoot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Soft tissue release for correction of congenital deformity of midfoot (procedure) |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Soft tissue release for correction of congenital deformity of forefoot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Correction of congenital hallux varus |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Primary correction of clubfoot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Medial release of joints of foot for correction of congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Osteotomy of body of os calcis for correction congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
2 |
Wedge tarsectomy for correction congenital deformity of foot |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
3 |
Heyman operation |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |
Brockman operation |
Direct morphology |
True |
Deformity |
Inferred relationship |
Some |
1 |