| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked acrogigantism |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Leydig cell agenesis (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Obesity due to leptin receptor gene deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Shwachman syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Renal hepatic pancreatic dysplasia (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Partial agenesis of pancreas (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Leprechaunism syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| syndrome d'insensibilité partielle aux androgènes |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Thymic, renal, anal, lung dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| pseudohypoparathyroïdie type 1A (trouble) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital pancreatic enterokinase deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pancreatic triacylglycerol lipase deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary pancreatitis |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pancreatic colipase deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| diabète sucré et diabète insipide avec atrophie optique et surdité |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| myoclonie photo-induite, diabète sucré, surdité, néphropathie et dysfonctionnement cérébral |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Diabetes-deafness syndrome maternally transmitted |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Insulin resistance - type A |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Syndrome of apparent mineralocorticoid excess |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoparathyroidism type 1C (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Cystic fibrosis of pancreas |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary breast and ovarian cancer syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| acanthosis nigricans héréditaire bénin avec insulinorésistance |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Perilipin 1 related familial partial lipodystrophy (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperandrogenism due to cortisone reductase deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial isolated hyperparathyroidism (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial nonmedullary thyroid carcinoma |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Diabetes mellitus co-occurrent and due to cystic fibrosis (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary site-specific ovarian cancer syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial infantile gigantism (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypoinsulinemic hypoglycemia and body hemihypertrophy |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Corticosteroid-binding globulin deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Woodhouse Sakati syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Dyshormonogenic goitre |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| syndrome polyglandulaire auto-immun de type 1 (trouble) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Progressive cerebellar ataxia with hypogonadism |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperproinsulinaemia |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Ovarioleukodystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity onset diabetes of the young, type 2 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity onset diabetes of the young, type 1 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 3 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 5 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 8 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 10 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity-onset diabetes of the young, type 11 |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked panhypopituitarism (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked hypoparathyroidism (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Kallman syndrome with heart disease (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary growth hormone deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Sanjad Sakati syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| CIDEC-related familial partial lipodystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| LIPE-related familial partial lipodystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| AKT2-related familial partial lipodystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 4H leukodystrophy (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Glucagon receptor-related hyperglucagonemia (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital isolated adrenocorticotropic hormone deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Inherited disorder of thyroid metabolism |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Glucocorticoid deficiency with achalasia |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Severe steroid 21-hydroxylase deficiency |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Transitory amino acid metabolic disorder |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Iodotyrosine deiodination defect |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant variant form of albumin |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Neonatal iminoglycinuria |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity onset diabetes mellitus in young |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial adrenocortical hypoplasia |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Cholesterol monooxygenase (side-chain cleaving) deficiency |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Corticosterone 18-monooxygenase deficiency (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Testosterone 17-beta-dehydrogenase deficiency (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Transient neonatal hyperglycinaemia |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Steroid 21-monooxygenase deficiency, simple virilising type |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Moderate steroid 21-hydroxylase deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary nephrogenic diabetes insipidus |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Adrenoleukodystrophy |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 3 |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant excess of transthyretin |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
FHIR