| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Autosomal dominant excess of transthyretin |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Benign neonatal hyperaminoaciduria |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary adrenal unresponsiveness to corticotropin |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary vitamin D dependency syndrome |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Transient neonatal hypertyrosinemia |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital adrenal hypoplasia, X-linked |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Neonatal hyperhistidinemia |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoaldosteronism, type 1, dominant form |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoaldosteronism, type 1, recessive form |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Simpson-Golabi-Behmel syndrome (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 21-hydroxylase deficiency (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| WNT4 Mullerian aplasia and ovarian dysfunction |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 2-hydroxyglutaric aciduria |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| syndrome de Beckwith-Wiedemann |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 2 |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Sotos' syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| néoplasie endocrine multiple de type 1 |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial isolated pituitary adenoma |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperparathyroidism-jaw tumor syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypogonadism with prune belly syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| hyperplasie surrénale congénitale |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Homozygous methylenetetrahydrofolate reductase mutation |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Heterozygous methylenetetrahydrofolate reductase mutation (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypomagnesemia with secondary hypocalcemia (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudoprimary hyperaldosteronism (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial aldosterone deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| hyperinsulinisme induit par l'effort |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary glucocorticoid resistance (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Choroideremia co-occurrent with hypopituitarism (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to deficiency of glucokinase (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Deficiency of leukotriene C4 synthase (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism and hyperammonemia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Combined pituitary hormone deficiency genetic form (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial thyroid dyshormonogenesis (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Deafness and hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability Van Esch type (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability Cilliers type (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Syndromic X-linked intellectual disability type 7 (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Primary pigmented nodular adrenocortical disease (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability with precocious puberty and obesity syndrome (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Lymphedema hypoparathyroidism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hydrocephalus with obesity and hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to insulin receptor deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypergonadotropic hypogonadism with cataract syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| dysplasie olfactogénitale |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Bamforth Lazarus syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital cataract with deafness and hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Paraganglioma and gastric stromal sarcoma syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Endocrine-cerebro-osteodysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Retinohepatoendocrinologic syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Growth delay due to insulin-like growth factor type 1 deficiency (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial isolated hypoparathyroidism (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 46,XY partial gonadal dysgenesis (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Nephropathy, deafness, hyperparathyroidism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Laminopathy type Decaudain Vigouroux (disorder) |
est un(e) (attribut) |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypoparathyroidism, deafness, renal disease syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial male-limited precocious puberty (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pyridoxal 5-phosphate dependent epilepsy (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Spastic paraplegia with precocious puberty syndrome (disorder) |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Thyrocerebrorenal syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Stimmler syndrome |
est un(e) (attribut) |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
FHIR