| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Decreased placental secretion of chorionic gonadotropin |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Urine 17 ketogenic steroid below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| High density lipoprotein below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Low density lipoprotein cholesterol below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Cholesterol/high density lipoprotein ratio below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephaly, congenital cataract, psoriasiform dermatitis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Hereditary thrombocytopenia with early-onset myelofibrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Euglobulin clot lysis time below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Serum total protein below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Christianson syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Congenital generalized hypercontractile muscle stiffness syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Oral-facial-digital syndrome with short stature and brachymesophalangia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Blood magnesium below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Blood glucose below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Blood urea below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Respiratory flow rate below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Decreased forced expiratory volume |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| FEV1/FVC < 70 percent of predicted |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Forced expiratory volume in one second/Forced vital capacity greater than 70 percent of predicted (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Forced vital capacity below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Lung function mildly obstructed |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Lung function significantly obstructed |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Chest expansion reduced |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased functional residual capacity |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased total lung capacity |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased lung compliance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Low ventilation-perfusion ratio |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Decreased diffusion capacity of lung |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Blood viscosity below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Basal metabolic rate below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Slow metabolic rate (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Urine calcium below reference level (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Urine urate below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Serum chloride below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Serum copper below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Arterial oxygen concentration below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Arterial partial pressure of carbon dioxide below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Decreased maximal voluntary ventilation |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Autosomal dominant thrombocytopenia with platelet secretion defect |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Serum calcium below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Short stature, brachydactyly, obesity, global developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Severe autosomal recessive macrothrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Sanjad Sakati syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Combined immunodeficiency, enteropathy spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) |
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 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) |
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 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Congenital autosomal recessive small-platelet thrombocytopenia (disorder) |
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 (disorder) |
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 |
| Hypoalphaglobulinaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Stiffness of joint of bilateral foot regions (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| L-ferritin deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hyperostosis cranialis interna (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Severe myopia, generalized joint laxity, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Decreased estrogen level |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| 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 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) |
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 |
| Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) |
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 (disorder) |
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 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Hemoglobin E/beta thalassemia disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) |
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 (disorder) |
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 |