{"Name":"Williams syndrome","DiseaseID__c":"GARD:0007891","id":7891,"encodedName":"williams-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Williams syndrome","Xref_IDs__c":"63247009; C0175702; C85232; D018980; DOID:1928; MEDGEN:59799; MONDO:0008678; NBK1249; OMIM:194050; ORPHA:904; Q93.82","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":9,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","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:0008678","Disease_Description__c":"A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.","GARD_Name__c":"Williams syndrome","GARD_Synonym__c":"chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb; deletion 7q11.23; fanconi schlesinger syndrome; monosomy 7q11.23; wbs; william syndrome; williams beuren syndrome; williams-beuren syndrome; williams-beuren syndrome (wbs)","Curated_Disease_Description_Source__c":"GARD:0007891","Curated_Disease_Description__c":"Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. Older children and adults typically have a longer face with a wide mouth and full lips.  A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Narrowing of other vessels, including the artery from the heart to the lungs (pulmonary stenosis) and the arteries that supply blood to the heart (coronary artery stenosis) can also occur. Other problems with the heart and blood vessels, including high blood pressure (hypertension) and stiff blood vessels, have also been reported in people with Williams syndrome. Individuals with Williams syndrome have an increased risk of complications with the use of anesthesia. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin.  Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature.  Medical problems involving vision or hearing, including sensitivity to sound (hyperacusis), are frequently associated with Williams syndrome. In addition, problems with the digestive tract and the urinary system are also possible. Obesity or diabetes can develop in adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:904","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008678","ORPHANET_ID__c":"ORPHA:904","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de williams","Spanish_Description_Source__c":"ORPHA:904","Spanish_Description__c":"Es un trastorno multisistémico del neurodesarrollo, poco frecuente y de origen genético, caracterizado por una apariencia facial característica, anomalías cardíacas (siendo la estenosis aórtica supravalvular la más común), anomalías cognitivas, del desarrollo y del tejido conectivo (como laxitud articular). La dismorfia facial se caracteriza por frente amplia, estrechamiento bitemporal, plenitud periorbitaria, patrón estrellado del iris y/o en encaje, nariz corta y con la punta elevada, filtrum largo, boca ancha, labios gruesos y leve micrognatia.","Spanish_Disease_Name__c":"síndrome de williams","Spanish_GARD_Synonym__c":"deleción 7q11.23; monosomía 7q11.23; síndrome de williams-beuren","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":"Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. Older children and adults typically have a longer face with a wide mouth and full lips.  A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Narrowing of other vessels, including the artery from the heart to the lungs (pulmonary stenosis) and the arteries that supply blood to the heart (coronary artery stenosis) can also occur. Other problems with the heart and blood vessels, including high blood pressure (hypertension) and stiff blood vessels, have also been reported in people with Williams syndrome. Individuals with Williams syndrome have an increased risk of complications with the use of anesthesia. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin.  Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature.  Medical problems involving vision or hearing, including sensitivity to sound (hyperacusis), are frequently associated with Williams syndrome. In addition, problems with the digestive tract and the urinary system are also possible. Obesity or diabetes can develop in adulthood.","Curated_Disease_Description_Source__c":"GARD:0007891","GARD_Synonym__c":"chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb; deletion 7q11.23; fanconi schlesinger syndrome; monosomy 7q11.23; wbs; william syndrome; williams beuren syndrome; williams-beuren syndrome; williams-beuren syndrome (wbs)","Name":"Williams syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"Asociación Síndrome Williams de España","Website__c":"https://www.sindromewilliams.org/"},{"Account_Name__c":"Asociación Nacional Síndrome de Williams A.C","Website__c":"https://www.sindromedewilliamsmexico.org/"},{"Account_Name__c":"Williams Syndrome Association","Website__c":"https://williams-syndrome.org/"},{"Account_Name__c":"Williams Syndrome Foundation","Website__c":"https://williams-syndrome.org.uk/"},{"Account_Name__c":"Canadian Association for Williams Syndrome","Website__c":"http://www.williamssyndrome.ca/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Psychiatry","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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:904"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:904"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0175702"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007891","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1249","Source__c":"Gene Review","Xref__c":"NBK1249"},{"URL__c":"https://www.orpha.net/en/disease/detail/904","Source__c":"C0175702; MONDO:0008678; ORPHA:904","Xref__c":"ORPHA:904"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0175702","Source__c":"C0175702","Xref__c":"C0175702"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=59799","Source__c":"C0175702","Xref__c":"MEDGEN:59799"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85232","Source__c":"C0175702; MONDO:0008678","Xref__c":"C85232"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018980","Source__c":"C0175702; MONDO:0008678","Xref__c":"D018980"},{"URL__c":"https://www.omim.org/entry/194050","Source__c":"C0175702; MONDO:0008678; ORPHA:904","Xref__c":"OMIM:194050"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63247009","Source__c":"C0175702; MONDO:0008678","Xref__c":"63247009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1928","Source__c":"MONDO:0008678","Xref__c":"DOID:1928"},{"URL__c":"https://medlineplus.gov/genetics/condition/williams-syndrome","Source__c":"GARD:0007891","Xref__c":"https://medlineplus.gov/genetics/condition/williams-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008678","Source__c":"GARD:0007891","Xref__c":"MONDO:0008678"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q93.82","Source__c":"MONDO:0008678","Xref__c":"Q93.82"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ELN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/eln","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MLXIPL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastric mucous membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004295","HPO_Synonym__c":"Abnormality of the gastric mucosa; Abnormality of the mucous membrane layer of stomach","HPO_Name__c":"Abnormal gastric mucosa morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","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; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the foot with the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003028","HPO_Synonym__c":"Abnormality of the ankles","HPO_Name__c":"Abnormality of the ankle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002141","HPO_Synonym__c":"Abnormality of balance; Abnormality of equilibrium; Imbalanced walk","HPO_Name__c":"Gait imbalance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002623","HPO_Synonym__c":"Dextroposition of aorta; Overriding aortic valve","HPO_Name__c":"Overriding aorta","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000025","HPO_Name__c":"Functional abnormality of male internal genitalia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004398","HPO_Synonym__c":"Sore in the lining of gastrointestinal tract","HPO_Name__c":"Peptic ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007720","HPO_Synonym__c":"Cornea plana","HPO_Name__c":"Flat cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","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:904","HPO_Frequency__c":"Occasional (5-29%)","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:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000014","HPO_Name__c":"Abnormality of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001181","HPO_Synonym__c":"Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern","HPO_Name__c":"Adducted thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","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:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000075","HPO_Synonym__c":"Duplex kidney; Duplicated kidney; Extra kidney","HPO_Name__c":"Renal duplication","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002974","HPO_Synonym__c":"Fused forearm bones","HPO_Name__c":"Radioulnar synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low set, steeply sloping shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200021","HPO_Synonym__c":"Down-sloping shoulders; Rounded shoulders; Rounded, sloping shoulders; Sloping shoulders","HPO_Name__c":"Down-sloping shoulders","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","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:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of tear production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000632","HPO_Synonym__c":"Abnormality of tear production","HPO_Name__c":"Lacrimation abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of hypersociability that presents as mostly inappropriate friendliness towards others.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100025","HPO_Synonym__c":"Excessive eagerness to interact with others; Excessive friendliness; Excessive gregariousness; Hypersociability; Overfamiliarity","HPO_Name__c":"Overfriendliness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","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:904","HPO_Frequency__c":"Occasional (5-29%)","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:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","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:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000275","HPO_Synonym__c":"Decreased breadth of face; Decreased horizontal dimension of face; Decreased transverse dimension of face; Decreased width of face; Horizontal deficiency of face; Horizontal hypoplasia of face; Horizontal insufficiency of face; Narrow face; Narrow facies; Thin facies; Transverse deficiency of face; Transverse hypoplasia of face; Transverse insufficiency of face","HPO_Name__c":"Narrow face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008736","HPO_Synonym__c":"Underdeveloped penis","HPO_Name__c":"Hypoplasia of penis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002308","HPO_Synonym__c":"Arnold-Chiari malformation; Cerebellar tonsillar ectopia","HPO_Name__c":"Chiari malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loose and sagging skin often associated with loss of skin elasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001582","HPO_Synonym__c":"Loose redundant skin; Redundant skin folds; Sagging, redundant skin","HPO_Name__c":"Redundant skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A marked tapering of the lower face to the chin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000307","HPO_Synonym__c":"Pointed chin; Pointed mention region; Pointy chin; Small pointed chin; Witch's chin","HPO_Name__c":"Pointed chin","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","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:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","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:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of a lipid in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003119","HPO_Name__c":"Abnormal circulating lipid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed 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:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000389","HPO_Synonym__c":"Chronic infections of the middle ear; Otitis media, chronic","HPO_Name__c":"Chronic otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000485","HPO_Synonym__c":"Anterior megalophthalmos; Enlarged cornea; Increased corneal diameter; Macrocornea","HPO_Name__c":"Megalocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004381","HPO_Name__c":"Supravalvular aortic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the rectal mucous membrane through the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002035","HPO_Synonym__c":"Rectum protrudes through anus","HPO_Name__c":"Rectal prolapse","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the urethra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008661","HPO_Synonym__c":"Narrowing of the urethra","HPO_Name__c":"Urethral stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","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:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple diverticula of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002253","HPO_Synonym__c":"Colonic diverticulosis","HPO_Name__c":"Colonic diverticula","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","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:904","HPO_Frequency__c":"Occasional (5-29%)","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:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diverticulum (sac or pouch) in the wall of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000015","HPO_Synonym__c":"Bladder diverticula","HPO_Name__c":"Bladder diverticulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000125","HPO_Synonym__c":"Sacral kidney","HPO_Name__c":"Pelvic kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004428","HPO_Synonym__c":"Elf-like facial appearance; Elf-like facial features","HPO_Name__c":"Elfin facies","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","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"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001310","HPO_Synonym__c":"Lack of coordination of movement","HPO_Name__c":"Dysmetria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001800","HPO_Synonym__c":"Underdeveloped toenails","HPO_Name__c":"Hypoplastic toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001822","HPO_Synonym__c":"Bunion; Lateral deviation of great toe; Lateral deviation of halluces","HPO_Name__c":"Hallux valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of hypertension related to stenosis of the renal artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100817","HPO_Synonym__c":"Hypertension due to renal artery hyperplasia","HPO_Name__c":"Renovascular hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","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:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005344","HPO_Synonym__c":"Abnormality of the carotid arteries","HPO_Name__c":"Abnormal carotid artery morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality related to a defect of vertebral separation during development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003422","HPO_Synonym__c":"Abnormal spinal segmentation","HPO_Name__c":"Vertebral segmentation defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005562","HPO_Synonym__c":"Multiple kidney cysts","HPO_Name__c":"Multiple renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of hypermetropia with over +5.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008499","HPO_Synonym__c":"High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness","HPO_Name__c":"High hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012639","HPO_Synonym__c":"Abnormal shape of nervous system; Abnormality of nervous system morphology","HPO_Name__c":"Abnormal nervous system morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A markedly blue coloration of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000635","HPO_Synonym__c":"Blue eyes","HPO_Name__c":"Blue irides","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","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:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","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:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Edema affecting the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100539","HPO_Synonym__c":"Periorbital cellulitis","HPO_Name__c":"Periorbital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","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:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001052","HPO_Synonym__c":"Nevus simplex; port-wine stain","HPO_Name__c":"Nevus flammeus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally heightened sensitivity to loud sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002183","HPO_Synonym__c":"Fear of loud sounds","HPO_Name__c":"Phonophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the intra-atrial or intraventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001671","HPO_Synonym__c":"Abnormality of the cardiac septa; Heart septal defect; Septal defects","HPO_Name__c":"Abnormal cardiac septum morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010526","HPO_Name__c":"Dysgraphia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100785","HPO_Synonym__c":"Difficulty staying or falling asleep; Inability to sleep","HPO_Name__c":"Insomnia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Narrowing or constriction of the inner surface (lumen) of an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100545","HPO_Synonym__c":"Narrowing of an artery","HPO_Name__c":"Arterial stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008053","HPO_Synonym__c":"Absent/small iris; Absent/underdeveloped iris","HPO_Name__c":"Aplasia/Hypoplasia of the iris","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Over-sensitivity to certain frequency ranges of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010780","HPO_Name__c":"Hyperacusis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality that involves the tubules and interstitial tissue of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001969","HPO_Synonym__c":"Tubulointerstitial abnormality","HPO_Name__c":"Abnormal tubulointerstitial morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000154","HPO_Synonym__c":"Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth","HPO_Name__c":"Wide mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","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:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stenosis of a peripheral branch of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004969","HPO_Synonym__c":"Narrowing of peripheral lung artery; peripheral pulmonary stenosis; Peripheral pulmonic stenosis","HPO_Name__c":"Peripheral pulmonary artery stenosis","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology of the tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006482","HPO_Synonym__c":"Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth","HPO_Name__c":"Abnormal dental morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002637","HPO_Synonym__c":"Brain ischemia; Cerebrovascular ischemia; Disruption of blood oxygen supply to brain","HPO_Name__c":"Cerebral ischemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007495","HPO_Synonym__c":"Precociously senile appearance; Prematurely aged appearance","HPO_Name__c":"Prematurely aged appearance","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Behavior that consists of repetitive acts, characterized by the feeling that one \\\"has to\\\" perform them, while being aware that these acts are not in line with one's overall goal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000722","HPO_Synonym__c":"Obsessive compulsive behavior; Obsessive compulsive disorder; Obsessive-compulsive behavior; Obsessive-compulsive disorder; OCD","HPO_Name__c":"Compulsive behaviors","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002999","HPO_Synonym__c":"Dislocated kneecap; Dislocated patellae; Dislocation of patella","HPO_Name__c":"Patellar dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001618","HPO_Synonym__c":"Inability to produce voice sounds; Voice change","HPO_Name__c":"Dysphonia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000627","HPO_Synonym__c":"Embryotoxon","HPO_Name__c":"Posterior embryotoxon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010669","HPO_Synonym__c":"Cheekbone underdevelopment; Decreased size of cheekbone; Decreased size of zygomatic bone; Hypoplasia of cheekbone; Underdevelopment of cheekbone; Underdevelopment of zygomatic bone","HPO_Name__c":"Hypoplasia of the zygomatic bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000089","HPO_Synonym__c":"Hypoplastic kidney; Hypoplastic kidneys; Small kidneys; Underdeveloped kidneys","HPO_Name__c":"Renal hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","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:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001642","HPO_Synonym__c":"Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis","HPO_Name__c":"Pulmonic stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000960","HPO_Synonym__c":"Pilonidal dimple; Spinal dimple","HPO_Name__c":"Sacral dimple","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001361","HPO_Name__c":"Nystagmus-induced head nodding","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007372","HPO_Name__c":"Atrophy/Degeneration involving the corticospinal tracts","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","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:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004305","HPO_Synonym__c":"Involuntary movements; Involuntary muscle contractions","HPO_Name__c":"Involuntary movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The abnormal fusion of neighboring bones across a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100240","HPO_Synonym__c":"Bony ankylosis; Fusion of joints","HPO_Name__c":"Synostosis of joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the aortic arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005113","HPO_Name__c":"Aortic arch aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased height of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000348","HPO_Synonym__c":"High forehead","HPO_Name__c":"High forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010662","HPO_Synonym__c":"Abnormality of the diencephalon","HPO_Name__c":"Abnormal diencephalon morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of actions or reactions of a person exhibited during social interactions with other individuals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012433","HPO_Synonym__c":"Abnormal social behavior; Abnormal social interactions","HPO_Name__c":"Abnormal social behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visible space between the dental arches in occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010807","HPO_Synonym__c":"Absence of overlap of upper and lower teeth; Open bite; Open bite between upper and lower teeth","HPO_Name__c":"Open bite","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010880","HPO_Name__c":"Increased nuchal translucency","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004306","HPO_Synonym__c":"Abnormality of the endocardium; Abnormality of the endomycoardium","HPO_Name__c":"Abnormal endocardium morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:904","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of twists and turns of the retinal arterioles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001136","HPO_Synonym__c":"Tortuous retinal arterioles","HPO_Name__c":"Retinal arteriolar tortuosity","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly","Nephrology","Craniofacial Anomalies"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Neurology","Ophthalmology","Nephrology","Psychiatry","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb"," deletion 7q11.23"," fanconi schlesinger syndrome"," monosomy 7q11.23"," wbs"," william syndrome"," williams beuren syndrome"," williams-beuren syndrome"," williams-beuren syndrome (wbs)"],"spanishId":13102,"spanishName":"sindrome-de-williams"}