Rare diseases that primarily involve the endocrine & hormonal system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 208 conditions · last built 2026-08-30.
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A22
- Acquired Pituitary Hormone Deficiency
- ACTH-Dependent Cushing Syndrome
- ACTH-Producing Pituitary Gland Adenoma
- ACTH-Producing Pituitary Gland Carcinoma
- ACTH-Producing Pituitary Gland Neoplasm
- Adenohypophysitis
- Adult Hypophosphatasia
- Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia
- Aldosterone-Producing Adenoma With Seizures And Neurological Abnormalities
- ALPL-Related Autosomal Dominant Hypophosphatasia
- ALPL-Related Autosomal Recessive Hypophosphatasia
- Amelogenesis Imperfecta, Hypocalcification Type
- Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome
- Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
- Autosomal Dominant Hyperinsulinism Due To SUR1 Deficiency
- Autosomal Dominant Hypocalcemia
- Autosomal Dominant Hypocalcemia 1
- Autosomal Dominant Hypocalcemia 2
- Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
- Autosomal Recessive Hyperinsulinism Due To SUR1 Deficiency
- Autosomal Recessive Hypophosphatemic Bone Disease
- Autosomal Recessive Infantile Hypercalcemia
B3
C16
- Central Precocious Puberty
- Central Precocious Puberty 1
- Central Precocious Puberty In Male
- Childhood Hypophosphatasia
- Childhood Ovarian Small Cell Carcinoma, Hypercalcemic Type
- Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome
- Combined Pituitary Hormone Deficiencies, Genetic Form
- Congenital Central Hypothyroidism
- Congenital Hypothyroidism
- Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
- Congenital Hypothyroidism Due To Transplacental Passage Of Maternal TSH-Binding Inhibitory Antibodies
- Congenital Isolated Hyperinsulinism
- Congenital Nongoitrous Hypothyroidism 3
- Congenital Nongoitrous Hypothyroidism 6
- Cushing Syndrome
- Cushing Syndrome Due To Cortisol-Producing Adrenocortical Adenoma
D9
- Decreased Circulating Aldosterone Concentration
- Deficiency In Anterior Pituitary Function - Variable Immunodeficiency Syndrome
- Diazoxide-Resistant Diffuse Hyperinsulinism
- Diazoxide-Resistant Focal Hyperinsulinism
- Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency
- Diazoxide-Resistant Focal Hyperinsulinism Due To SUR1 Deficiency
- Diazoxide-Resistant Hyperinsulinism
- Diazoxide-Sensitive Diffuse Hyperinsulinism
- Duplication Of The Pituitary Gland
E5
F19
- Familial Gestational Hyperthyroidism
- Familial Hyperaldosteronism
- Familial Hyperaldosteronism Type II
- Familial Hyperaldosteronism Type III
- Familial Hyperinsulinism
- Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome
- Familial Hyperreninemic Hypoaldosteronism Type 2
- Familial Hyperthyroidism Due To Mutations In TSH Receptor
- Familial Hypoaldosteronism
- Familial Hypocalciuric Hypercalcemia
- Familial Hypocalciuric Hypercalcemia 1
- Familial Hypocalciuric Hypercalcemia 2
- Familial Hypocalciuric Hypercalcemia 3
- Familial Idiopathic Hypercalciuria
- Familial Isolated Pituitary Adenoma
- Familial Primary Hypomagnesemia With Hypocalcuria
- Functioning Gonadotropic Adenoma
- Functioning Pituitary Gland Adenoma
- Functioning Pituitary Gland Neoplasm
G7
H30
- Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
- Humoral Hypercalcemia Of Malignancy
- Hyperaldosteronism, Familial, Type IV
- Hypercalcemia, Infantile, 1
- Hypercalcemia, Infantile, 2
- Hypercalcemic Sarcoidosis
- Hypercalcemic Type Ovarian Small Cell Carcinoma
- Hypercalciuria, Absorptive, 1
- Hyperinsulinemic Hypoglycemia
- Hyperinsulinemic Hypoglycemia, Familial, 1
- Hyperinsulinemic Hypoglycemia, Familial, 2
- Hyperinsulinemic Hypoglycemia, Familial, 4
- Hyperinsulinemic Hypoglycemia, Familial, 8
- Hyperinsulinism Due To Glucokinase Deficiency
- Hyperinsulinism Due To HNF1A Deficiency
- Hyperinsulinism Due To HNF4A Deficiency
- Hyperinsulinism Due To INSR Deficiency
- Hyperinsulinism Due To UCP2 Deficiency
- Hyperinsulinism-Hyperammonemia Syndrome
- Hypophosphatasia
- Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
- Hypothyroidism Due To Iodide Transport Defect
- Hypothyroidism Due To TSH Receptor Mutations
- Hypothyroidism, Congenital, Nongoitrous
- Hypothyroidism, Congenital, Nongoitrous, 2
- Hypothyroidism, Congenital, Nongoitrous, 5
- Hypothyroidism, Congenital, Nongoitrous, 7
- Hypothyroidism, Congenital, Nongoitrous, 8
- Hypothyroidism, Congenital, Nongoitrous, 9
- Hypouricemia, Hypercalcinuria, And Decreased Bone Density
I6
L3
M6
N10
- Neonatal Diabetes Mellitus With Congenital Hypothyroidism
- Neoplasm Of The Pituitary Gland
- Neoplasm Of The Posterior Pituitary
- Non-Acquired Combined Pituitary Hormone Deficiency
- Non-Acquired Combined Pituitary Hormone Deficiency With Spine Abnormalities
- Non-Acquired Pituitary Hormone Deficiency
- Non-Functioning Pituitary Adenoma
- Non-Functioning Pituitary Gland Neoplasm
- Non-Genetic Central Precocious Puberty In Male
- Null Pituitary Adenoma
O1
P51
- Perinatal Lethal Hypophosphatasia
- Peripheral Hypothyroidism
- Peripheral Precocious Puberty
- Permanent Congenital Hypothyroidism
- Perrault Syndrome
- Perrault Syndrome 2
- Pituitary Adenoma
- Pituitary Adenoma 3, Multiple Types
- Pituitary Adenoma 5, Multiple Types
- Pituitary Adenoma, Growth Hormone-Secreting, 2
- Pituitary Apoplexy
- Pituitary Blastoma
- Pituitary Cancer
- Pituitary Carcinoma
- Pituitary Deficiency
- Pituitary Deficiency Due To Empty Sella Turcica Syndrome
- Pituitary Deficiency Due To Rathke Cleft Cysts
- Pituitary Dependent Hypercortisolism
- Pituitary Dermoid And Epidermoid Cysts
- Pituitary Gland Acidophil Adenoma
- Pituitary Gland Basophil Adenoma
- Pituitary Gland Basophilic Carcinoma
- Pituitary Gland Mixed Eosinophil-Basophil Adenoma
- Pituitary Growth Hormone Cell Adenoma
- Pituitary Hormone Deficiency, Combined Or Isolated, 8
- Pituitary Hormone Deficiency, Combined, 1
- Pituitary Hormone Deficiency, Combined, 2
- Pituitary Hormone Deficiency, Combined, 6
- Pituitary Stalk Interruption Syndrome
- Pituitary Stalk Meningioma
- Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
- Precocious Puberty, Central, 2
- Prenatal Benign Hypophosphatasia
- Primary Central Precocious Puberty In Male
- Prolactin Producing Pituitary Tumor
- Prolactin-Producing Pituitary Gland Adenoma
- Prolactin-Producing Pituitary Gland Carcinoma
- Proximal Symphalangism
- Pseudohyperaldosteronism Type 2
- Pseudohypoaldosteronism
- Pseudohypoaldosteronism Type 1
- Pseudohypoaldosteronism Type 2A
- Pseudohypoaldosteronism Type 2B
- Pseudohypoaldosteronism Type 2C
- Pseudohypoaldosteronism Type 2D
- Pseudohypoaldosteronism Type 2E
- Pseudohypoaldosteronism, Type 2
- Pseudohypoaldosteronism, Type IB1, Autosomal Recessive
- Pseudohypoaldosteronism, Type IB2, Autosomal Recessive
- Pseudohypoaldosteronism, Type IB3, Autosomal Recessive
- Pure Gonadal Dysgenesis 46,XY