Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Ocular hypertension due to intraocular neoplasm of left eye |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Ocular hypertension due to intraocular neoplasm of right eye (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Ocular hypertension due to intraocular neoplasm of bilateral eyes (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Ocular hypertension due to intraocular neoplasm of bilateral eyes (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Proteinuria present in pregnancy and still present in the postpartum period. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
6 |
A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Melorheostosis of right shoulder region |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Melorheostosis of left shoulder region (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Melorheostosis of shoulder region (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hypercalciuria |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Familial hypomagnesemia-hypercalciuria |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Bartter syndrome antenatal type 1 (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Bartter syndrome antenatal type 2 (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Bartter syndrome type 3 (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Bartter syndrome type 4 |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Bartter syndrome type 4a (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia, characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
5 |
Bartter syndrome (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Familial idiopathic hypercalciuria (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Hyperuricemia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Lesch-Nyhan syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hyperuricemia without signs of inflammatory arthritis and tophaceous disease |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Hyperimmunoglobulin E syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant combined immunodeficiency due to ERBIN deficiency |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Autosomal recessive combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Netherton syndrome |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Familial juvenile hyperuricemic nephropathy (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
4 |
Oxygen saturation above reference range |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Oxygen saturation in arterial blood above reference range (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Miscarriage with uremia (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Episodic eosinophilia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hypereosinophilia level indicating malignancy (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Hypereosinophilia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased 4-hydroxyphenylacetic acid level in urine (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased 4-hydroxyphenylpyruvic acid level in urine (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Muscle eosinophilia |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Increased amino acid level in urine due to decreased renal function |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased lactic acid level in urine (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased eosinophil count of ascitic fluid |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Increased eosinophil count of gastrointestinal tract (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Increased 3-hydroxydicarboxylic acid level in urine |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased argininosuccinate lyase level in urine (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased alpha-aminoadipic acid level in urine |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased neutral amino acid level in urine |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased 2-Aminobutyric acid level in urine (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased aspartic acid level in urine |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Increased complex organic acid level in urine |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Aminoaciduria |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Imidazole aminoaciduria |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Deficiency of aminoacylase 1 (disorder) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Inherited aminoaciduria |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
2 |
Recurrent fever (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |
Sclerosis of epiphysis of first metatarsal bone with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of third toe with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of middle finger with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of second toe with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of index finger with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of little finger with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of fifth toe with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of ring finger with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of fourth toe with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of finger with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of hand with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of second toe with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of third toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of great toe with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of middle finger with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of index finger with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of little finger with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of phalanx of ring finger increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of fifth toe with increased radiopacity |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Sclerosis of epiphysis of middle phalanx of fourth toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
3 |
Transient increase in amino acid level in urine |
Has interpretation |
True |
Above reference range (qualifier value) |
Inferred relationship |
Some |
1 |