{"Name":"Cardiac valvular dysplasia, X-linked","DiseaseID__c":"GARD:0001096","id":1096,"encodedName":"cardiac-valvular-dysplasia-x-linked","IsDeleted":false,"Disease_Name_Full__c":"Cardiac valvular dysplasia, X-linked","Xref_IDs__c":"718128009; C0262436; C173469; C535576; DOID:0111765; MEDGEN:78083; MONDO:0010753; ORPHA:555877","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:555877","Disease_Description__c":"A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement), presenting as valve thickening and dysfunction with variable stenosis, prolapse, and/or regurgitation, and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.","GARD_Name__c":"Cardiac valvular dysplasia, X-linked","GARD_Synonym__c":"congenital valvular dysplasia; cvd1; cvdpx; filamin a-related x-linked myxomatous valvular dysplasia; flna-related valvular dystrophy; flna-related x-linked cardiac valvular dysplasia; flna-related x-linked myxomatous valvular dysplasia; myxomatous valvular dystrophy, x-linked; valvular heart disease, congenital; xmvd","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"X-linked cardiac valvular dysplasia is a condition characterized by the abnormal development (dysplasia) of heart (cardiac) valves. The normal heart has four valves, two on the left side of the heart and two on the right side, that allow blood to move through the heart and prevent blood from flowing backward. In X-linked cardiac valvular dysplasia, one or more of the four heart valves is thickened and cannot open and close completely when the heart beats and pumps blood. These malformed valves can cause abnormal blood flow and an irregular heart sound during a heartbeat (heart murmur). The signs and symptoms of X-linked cardiac valvular dysplasia vary greatly among affected individuals. Some people have no health problems, while in others blood can leak through the thickened and partially closed valves. This valve leakage (regurgitation) typically affects the mitral valve, which connects the two left chambers of the heart, or the aortic valve, which regulates blood flow from the heart into the large artery called the aorta. Valve regurgitation forces the heart to pump harder to move blood through the heart. As a result, affected individuals may develop chest pains, shortness of breath, or lightheadedness. In X-linked cardiac valvular dysplasia, the mitral or aortic valve can also be prolapsed, which means that the valve is weak or floppy. Valve prolapse further prevents the thickened valve from closing properly and can lead to valve regurgitation. Other rare complications of X-linked cardiac valvular dysplasia include inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death. X-linked cardiac valvular dysplasia can be diagnosed anytime from birth (in some cases prenatally) to late adulthood but is typically diagnosed in early to mid-adulthood because valve malformation is often a slow process. This condition affects males more often and more severely than females.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:555877","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010753","ORPHANET_ID__c":"ORPHA:555877","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia valvular mixomatosa ligada al cromosoma x asociada al gen flna","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia valvular mixomatosa ligada al cromosoma x asociada al gen flna","Spanish_GARD_Synonym__c":"displasia valvular mixomatosa ligada al cromosoma x asociada a la filamina a; distrofia valvular asociada al gen flna","Category_Linearization__c":"ORPHA:93890","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":"X-linked cardiac valvular dysplasia is a condition characterized by the abnormal development (dysplasia) of heart (cardiac) valves. The normal heart has four valves, two on the left side of the heart and two on the right side, that allow blood to move through the heart and prevent blood from flowing backward. In X-linked cardiac valvular dysplasia, one or more of the four heart valves is thickened and cannot open and close completely when the heart beats and pumps blood. These malformed valves can cause abnormal blood flow and an irregular heart sound during a heartbeat (heart murmur). The signs and symptoms of X-linked cardiac valvular dysplasia vary greatly among affected individuals. Some people have no health problems, while in others blood can leak through the thickened and partially closed valves. This valve leakage (regurgitation) typically affects the mitral valve, which connects the two left chambers of the heart, or the aortic valve, which regulates blood flow from the heart into the large artery called the aorta. Valve regurgitation forces the heart to pump harder to move blood through the heart. As a result, affected individuals may develop chest pains, shortness of breath, or lightheadedness. In X-linked cardiac valvular dysplasia, the mitral or aortic valve can also be prolapsed, which means that the valve is weak or floppy. Valve prolapse further prevents the thickened valve from closing properly and can lead to valve regurgitation. Other rare complications of X-linked cardiac valvular dysplasia include inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death. X-linked cardiac valvular dysplasia can be diagnosed anytime from birth (in some cases prenatally) to late adulthood but is typically diagnosed in early to mid-adulthood because valve malformation is often a slow process. This condition affects males more often and more severely than females.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"congenital valvular dysplasia; cvd1; cvdpx; filamin a-related x-linked myxomatous valvular dysplasia; flna-related valvular dystrophy; flna-related x-linked cardiac valvular dysplasia; flna-related x-linked myxomatous valvular dysplasia; myxomatous valvular dystrophy, x-linked; valvular heart disease, congenital; xmvd","Name":"Cardiac valvular dysplasia, X-linked","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Conquering CHD","Website__c":"https://www.conqueringchd.org/"},{"Account_Name__c":"Hypermobility Syndromes Association","Website__c":"https://www.hypermobility.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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:555877"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001096","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1213","Source__c":"Gene Review","Xref__c":"NBK1213"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535576","Source__c":"MONDO:0010753","Xref__c":"C535576"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0262436","Source__c":"C0262436","Xref__c":"C0262436"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718128009","Source__c":"MONDO:0010753","Xref__c":"718128009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78083","Source__c":"C0262436","Xref__c":"MEDGEN:78083"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111765","Source__c":"MONDO:0010753","Xref__c":"DOID:0111765"},{"URL__c":"https://www.orpha.net/en/disease/detail/555877","Source__c":"C0262436; MONDO:0010753; ORPHA:555877","Xref__c":"ORPHA:555877"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C173469","Source__c":"C0262436","Xref__c":"C173469"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010753","Source__c":"GARD:0001096","Xref__c":"MONDO:0010753"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186709006","Source__c":"C0262436","Xref__c":"1186709006"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia","Source__c":"GARD:0001096","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLNA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flna","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A condition in which the skin can be stretched beyond normal, and then returns to its initial position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000974","HPO_Synonym__c":"Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin","HPO_Name__c":"Hyperextensible skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increase in size of the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030718","HPO_Synonym__c":"Dilated right atrium; Enlarged heart right atrium; Right atrial dilatation","HPO_Name__c":"Right atrial enlargement","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001488","HPO_Synonym__c":"Drooping of both upper eyelids","HPO_Name__c":"Bilateral ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010444","HPO_Synonym__c":"Pulmonary incompetence; Pulmonary valve insufficiency; Pulmonary valve regurgitation; Puolmonary valve insufficiency","HPO_Name__c":"Pulmonic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000189","HPO_Synonym__c":"Decreased palatal width; Decreased transverse dimension of palate; Narrow palate; Narrow roof of mouth","HPO_Name__c":"Narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000179","HPO_Synonym__c":"Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Thick vermilion border of lower lip","HPO_Name__c":"Thick lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032388","HPO_Name__c":"Periventricular nodular heterotopia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Very frequent (80-99%)","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:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031624","HPO_Name__c":"Moderate myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Uncommon (<1-4%)","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:555877","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005180","HPO_Synonym__c":"Tricuspid insufficiency; Tricuspid valve regurgitation","HPO_Name__c":"Tricuspid regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:555877","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001647","HPO_Synonym__c":"Aortic valve has two leaflets rather than three","HPO_Name__c":"Bicuspid aortic valve","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"]},"synonyms":["congenital valvular dysplasia"," cvd1"," cvdpx"," filamin a-related x-linked myxomatous valvular dysplasia"," flna-related valvular dystrophy"," flna-related x-linked cardiac valvular dysplasia"," flna-related x-linked myxomatous valvular dysplasia"," myxomatous valvular dystrophy, x-linked"," valvular heart disease, congenital"," xmvd"]}