Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hemoglobin Paksé disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Hemoglobin Paksé disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hemoglobin Seal Rock disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Hemoglobin Seal Rock disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus cardiomyopathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus cleft palate syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism of Toriello type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
6 |
Microcephalus co-occurrent with cervical spine fusion anomaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus microcornea syndrome of Seemanova type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephalus with albinism and digital anomaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
7 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
6 |
Microcephalus with cardiac defect and lung malsegmentation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Non autoimmune hemolytic anemia caused by drug |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Non autoimmune hemolytic anemia caused by drug |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Iron deficiency anemia due to celiac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Iron deficiency anemia due to celiac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Iron deficiency anemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Iron deficiency anemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Iron deficiency anemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Iron deficiency anemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Iron deficiency anemia following gastrectomy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Iron deficiency anemia following gastrectomy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus, brain defect, spasticity, hypernatremia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
6 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly with deafness and intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephalus, lymphedema, chorioretinopathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephaly with simplified gyral pattern |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Microcephaly-capillary malformation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephaly, thin corpus callosum, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Felty's syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Neu-Laxova syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Oro-facial digital syndrome type 14 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
7 |
Oculopalatocerebral syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Prominent glabella with microcephaly and hypogenitalism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
6 |
Pseudoprogeria syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Severe neonatal onset encephalopathy with microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Severe X-linked intellectual disability Gustavson type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Child head circumference < 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference = 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference 0.5th - 1.9th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Child head circumference equal to 2nd centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Microcephalic primordial dwarfism of Toriello type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Microcephalic primordial dwarfism Alazami type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic primordial dwarfism Dauber type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Cleft palate, large ears, small head syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Cutaneous mastocytosis, short stature, hearing loss syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
8 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic osteodysplastic dysplasia Saul Wilson type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
7 |
Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Microcephalic primordial dwarfism Montreal type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Fecal lipase below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Feces pH more acidic than reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Anemia caused by antineoplastic agent |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Anemia caused by antineoplastic agent |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Pancytopenia caused by antithyroid drug |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Pancytopenia caused by antithyroid drug |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
5 |
Pancytopenia caused by antithyroid drug |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Pancytopenia caused by antithyroid drug |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
4 |
Anemia due to enzymopathy |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Anemia due to enzymopathy |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Homozygous hereditary elliptocytosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Homozygous hereditary elliptocytosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |
Hereditary iron deficiency anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
1 |
Vitamin B12 deficiency anemia due to chronic atrophic gastritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
3 |
Vitamin B12 deficiency anemia due to chronic atrophic gastritis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier |
2 |