| 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 (disorder) |
Has interpretation |
True |
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 |