- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:562)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:562)
- Large cafe-au-lait macules with irregular margins (HP:0005605): Large hypermelanotic macules with jagged borders. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:562)
- Abnormal endocrine physiology (HP:0031072): Any anomaly of the function of the endocrine system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:562)
- Abnormal testis morphology (HP:0000035): An anomaly of the testicle (the male gonad). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Macroorchidism (HP:0000053): The presence of abnormally large testes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Renal tubular dysfunction (HP:0000124): Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Abnormality of the thyroid gland (HP:0000820): An abnormality of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Hyperthyroidism (HP:0000836): An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Growth abnormality (HP:0001507). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Abnormal skull base morphology (HP:0002693): An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Fibrous dysplasia of the bones (HP:0010734): Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Monostotic fibrous dysplasia (HP:0010736): Fibrous dysplasia of the bones were lesions are localized in only one bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Abnormal facial skeleton morphology (HP:0011821): An abnormality of one or more of the set of bones that make up the facial skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Increased serum testosterone level (HP:0030088): An elevated circulating testosterone level in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:562)
- Renal phosphate wasting (HP:0000117): High urine phosphate in the presence of hypophosphatemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Elevated circulating growth hormone concentration (HP:0000845): Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Goiter (HP:0000853): An enlargement of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Increased circulating prolactin concentration (HP:0000870): The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Nasal congestion (HP:0001742): Reduced ability to pass air through the nasal cavity often leading to mouth breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Benign gastrointestinal tract tumors (HP:0006719). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Abnormal sexual behavior (HP:0008768): A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Polyostotic fibrous dysplasia (HP:0010735): Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Hyperplasia of the Leydig cells (HP:0010791): Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Hepatocellular adenoma (HP:0012028): A benign tumor of the liver of presumably epithelial origin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Bone fracture (HP:0020110): A partial or complete breakage of the continuity of a bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:562)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Primary hypercortisolism (HP:0001579): Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Increased circulating cortisol level (HP:0003118): Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Aneurysmal bone cyst (HP:0012063): Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
- Cutaneous myxoma (HP:0030428): A myxoma originating in the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:562)
These phenotypes are associated with the disease McCune-Albright syndrome (ORPHA:562).