| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Severe steroid 21-hydroxylase deficiency |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Transitory amino acid metabolic disorder |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Iodotyrosine deiodination defect |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant variant form of albumin |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Neonatal iminoglycinuria |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Maturity onset diabetes mellitus in young |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial adrenocortical hypoplasia |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Cholesterol monooxygenase (side-chain cleaving) deficiency |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Corticosterone 18-monooxygenase deficiency |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 17 alpha-Hydroxyprogesterone aldolase deficiency |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Testosterone 17-beta-dehydrogenase deficiency |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Transient neonatal hyperglycinemia |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Steroid 21-monooxygenase deficiency, simple virilizing type |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 3 beta-Hydroxysteroid dehydrogenase deficiency |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Moderate steroid 21-hydroxylase deficiency |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| diabète insipide néphrogénique héréditaire |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Adrenoleukodystrophy |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant excess of transthyretin |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Benign neonatal hyperaminoaciduria |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary adrenal unresponsiveness to corticotropin |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary vitamin D dependency syndrome |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Transient neonatal hypertyrosinemia |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Neonatal hyperhistidinemia |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoaldosteronism, type 1, dominant form |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudohypoaldosteronism, type 1, recessive form |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Inherited disorder of thyroid metabolism |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Glucocorticoid deficiency with achalasia |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 2b |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital adrenal hypoplasia, X-linked (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Simpson-Golabi-Behmel syndrome (disorder) |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 21-hydroxylase deficiency |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| WNT4 Mullerian aplasia and ovarian dysfunction |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| 2-hydroxyglutaric aciduria |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Beckwith-Wiedemann syndrome |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 2 |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Sotos' syndrome |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 1 (disorder) |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial isolated pituitary adenoma |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperparathyroidism-jaw tumor syndrome (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypogonadism with prune belly syndrome |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital adrenal hyperplasia |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Homozygous methylenetetrahydrofolate reductase mutation |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Heterozygous methylenetetrahydrofolate reductase mutation (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypomagnesemia with secondary hypocalcemia (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Pseudoprimary hyperaldosteronism (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Choroideremia co-occurrent with hypopituitarism |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (recessive forms of diazoxide-resistant hyperinsulinism). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare diffuse form of congenital hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic hyperammonemia and recurrent episodes of hypoglycemia induced by fasting and protein rich meals. Epilepsy and cognitive deficit, which are unrelated to hypoglycemia but possibly related to the chronic hyperammonemia, may also occur. This disorder is usually responsive to diazoxide treatment. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| dysplasie micronodulaire pigmentée des surrénales |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability with precocious puberty and obesity syndrome |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder) |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hypogonadism with anosmia |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]