Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Sulfite oxidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Cystinosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Alcaptonuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Lysinuric protein intolerance |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Glutathione synthase deficiency with 5-oxoprolinuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
hypernatriæmi |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Niemann-Pick disease, type B |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Fructose metabolism disorder (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Secondary hemosiderosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of fatty acid metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Essential benign fructosuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
4-Hydroxyphenylpyruvate dioxygenase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Ascorbic acid toxicity |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Multiple vitamin deficiency disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Amyloid of familial Mediterranean fever |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Persistent hyperphenylalaninemia AND tyrosinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Chronic hyperkalemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metachromatic leukodystrophy, congenital type |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Sulfite oxidase deficiency syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Argininosuccinate lyase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Classical galactosemia, heterozygous type |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-III-A |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
5,10-Methylenetetrahydrofolate reductase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Methylmalonic acidemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyponatremia with excess extracellular fluid volume |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inborn error of amino acid metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypermethioninemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
metabolisk acidose forårsaget af indtagelse af medikamenter OG/ELLER kemiske stoffer |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypokalemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inborn error of lipoprotein metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Body fluid retention (finding) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Chromium deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Drug-induced porphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Neuro-ophthalmological procedure |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
3 |
Mucopolysaccharidosis, MPS-VII |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Smith-Lemli-Opitz syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Persistent hyperphenylalaninemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Reverse intrinsic-plus test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Adenosylcobalamin and methylcobalamin synthesis defect |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of histidine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metachromatic leukodystrophy, juvenile type |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Muscular ossification |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Porphyruria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
glucoaminophosphaturi-syndrom |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
reduceret væskevolumen ved ekstrarenalt tab |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of amino acid metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Gopalan's syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Orbicularis oculi reflex test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Sepiapterin reductase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Glycoprolinuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypouricemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of mineral metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acute hyponatremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Compensated metabolic acidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Aminoacidemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Pyruvate dehydrogenase complex deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of zinc metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metabolic acidosis caused by paraldehyde (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inherited disorder of folate metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
volumendepletion, gastrointestinal tab |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Manganese deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Secondary porphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Orotic aciduria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metachromatic leukodystrophy, late infantile type |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Humoural hypercalcaemia of malignancy |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypervalinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin B deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Glutathionemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Bilirubinuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of lipoprotein AND/OR lipid metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
An inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait. |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Uric acid level above reference range (finding) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Deficiency of acetyl-coenzyme A carboxylase (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of chromium metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Compensated alkalosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Biotin deficiency disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Succinate-semialdehyde dehydrogenase deficiency (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypophosphatemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Familial lipoprotein deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Lysinuric protein intolerance, type 1 |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Chronic hyponatremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Iliac compression test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Leukodystrophy |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Erythropoietic protoporphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metabolic acidosis, IAG, accumulation of organic acids |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of tryptophan metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acquired monosaccharide malabsorption |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Volume excess, disturbed Starling forces |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Intermittent branched-chain ketonuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Homocystinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Fumarylacetoacetase deficiency, chronic type |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Osmolality disturbance |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin K deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypercalcemia due to granulomatous disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypocalcemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Prolinuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inborn error of pyruvate metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metabolic acidosis, IAG, reduced excretion of inorganic acids |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Phosphoenolpyruvate carboxykinase (GTP) deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|