Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Concato's disease (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
Progressive flexion contracture of joint (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
Lung disease, immunodeficiency, chromosome breakage syndrome (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Progressive weakness of muscle |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Progressive weakness of distal muscle (finding) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Progressive weakness of proximal muscle |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Progressive visual field defect (finding) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Progressive decrease in visual acuity |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Progressive truncal ataxia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
Segmental spinal muscular atrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Progressive atrophy of distal muscle |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Proximal spinal muscular atrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
A rare disorder of fatty acid biosynthesis characterised by spastic paraparesis, bilateral congenital/juvenile cataracts, gross motor developmental delay, speech delay and truncal hypotonia. Seizures in infancy can also be observed. Patients have elevated levels of ether lipids including plasmalogen. Majority of the affected individuals have normal brain imaging and normal growth. No microcephaly or dysmorphic features were reported. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
A rare multiple epiphyseal dysplasia characterized by mild short stature, joint pain and early-onset osteoarthropathy, frequently requiring joint replacement. Radiographs from affected individuals may manifest features typical of Desbuquois dysplasia, including irregularly shaped capital femoral epiphyses, a short femoral neck (resembles the Swedish key appearance of the proximal femur) and advanced carpal ossification in the hands. However, some other features typical of Desbuquois dysplasia like joint dislocations, scoliosis, coronal clefts, or other hand anomalies including accessory ossification centers and/or delta phalanx are not observed. Anterior wedging of vertebral bodies, small epiphyses at the knees with metaphyseal flare may be present. Patients have normal metacarpal and phalangeal lengths, no distinctive facies nor neurologic complications. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Adult-onset Steinert myotonic dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Childhood-onset Steinert myotonic dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Juvenile-onset Steinert myotonic dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
Late-onset Steinert myotonic dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |