Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Normal hormone secretion |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Decreased hormone secretion |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Abnormal hormone secretion |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Increased hormone secretion |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Abnormal hormone secretion |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Normal hormone secretion |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Decreased hormone secretion |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Increased hormone secretion |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
4 |
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Iatrogenic ovarian failure |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ovarian failure following radiotherapy |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Primary ovarian failure |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Resistant ovary syndrome |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Pure gonadal dysgenesis 46,XX |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ovarian failure |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Postablative ovarian failure |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ovarian dysgenesis |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Menopause ovarian failure |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Post-chemotherapy ovarian failure |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Premature ovarian failure (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Autoimmune primary ovarian failure |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Secondary ovarian failure |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Iatrogenic premature ovarian failure (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Acquired premature ovarian failure |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Idiopathic premature ovarian failure (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Premature ovarian failure due to autoimmune oophoritis (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Ovarian failure due to procedure (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Symptomatic postprocedural ovarian failure |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ectopic hyperparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hyperparathyroidism due to intestinal malabsorption |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hyperparathyroidism due to vitamin D deficiency |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypergonadism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Primary water-clear cell hyperplasia |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
hyperparathyroïdie causée par un traitement au lithium |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Transient neonatal hyperparathyroidism (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ovarian hyperfunction (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypersecretion of ovarian progesterone |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Secondary hyperparathyroidism of nonrenal origin |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Familial hyperparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hyperparathyroidism due to end stage renal disease on dialysis (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ovarian hypersecretion |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ovarian masculinisation syndrome |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hyperparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Tertiary hyperparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Parathyromatosis |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Neonatal hyperparathyroidism (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hyperparathyroidism due to renal insufficiency |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypersecretion of ovarian androgens |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Ectopic parathyroid hormone-related protein secretion |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Secondary hyperparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Parathyroid hyperplasia |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Primary hyperparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hyperparathyroidism-jaw tumor syndrome (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypomagnesemia with secondary hypocalcemia (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
3 |
Transitory neonatal hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Secondary hypoparathyroidism (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypoparathyroidism after external beam radiotherapy (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypoparathyroidism due to hemochromatosis (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Idiopathic parathyroidism |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
5 |
Transient neonatal hypoparathyroidism due to maternal hyperparathyroidism (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Transient hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Neonatal hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Idiopathic hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypoparathyroidism due to granulomatous disease (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
X-linked hypoparathyroidism (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypoparathyroidism - autosomal dominant |
Interprets |
False |
Hormone secretion |
Inferred relationship |
Some |
1 |
A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Kenny syndrome |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Hypoparathyroidism after iodine thyroid ablation (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypoparathyroidism due to impaired PTH secretion |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Isolated late onset hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Isolated persistent neonatal hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Hypoparathyroidism following procedure (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Postablative hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Post-surgical hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Autoimmune hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Parathyroid hypocalcemic tetany |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
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. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
3 |
Testicular hyperfunction |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
4 |
Gastrin secretion, function |
Is a |
True |
Hormone secretion |
Inferred relationship |
Some |
|
A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Pseudopseudohypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Pseudohypoparathyroidism type I A |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
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. |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Pseudohypoparathyroidism type 1C (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Normocalcemic primary hyperparathyroidism (disorder) |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |
Post-thyroidectomy hypoparathyroidism |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
2 |
Placental secretion of chorionic gonadotropin |
Is a |
True |
Hormone secretion |
Inferred relationship |
Some |
|
Ovarioleukodystrophy |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
3 |
Hypoparathyroidism due to Wilson disease |
Interprets |
True |
Hormone secretion |
Inferred relationship |
Some |
1 |