| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Combined immunodeficiency, enteropathy spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Steel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephalic osteodysplastic primordial dwarfism type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephalic osteodysplastic primordial dwarfism type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Progressive cerebello-cerebral atrophy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Congenital autosomal recessive small-platelet thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Bilateral stiffness of foot joints |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| L-ferritin deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hyperostosis cranialis interna |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| PLAA-associated neurodevelopmental disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Severe myopia, generalised joint laxity, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| QRICH1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| Microcephalic primordial dwarfism, insulin resistance syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephalic primordial dwarfism, insulin resistance syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| RNF13-related severe early-onset epileptic encephalopathy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| 1p35.2 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Complex lethal osteochondrodysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Amniotic fluid volume below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| 9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 19p13.3 microduplication syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Haemoglobin E/beta thalassaemia disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| MIRAGE syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Placental volume below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| 46,XX ovarian dysgenesis, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| NDE1-related microhydranencephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Cerebellar-facial-dental syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Coffin-Lowry syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Fatty acyl-CoA reductase 1 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Fatty acyl-CoA reductase 1 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Warts, hypogammaglobulinaemia, infections, and myelokathexis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| USP18 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| Classical-like Ehlers-Danlos syndrome type 2 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Oculocerebrodental syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Upshaw-Schulman syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Hypoxic nephrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypocomplementaemic urticarial vasculitis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Low von Willebrand factor |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Hypoglobulinaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased renal clearance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Menke Hennekam syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Menke Hennekam syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| AIDS (acquired immunodeficiency syndrome) wasting syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Idiopathic steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Platelet count below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Platelet count below reference range at birth |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased 17-ketosteroids level |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased pulmonary arterial wedge pressure |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Theophylline level low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Granulocyte count below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| MCV - low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Whole blood folate low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypothermia due to anaesthetic |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Severe cytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Transitory cytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Urine specific gravity low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased 17-ketogenic steroids level |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypothermia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| O/E - profoundly anaemic |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypoviscosity |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypothermia - accidental |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Decreased pituitary luteinising hormone level |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Cerebrospinal fluid globulin below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| O/E - hypothermia - less than 32 degrees Celsius |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Marrow megakaryocyte decrease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Cytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Measurement finding below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Alpha-fetoprotein low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased vitamin D |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Random blood sugar low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased carbohydrate |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased vital capacity |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Reticulocytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Serum folate low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased pentose |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |