{"Name":"Alkaptonuria","DiseaseID__c":"GARD:0005775","id":5775,"encodedName":"alkaptonuria","IsDeleted":false,"Disease_Name_Full__c":"Alkaptonuria","Xref_IDs__c":"360378009; C0002066; C84546; D000474; DOID:9270; MEDGEN:1413; MONDO:0008753; NBK1454; OMIM:203500; ORPHA:56","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008753","Disease_Description__c":"A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).","GARD_Name__c":"Alkaptonuria","GARD_Synonym__c":"aku; alcaptonuria; alkaptonuric ochronosis; deficiency of homogentisate 1,2-dioxygenase; deficiency of homogentisate oxygenase; deficiency of homogentisicase; hereditary ochronosis; hgd-gene related homogentisate 1,2-dioxygenase deficiency; homogentisate 1,2-dioxygenase deficiency; homogentisic acid oxidase deficiency; homogentisic acidura; homogentisicaciduria","Curated_Disease_Description_Source__c":"GARD:0005775","Curated_Disease_Description__c":"Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. Ochronosis, a buildup of dark (blue-black) pigment in certain tissues, is a characteristic feature of alkaptonuria. The first symptom of alkaptonuria is often urine that turns black or very dark when it is exposed to air (oxidation). However, this color change may not occur immediately after urination. Ochronosis occurs in connective tissues throughout the body, such as the joints, tendons, and ligaments. Pigment changes can be easily seen in the whites of the eyes (sclera), the outer ears, and the hands. Dark pigment can also be found in earwax and in body sweat (perspiration). These pigment changes are usually evident after age 30. Ochronosis in the joints causes people with alkaptonuria to develop arthritis, typically in early adulthood. Arthritis usually affects the spine and large joints (such as the hips and knees). Many affected individuals require joint replacements later in life. Over time, the deposits of pigment can harden (calcify). Calcification in joints or ligaments causes them to become rigid and brittle, decreasing their flexibility and making them prone to damage. Calcification of the discs that separate the bones of the spine can cause further back pain. This calcification can also affect the cartilage that makes up the valves of the heart, which allow blood to move through the heart and prevent blood from flowing backward. As a result, the heart valves narrow (stenosis), which can cause the valves to leak (regurgitation). The body removes the excess pigment in urine. However, removing the large pigment deposits found in people with alkaptonuria can put strain on the kidneys, and this can lead to kidney (renal) failure. Similarly, a buildup of these substances in the kidneys or prostate gland can cause calcium stones to develop. If the body cannot effectively process and remove the pigment and related substances, these products substances can continue to build up in the body, worsening ochronosis, arthritis, and other features of alkaptonuria. With appropriate medical management, people with alkaptonuria generally have a normal life expectancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as an Adult","SourceID__c":"ORPHA:56","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008753","ORPHANET_ID__c":"ORPHA:56","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Alcaptonuria","Spanish_Description_Source__c":"ORPHA:56","Spanish_Description__c":"Un trastorno poco frecuente del metabolismo de la fenilalanina y la tirosina caracterizado por el acúmulo de ácido homogentísico (HGA) y su producto oxidado, el ácido benzoquinona acético (BQA), en diversos tejidos (cartílago, tejido conectivo) y fluidos corporales (orina, sudor), provocando el oscurecimiento de la orina cuando se expone al aire así como una coloración gris-azulada de la esclerótica y de la hélix de la oreja (ocronosis), y una enfermedad articular incapacitante que afecta tanto a las articulaciones axiales como a las periféricas (artropatía ocronótica).","Spanish_Disease_Name__c":"alcaptonuria","Spanish_GARD_Synonym__c":"deficiencia de homogentisico oxidasa; ocronosis hereditaria","Category_Linearization__c":"ORPHA:68367","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":"Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. Ochronosis, a buildup of dark (blue-black) pigment in certain tissues, is a characteristic feature of alkaptonuria. The first symptom of alkaptonuria is often urine that turns black or very dark when it is exposed to air (oxidation). However, this color change may not occur immediately after urination. Ochronosis occurs in connective tissues throughout the body, such as the joints, tendons, and ligaments. Pigment changes can be easily seen in the whites of the eyes (sclera), the outer ears, and the hands. Dark pigment can also be found in earwax and in body sweat (perspiration). These pigment changes are usually evident after age 30. Ochronosis in the joints causes people with alkaptonuria to develop arthritis, typically in early adulthood. Arthritis usually affects the spine and large joints (such as the hips and knees). Many affected individuals require joint replacements later in life. Over time, the deposits of pigment can harden (calcify). Calcification in joints or ligaments causes them to become rigid and brittle, decreasing their flexibility and making them prone to damage. Calcification of the discs that separate the bones of the spine can cause further back pain. This calcification can also affect the cartilage that makes up the valves of the heart, which allow blood to move through the heart and prevent blood from flowing backward. As a result, the heart valves narrow (stenosis), which can cause the valves to leak (regurgitation). The body removes the excess pigment in urine. However, removing the large pigment deposits found in people with alkaptonuria can put strain on the kidneys, and this can lead to kidney (renal) failure. Similarly, a buildup of these substances in the kidneys or prostate gland can cause calcium stones to develop. If the body cannot effectively process and remove the pigment and related substances, these products substances can continue to build up in the body, worsening ochronosis, arthritis, and other features of alkaptonuria. With appropriate medical management, people with alkaptonuria generally have a normal life expectancy.","Curated_Disease_Description_Source__c":"GARD:0005775","GARD_Synonym__c":"aku; alcaptonuria; alkaptonuric ochronosis; deficiency of homogentisate 1,2-dioxygenase; deficiency of homogentisate oxygenase; deficiency of homogentisicase; hereditary ochronosis; hgd-gene related homogentisate 1,2-dioxygenase deficiency; homogentisate 1,2-dioxygenase deficiency; homogentisic acid oxidase deficiency; homogentisic acidura; homogentisicaciduria","Name":"Alkaptonuria","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"The Alkaptonuria Society","Website__c":"https://akusociety.org/"},{"Account_Name__c":"The AKU Society of North America","Website__c":"https://akusocietyna.org/"}],"GARD_Disease_Tag__c":[{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:56"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:56"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0002066"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005775","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1454","Source__c":"Gene Review","Xref__c":"NBK1454"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1413","Source__c":"C0002066","Xref__c":"MEDGEN:1413"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0002066","Source__c":"C0002066","Xref__c":"C0002066"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84546","Source__c":"C0002066; MONDO:0008753","Xref__c":"C84546"},{"URL__c":"https://www.orpha.net/en/disease/detail/56","Source__c":"C0002066; MONDO:0008753; ORPHA:56","Xref__c":"ORPHA:56"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9270","Source__c":"MONDO:0008753","Xref__c":"DOID:9270"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000474","Source__c":"C0002066; MONDO:0008753","Xref__c":"D000474"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=360378009","Source__c":"C0002066; MONDO:0008753","Xref__c":"360378009"},{"URL__c":"https://www.omim.org/entry/203500","Source__c":"C0002066; MONDO:0008753; ORPHA:56","Xref__c":"OMIM:203500"},{"URL__c":"https://medlineplus.gov/genetics/condition/alkaptonuria","Source__c":"GARD:0005775","Xref__c":"https://medlineplus.gov/genetics/condition/alkaptonuria"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008753","Source__c":"GARD:0005775","Xref__c":"MONDO:0008753"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HGD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hgd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a stenosis (narrowing) of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001650","HPO_Synonym__c":"Aortic stenosis; Narrowing of aortic valve; Valvular aortic stenosis","HPO_Name__c":"Aortic valve stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001717","HPO_Name__c":"Coronary artery calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Brown pigment spots in the limbus (border between the cornea and the sclera).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000027","HPO_Name__c":"Oil-drop brown pigmentation of the corneal limbus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004942","HPO_Synonym__c":"Aortic dilatation; Bulge in wall of large artery that carries blood away from heart; Enlarged aorta","HPO_Name__c":"Aortic aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030764","HPO_Synonym__c":"Ochronotic arthritis","HPO_Name__c":"Ochronosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of homogentisic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033704","HPO_Name__c":"Elevated urinary homogentisic acid","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004380","HPO_Name__c":"Aortic valve calcification","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007400","HPO_Name__c":"Irregular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000364","HPO_Synonym__c":"Abnormal hearing; Hearing abnormality","HPO_Name__c":"Hearing abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal dark color of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040319","HPO_Name__c":"Dark urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002621","HPO_Synonym__c":"Atherosclerotic cardiovascular disease; Narrowing and hardening of arteries","HPO_Name__c":"Atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Calcium deposits in the prostate gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034882","HPO_Synonym__c":"Prostatic calcul","HPO_Name__c":"Prostatic calculus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025612","HPO_Name__c":"Corneal astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the orifice of the mitral valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001718","HPO_Synonym__c":"Mitral valve stenosis","HPO_Name__c":"Mitral stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition in cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100593","HPO_Name__c":"Calcification of cartilage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; 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Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100773","HPO_Synonym__c":"Cartilage destruction","HPO_Name__c":"Cartilage destruction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Displacement or malalignment of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001373","HPO_Synonym__c":"Joint dislocation; Joint dislocations","HPO_Name__c":"Joint dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007832","HPO_Name__c":"Pigmentation of the sclera","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormal calcium deposition of the intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005645","HPO_Synonym__c":"Multiple intervertebral disk calcifications","HPO_Name__c":"Intervertebral disk calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the prostate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000024","HPO_Synonym__c":"Inflammation of the prostate","HPO_Name__c":"Prostatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Breakage (tear) of a tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100550","HPO_Synonym__c":"Rupture of tendons; 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Anomaly of the nose; Nasal abnormality; Nasal anomaly","HPO_Name__c":"Abnormality of the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012119","HPO_Name__c":"Methemoglobinemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:56","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000025","HPO_Synonym__c":"Dark earwax; Pigmented cerumen","HPO_Name__c":"Dark cerumen","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["aku"," alcaptonuria"," alkaptonuric ochronosis"," deficiency of homogentisate 1,2-dioxygenase"," deficiency of homogentisate oxygenase"," deficiency of homogentisicase"," hereditary ochronosis"," hgd-gene related homogentisate 1,2-dioxygenase deficiency"," homogentisate 1,2-dioxygenase deficiency"," homogentisic acid oxidase deficiency"," homogentisic acidura"," homogentisicaciduria"]}