Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Phosphoenolpyruvate carboxykinase (GTP) deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperkalemia, transcellular shifts |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Rowley-Rosenberg syndrome |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypervitaminosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Classical maple syrup urine disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin E deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hereditary xanthinuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Multiple sulphatase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of carbohydrate transport |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Starvation ketoacidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Infantile hypophosphatasia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Ketoacidosis due to acute alcohol intoxication |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Arylsulfatase deficiency without metachromatic leukodystrophy (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acute hyperkalemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperlipidemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Essential benign pentosuria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Ketoacidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Pellagra |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Inherited disorder of bilirubin metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypertyrosinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Pseudohypophosphatasia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Localized amyloidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperammonemia, type III |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Cholesterol ester storage disease |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Tyrosinosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Pentose disorder |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acid phosphatase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Allen's test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Metabolic acidosis, NAG, failure of bicarbonate regeneration |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Nutritional disorder due to calcium-phosphorus imbalance |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Dihydropteridine reductase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Sphingomyelin/cholesterol lipidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperlysinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Familial disease with storage of sterols (other than cholesterol) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting. |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metabolic acidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypokalemia, gastrointestinal losses |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperprolinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Metabolic acidosis caused by ethylene glycol (disorder) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Compensated acidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Proteinosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Glutamate formiminotransferase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-III-B |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Familial hypobetalipoproteinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Phosphate-loading hypocalcemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Iron overload |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of magnesium metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Urocanate hydratase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypocapnia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Proline dehydrogenase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypercupremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Acute hypokalaemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypocholesterolemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Classical galactosemia, homozygous Negro-type |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Overhydration |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Homocarnosinase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Weber's test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Congenital hyperammonemia, type I |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Congenital defect of folate absorption |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Visual evoked potential study |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
3 |
Uric acid level below reference range (finding) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Avian curly toe paralysis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Glycine dehydrogenase (decarboxylating) deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Disorder of manganese metabolism |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Launois-Bensaude's lipomatosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Porphobilinogen synthase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin B12 deficiency (non anemic) |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Ethanolaminosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypervitaminosis A |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperglycinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Sarcosine dehydrogenase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Electrolyte imbalance following molar AND/OR ectopic pregnancy |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Niacinamide toxicity |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Drop arm test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
1 |
Imidazole aminoaciduria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Mucopolysaccharidosis, MPS-I-H |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
APRT deficiency, Japanese type |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Structure with calcium deposition. |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Persistent hyperlysinemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Trendelenburg test |
Procedure site |
False |
Body system structure |
Inferred relationship |
Some |
2 |
Cystathioninemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Niemann-Pick disease, type C |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypercalcemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hypermagnesaemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Vitamin D intoxication |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Erythropoietic porphyria |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Wet beriberi |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Cytochrome-c oxidase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Essential hypernatremia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Aminomethyltransferase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Niemann-Pick disease, type C, subacute form |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Massive calcification in paraplegic |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Crigler-Najjar syndrome, type II |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Sphingolipid activator protein 1 deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Fetal OR intrauterine acidosis noted before labor in liveborn infant |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Histidine ammonia-lyase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Hyperphenylalaninemia |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Tetrahydrobiopterin synthesis defect |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Cystathionine gamma-lyase deficiency |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|
Age-related amyloidosis |
Finding site |
False |
Body system structure |
Inferred relationship |
Some |
|