Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Corticosterone 18-monooxygenase deficiency |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Salt-losing congenital adrenal hyperplasia (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Testosterone 17-beta-dehydrogenase deficiency |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cholesterol monooxygenase (side-chain cleaving) deficiency |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
3 beta-Hydroxysteroid dehydrogenase deficiency |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital adrenal hyperplasia |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Deficiency of steroid 17-alpha-monooxygenase |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Deficiency of steroid 11-beta-monooxygenase (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid 21-monooxygenase deficiency, salt wasting type (disorder) |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Late onset congenital adrenal hyperplasia (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital primary adrenocortical hypofunction (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperaldosteronism |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperaldosteronism type 1 |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperaldosteronism type 2 |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperaldosteronism type 3 (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary hyperaldosteronism due to aldosterone-secreting malignant neoplasm of adrenal gland |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Accessory adrenal cortex |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid 21-monooxygenase deficiency, simple virilizing type |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
17 alpha-Hydroxyprogesterone aldolase deficiency |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cholesterol monooxygenase (side-chain cleaving) deficiency |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Steroid 21-monooxygenase deficiency, salt wasting type (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adolescent X-linked adrenoleukodystrophy |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pseudohermaphrodite, female with adrenocortical disorder |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Virilisation-adrenogenital syndrome |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juxtaglomerular hyperplasia co-occurrent with secondary hyperaldosteronism (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyperaldosteronism co-occurrent with hyperplasia of the adrenal cortex (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood cerebral X-linked adrenoleukodystrophy (disorder) |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Salt-losing congenital adrenal hyperplasia with virilism |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tuberculous Addison's disease |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Familial hypoaldosteronism |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primäre pigmentierte noduläre adrenokortikale Krankheit |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adrenocortical hypofunction following procedure (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Severe steroid 21-hydroxylase deficiency |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial adrenocortical hypoplasia |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Moderate steroid 21-hydroxylase deficiency |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adrenoleukodystrophy |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hereditary adrenal unresponsiveness to corticotropin |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pseudohypoaldosteronism, type 1, dominant form |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pseudohypoaldosteronism, type 1, recessive form |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neonatal adrenoleucodystrophy |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acyl-coenzyme A oxidase deficiency (disorder) |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hypoaldosteronism |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primäre pigmentierte noduläre adrenokortikale Krankheit |
Finding site |
False |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Adolescent X-linked adrenoleukodystrophy |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood cerebral X-linked adrenoleukodystrophy (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glucocorticoid deficiency with achalasia |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Adrenal carcinoma |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Adrenomyodystrophy (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial glucocorticoid deficiency (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute adrenal insufficiency (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acquired benign adrenal androgenic overactivity |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acquired adrenogenital syndrome |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aldosterone-producing adenoma |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Precocious puberty with adrenocortical hyperfunction (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency non-classic form |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nodular hyperplasia of adrenal cortex (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nodule of adrenal cortex |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Structure of left adrenal cortex |
Is a |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Structure of right adrenal cortex |
Is a |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adrenocorticotropic hormone resistance syndrome |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Adrenal cortical hypofunction due to interruption of corticosteroid therapy (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperreninemic hypoaldosteronism type 2 (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Atrophy of adrenal cortex (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperreninemic hypoaldosteronism type 1A |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial hyperreninemic hypoaldosteronism type 1B (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Female adrenal virilization |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
MIRAGE syndrome |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary adrenal cortical carcinoma (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adrenoleukodystrophy |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Adrenomyeloneuropathy (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Isolated primary pigmented nodular adrenocortical disease (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Carney complex-associated-primary pigmented nodular adrenocortical disease (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare familial hyperaldosteronism characterized by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalemia. Developmental delay, learning disabilities, behavioral abnormalities, and attention deficit disorder are observed in some patients. |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Cushing syndrome due to cortisol-producing adrenocortical adenoma (disorder) |
Finding site |
True |
Adrenal cortex structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |