Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Poikiloderma with neutropenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary cryohydrocytosis with normal stomatin |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary cryohydrocytosis with normal stomatin |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Pancytopenia with developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Pancytopenia with developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Pancytopenia with developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Pancytopenia with developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Neonatal autoimmune haemolytic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Neonatal autoimmune haemolytic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Primary CD59 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Primary CD59 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Congenital neutropenia, myelofibrosis, nephromegaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of right hip |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of left foot |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of left elbow |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of left hip |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of right elbow |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of joint of right foot |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Bilateral stiffness of joints of elbows |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Congenital nephrotic syndrome due to diffuse mesangial sclerosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Steroid sensitive nephrotic syndrome of childhood |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Pierson syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Nephrotic syndrome with minimal change glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome co-occurrent and due to membranoproliferative glomerulonephritis type III |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic-nephritic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Steroid resistant nephrotic syndrome of childhood |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Familial mesangial sclerosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome, dense deposit disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Childhood nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, focal and segmental glomerular lesions |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
LAMB2-related infantile-onset nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome secondary to glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Galloway Mowat syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Nephrotic syndrome secondary to systemic disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome co-occurrent with HIV infection |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome due to type 1 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Multi-drug resistant nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, diffuse mesangial proliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome with proliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome with membranous glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital nephrotic syndrome due to congenital infection |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome with membranoproliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Steroid-sensitive nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, minor glomerular abnormality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Steroid-dependent nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, diffuse membranous glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Congenital nephrotic syndrome with focal glomerulosclerosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Drash syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nephrotic syndrome, diffuse endocapillary proliferative glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome due to type 2 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, diffuse mesangiocapillary glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome in amyloidosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome, diffuse crescentic glomerulonephritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Finnish congenital nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome associated with another disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Genetic steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome due to diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome in malaria |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Sporadic idiopathic steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Nephrotic syndrome in polyarteritis nodosa |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hereditary cryohydrocytosis with reduced stomatin |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hereditary cryohydrocytosis with reduced stomatin |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Leigh syndrome with nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Pancytopenia due to IKZF1 mutations |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Pancytopenia due to IKZF1 mutations |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Pancytopenia due to IKZF1 mutations |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Pancytopenia due to IKZF1 mutations |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Bleeding diathesis due to thromboxane synthesis deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary thrombocytopenia with normal platelets |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary isolated aplastic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hereditary isolated aplastic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Hereditary isolated aplastic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Hereditary isolated aplastic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Osteopetrosis - intermediate type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Autosomal dominant osteopetrosis type 2 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Osteopetrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Osteopenia, intellectual disability, sparse hair syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Infantile osteopetrosis with neuroaxonal dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Juvenile idiopathic generalised osteoporosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Spondylo-ocular syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Dysplasia with decreased bone density |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Transient infantile osteopetrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
X-linked osteoporosis with fractures |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Infantile malignant osteopetrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
X-linked calvarial hyperostosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Calvarial doughnut lesion with bone fragility syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Benign autosomal dominant osteopetrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Osteopetrosis with renal tubular acidosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |