Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Decreased placental secretion of chorionic gonadotropin |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Urine 17 ketogenic steroid below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
High density lipoprotein below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Low density lipoprotein cholesterol below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Cholesterol/high density lipoprotein ratio below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Hereditary thrombocytopenia with early-onset myelofibrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Euglobulin clot lysis time below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Serum total protein below reference level |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
X-linked intellectual developmental disorder Christianson type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Congenital generalized hypercontractile muscle stiffness syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Oral-facial-digital syndrome with short stature and brachymesophalangia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Blood magnesium below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Blood glucose below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Blood urea below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Respiratory flow rate below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Decreased forced expiratory volume |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Forced expiratory volume in one second/Forced vital capacity less than 70 percent of predicted |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Forced expiratory volume in one second/Forced vital capacity greater than 70 percent of predicted |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Forced vital capacity below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Lung function mildly obstructed |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Lung function significantly obstructed |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Chest expansion reduced |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Decreased functional residual capacity |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Decreased total lung capacity |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Decreased lung compliance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Low ventilation-perfusion ratio |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Decreased diffusion capacity of lung |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Blood viscosity below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Basal metabolic rate below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Slow metabolic rate |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Urine calcium below reference level |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Urine urate below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum chloride below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Serum copper below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Arterial oxygen concentration below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Arterial partial pressure of carbon dioxide below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalic cortical malformations, short stature due to rotatin deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic cortical malformations, short stature due to rotatin deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Decreased maximal voluntary ventilation |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Autosomal dominant thrombocytopenia with platelet secretion defect |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Serum calcium below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Severe autosomal recessive macrothrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Sanjad Sakati syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Combined immunodeficiency, enteropathy spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
8 |
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalic osteodysplastic primordial dwarfism type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic osteodysplastic primordial dwarfism type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Progressive cerebello-cerebral atrophy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Congenital autosomal recessive small-platelet thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Stiffness of joint of bilateral foot regions |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
L-ferritin deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hyperostosis cranialis interna |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Phospholipase A2 activating protein-associated neurodevelopmental disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Severe myopia, generalized joint laxity, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
8 |
Microcephalic primordial dwarfism, insulin resistance syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic primordial dwarfism, insulin resistance syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Ring finger protein 13-related severe early-onset epileptic encephalopathy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
1p35.2 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Complex lethal osteochondrodysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Amniotic fluid volume below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
19p13.3 microduplication syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Hemoglobin E/beta thalassemia disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Placental volume below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
46,XX ovarian dysgenesis, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
nudE neurodevelopment protein 1-related microhydranencephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Cerebellar-facial-dental syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |