Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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 (disorder) |
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 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
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 |
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) |
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 (disorder) |
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 |
von Willebrand factor below reference range |
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 |
Wasting syndrome due to acquired immunodeficiency syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Idiopathic steroid-resistant nephrotic syndrome (disorder) |
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 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Hematopoietic subsyndrome of acute radiation syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Rhizomelic dysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Robinow syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Langer mesomelic dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Nievergelt's syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Leri-Weill dyschondrosteosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Mesomelic dysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Rhizomelic syndrome Urbach type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Mesomelic dysplasia Kantaputra type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Cleidorhizomelic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Dyschondrosteosis and nephritis syndrome |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Thoracic dysplasia and hydrocephalus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Autosomal recessive Robinow syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Autosomal dominant Robinow syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Leri-Weill dyschondrosteosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
Mesomelic dysplasia of upper limb (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Mesomelic dysplasia of upper limb (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Mesomelic dysplasia of lower limb |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Mesomelic dysplasia of lower limb |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
9 |
SHOX-related short stature |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Mesomelic dysplasia Kantaputra type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Mesomelic dysplasia Savarirayan type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Mesomelic dysplasia Savarirayan type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Diastrophic dysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Autosomal recessive Robinow syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Brachydactyly type A6 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
X-linked spondyloepimetaphyseal dysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
X-linked spondyloepimetaphyseal dysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Axial spondylometaphyseal dysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Multiple epiphyseal dysplasia Lowry type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Omodysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Autosomal dominant omodysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Autosomal recessive omodysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Bone dysplasia lethal Holmgren type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Rhizomelic dysplasia of Patterson Lowry type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Rhizomelic dysplasia of Patterson Lowry type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Smith McCort dysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Regressive spondylometaphyseal dysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Smith McCort dysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Cleidorhizomelic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Multiple epiphyseal dysplasia Lowry type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Autosomal dominant osteopetrosis type 1 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Distal arthrogryposis type 3 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Familial lecithin cholesterol acyltransferase deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Lecithin cholesterol acyltransferase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Fish-eye disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hyponatremia with excess extracellular fluid volume |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Water intoxication syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hyponatremia with normal extracellular fluid volume |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Cerebral hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Chronic hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hyponatremia with decreased serum osmolality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Transurethral resection of prostate (TURP) syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Dilutional hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Acute hyponatremia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Transitory neonatal hyponatraemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Paraneoplastic hyponatremia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |