{"Name":"McCune-Albright syndrome","DiseaseID__c":"GARD:0006995","id":6995,"encodedName":"mccune-albright-syndrome","IsDeleted":false,"Disease_Name_Full__c":"McCune-Albright syndrome","Xref_IDs__c":"726029005; C0242292; C48627; DOID:1858; MEDGEN:69164; MONDO:0018919; OMIM:174800; ORPHA:562","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018919","Disease_Description__c":"A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome).","GARD_Name__c":"McCune-Albright syndrome","GARD_Synonym__c":"albright syndrome; albright's disease; albright's syndrome; gonadotropin-independent female-limited sexual precocity; mas; mccune albright syndrome; mccune-albright syndrome, somatic, mosaic","Curated_Disease_Description_Source__c":"GARD:0006995","Curated_Disease_Description__c":"McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome. In addition to bone abnormalities, affected individuals usually have light brown patches of skin called café-au-lait spots, which may be present from birth. The irregular borders of the café-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, café-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the café-au-lait spots in McCune-Albright syndrome may appear on only one side of the body. Girls with McCune-Albright syndrome may reach puberty early. These girls often have menstrual bleeding by age 2. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty. Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as 'coarse.' Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the skull. Rarely, affected individuals develop Cushing syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2. Problems in other organs and systems, such as noncancerous (benign) gastrointestinal growths called polyps and other abnormalities, can also occur in McCune-Albright syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:562","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018919","ORPHANET_ID__c":"ORPHA:562","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mccune-albright","Spanish_Description_Source__c":"ORPHA:562","Spanish_Description__c":"El síndrome de McCune-Albright (SMA) se define clásicamente por la triada clínica de displasia fibrosa de los huesos (DF), manchas cutáneas café con leche y pubertad precoz (PP).","Spanish_Disease_Name__c":"síndrome de mccune-albright","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome. In addition to bone abnormalities, affected individuals usually have light brown patches of skin called café-au-lait spots, which may be present from birth. The irregular borders of the café-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, café-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the café-au-lait spots in McCune-Albright syndrome may appear on only one side of the body. Girls with McCune-Albright syndrome may reach puberty early. These girls often have menstrual bleeding by age 2. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty. Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as 'coarse.' Excess growth hormone secretion may also lead to increased expansion of the fibrous dysplasia in the bones, most visibly in the skull. Rarely, affected individuals develop Cushing syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. In people with McCune-Albright syndrome, Cushing syndrome occurs only before age 2. Problems in other organs and systems, such as noncancerous (benign) gastrointestinal growths called polyps and other abnormalities, can also occur in McCune-Albright syndrome.","Curated_Disease_Description_Source__c":"GARD:0006995","GARD_Synonym__c":"albright syndrome; albright's disease; albright's syndrome; gonadotropin-independent female-limited sexual precocity; mas; mccune albright syndrome; mccune-albright syndrome, somatic, mosaic","Name":"McCune-Albright syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"FD/MAS Alliance","Website__c":"https://fdmasalliance.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:562"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0016065"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0242292"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006995","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK274564","Source__c":"Gene Review","Xref__c":"NBK274564"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0242292","Source__c":"C0242292","Xref__c":"C0242292"},{"URL__c":"https://www.omim.org/entry/174800","Source__c":"C0242292; MONDO:0018919; ORPHA:562","Xref__c":"OMIM:174800"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726029005","Source__c":"C0242292; MONDO:0018919","Xref__c":"726029005"},{"URL__c":"https://www.orpha.net/en/disease/detail/562","Source__c":"C0242292; MONDO:0018919; ORPHA:562","Xref__c":"ORPHA:562"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1858","Source__c":"MONDO:0018919","Xref__c":"DOID:1858"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C48627","Source__c":"C0242292; MONDO:0018919","Xref__c":"C48627"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=69164","Source__c":"C0242292","Xref__c":"MEDGEN:69164"},{"URL__c":"https://medlineplus.gov/genetics/condition/mccune-albright-syndrome","Source__c":"GARD:0006995","Xref__c":"https://medlineplus.gov/genetics/condition/mccune-albright-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018919","Source__c":"GARD:0006995","Xref__c":"MONDO:0018919"},{"URL__c":"https://www.nidcr.nih.gov/health-info/fibrous-dysplasia-mccune-albright-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnas","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"High urine phosphate in the presence of hypophosphatemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000117","HPO_Synonym__c":"Decreased renal tubular phosphate reabsorption; Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate; Tubular phosphate reabsorption low","HPO_Name__c":"Renal phosphate wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001507","HPO_Synonym__c":"Abnormal growth; Growth abnormality; Growth issue","HPO_Name__c":"Growth abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010791","HPO_Name__c":"Hyperplasia of the Leydig cells","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to pass air through the nasal cavity often leading to mouth breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001742","HPO_Synonym__c":"Blockage of nose; Nasal blockage; Nasal obstruction; Obstruction of nose; Stuffy nose","HPO_Name__c":"Nasal congestion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001396","HPO_Synonym__c":"Slowed or blocked flow of bile from liver","HPO_Name__c":"Cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000845","HPO_Synonym__c":"Elevated circulating somatotropin concentration; Growth hormone excess; Somatotropin excess","HPO_Name__c":"Elevated circulating growth hormone concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000144","HPO_Synonym__c":"Abnormal fertility; Decreased fertility","HPO_Name__c":"Decreased fertility","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012063","HPO_Name__c":"Aneurysmal bone cyst","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000820","HPO_Synonym__c":"Abnormality of the thyroid gland; Thyroid abnormality","HPO_Name__c":"Abnormality of the thyroid gland","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000124","HPO_Synonym__c":"Abnormal function of filtrating structures in kidney; Renal tubular defect","HPO_Name__c":"Renal tubular dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006719","HPO_Synonym__c":"Benign GI tract tumors; Non-cancerous GI tumors","HPO_Name__c":"Benign gastrointestinal tract tumors","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002823","HPO_Synonym__c":"Abnormality of femur morphology; Abnormality of the femora; Abnormality of the thighbone","HPO_Name__c":"Abnormal femur morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial or complete breakage of the continuity of a bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020110","HPO_Name__c":"Bone fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002693","HPO_Synonym__c":"Abnormality of cranial base; Abnormality of the skull base","HPO_Name__c":"Abnormal skull base morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly of the function of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031072","HPO_Name__c":"Abnormal endocrine physiology","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003118","HPO_Synonym__c":"Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production","HPO_Name__c":"Increased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign tumor of the liver of presumably epithelial origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012028","HPO_Synonym__c":"Hepatic adenoma; Liver cell adenoma","HPO_Name__c":"Hepatocellular adenoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An enlargement of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000853","HPO_Synonym__c":"Enlarged thyroid gland in neck; Thyroid goiter","HPO_Name__c":"Goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally high variation in the amount of time between periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000858","HPO_Synonym__c":"Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity","HPO_Name__c":"Irregular menstruation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008768","HPO_Synonym__c":"Inappropriate sexual behavior","HPO_Name__c":"Abnormal sexual behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010735","HPO_Name__c":"Polyostotic fibrous dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010734","HPO_Name__c":"Fibrous dysplasia of the bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000035","HPO_Synonym__c":"Abnormality of the testis; Anomaly of the testes","HPO_Name__c":"Abnormal testis morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated circulating testosterone level in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030088","HPO_Synonym__c":"High serum testosterone level; High serum testosterone levels; Increased serum testosterone levels","HPO_Name__c":"Increased serum testosterone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001579","HPO_Name__c":"Primary hypercortisolism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Large hypermelanotic macules with jagged borders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005605","HPO_Name__c":"Large cafe-au-lait macules with irregular margins","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more cysts of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000138","HPO_Synonym__c":"Cystic abnormalities of the ovaries; Cystic ovaries; Ovarian cyst; Ovarian cystic abnormality","HPO_Name__c":"Ovarian cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000836","HPO_Synonym__c":"Overactive thyroid","HPO_Name__c":"Hyperthyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the set of bones that make up the facial skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011821","HPO_Synonym__c":"Abnormality of facial skeleton; Anomaly of facial skeleton","HPO_Name__c":"Abnormal facial skeleton morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A myxoma originating in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030428","HPO_Name__c":"Cutaneous myxoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fibrous dysplasia of the bones were lesions are localized in only one bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010736","HPO_Name__c":"Monostotic fibrous dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:562","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000870","HPO_Synonym__c":"Hyperprolactinaemia; Hyperprolactinemia; Prolactin excess","HPO_Name__c":"Increased circulating prolactin concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Dermatology","Orthopedics","Obstetrics / Gynecology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Dermatology","Congenital Abnormality","Urogenital Disorders"],"Account":["Dermatology"]},"synonyms":["albright syndrome"," albright's disease"," albright's syndrome"," gonadotropin-independent female-limited sexual precocity"," mas"," mccune albright syndrome"," mccune-albright syndrome, somatic, mosaic"],"spanishId":11861,"spanishName":"sindrome-de-mccune-albright"}