{"Name":"Mucopolysaccharidosis, MPS-II","DiseaseID__c":"GARD:0006675","id":6675,"encodedName":"mucopolysaccharidosis-mps-ii","IsDeleted":false,"Disease_Name_Full__c":"Mucopolysaccharidosis, MPS-II","Xref_IDs__c":"423022410; 70737009; C0026705; C61260; D016532; DOID:12799; E76.1; MEDGEN:7734; MONDO:0010674; OMIM:309900; ORPHA:580","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010674","Disease_Description__c":"A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.","GARD_Name__c":"Mucopolysaccharidosis, MPS-II","GARD_Synonym__c":"attenuated mps (subtype; formerly known as mild mps ii); deficiency of iduronate-2-sulfatase; deficiency of iduronate-2-sulphatase; hunter disease; hunter syndrome; hunter's syndrome; i2s deficiency; ids deficiency; iduronate 2-sulfatase deficiency; iduronate sulfatase deficiency; mps 2; mps 2 - mucopolysaccharidosis 2; mps ii; mps ii - hunter syndrome; mps with skin involvement; mps2; mpsii; mpsii - mucopolysaccharidosis type ii; mucopolysaccharidosis ii; mucopolysaccharidosis ii, x-linked recessive; mucopolysaccharidosis type 2; mucopolysaccharidosis type ii; mucopolysaccharidosis with skin involvement; mucopolysaccharidosis, type 2; mucopolysaccharidosis, type ii; severe mps ii; sids deficiency; sulfo-iduronate sulfatase deficiency; sulfoiduronate sulfatase deficiency; sulfoiduronidate sulfatase deficiency","Curated_Disease_Description_Source__c":"GARD:0006675","Curated_Disease_Description__c":"Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body. The condition occurs almost exclusively in boys, although it has been reported in a few girls. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips; large, rounded cheeks; a broad nose; and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open. Many other organs and tissues are affected in people with MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), a short neck, an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to abnormalities in the heart's rhythm (arrhythmia) and heart failure. Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities that can be seen on x-rays. Dysostosis multiplex includes a generalized thickening of certain bones, particularly the ribs. There are two types of MPS II: the neuropathic form, which is more severe, and the non-neuropathic form, which is less severe. While both types affect many different organs and tissues as described above, people with neuropathic MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with this form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. Their life expectancy is 10 to 20 years. Individuals with non-neuropathic MPS II also have a shortened lifespan, but they typically live into adulthood, and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:580","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010674","ORPHANET_ID__c":"ORPHA:580; ORPHA:79388","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mucopolisacaridosis tipo 2","Spanish_Description_Source__c":"ORPHA:580","Spanish_Description__c":"Es una enfermedad de depósito lisosomal con afectación multisistémica que conduce a un acúmulo masivo de glucosaminoglucanos y una amplia variedad de síntomas que incluyen rasgos faciales toscos distintivos, talla baja, afectación cardiorrespiratoria y anomalías esqueléticas. Se manifiesta como un continuo clínico que varía desde una forma grave con neurodegeneración hasta una forma atenuada sin afectación neuronal.","Spanish_Disease_Name__c":"mucopolisacaridosis tipo 2","Spanish_GARD_Synonym__c":"deficiencia de iduronato 2-sulfatasa; mps2; mpsii; mucopolisacaridosis tipo ii; síndrome de hunter","Category_Linearization__c":"ORPHA:68367; ORPHA:89826","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":"Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body. The condition occurs almost exclusively in boys, although it has been reported in a few girls. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips; large, rounded cheeks; a broad nose; and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open. Many other organs and tissues are affected in people with MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), a short neck, an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to abnormalities in the heart's rhythm (arrhythmia) and heart failure. Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities that can be seen on x-rays. Dysostosis multiplex includes a generalized thickening of certain bones, particularly the ribs. There are two types of MPS II: the neuropathic form, which is more severe, and the non-neuropathic form, which is less severe. While both types affect many different organs and tissues as described above, people with neuropathic MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with this form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. Their life expectancy is 10 to 20 years. Individuals with non-neuropathic MPS II also have a shortened lifespan, but they typically live into adulthood, and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.","Curated_Disease_Description_Source__c":"GARD:0006675","GARD_Synonym__c":"attenuated mps (subtype; formerly known as mild mps ii); deficiency of iduronate-2-sulfatase; deficiency of iduronate-2-sulphatase; hunter disease; hunter syndrome; hunter's syndrome; i2s deficiency; ids deficiency; iduronate 2-sulfatase deficiency; iduronate sulfatase deficiency; mps 2; mps 2 - mucopolysaccharidosis 2; mps ii; mps ii - hunter syndrome; mps with skin involvement; mps2; mpsii; mpsii - mucopolysaccharidosis type ii; mucopolysaccharidosis ii; mucopolysaccharidosis ii, x-linked recessive; mucopolysaccharidosis type 2; mucopolysaccharidosis type ii; mucopolysaccharidosis with skin involvement; mucopolysaccharidosis, type 2; mucopolysaccharidosis, type ii; severe mps ii; sids deficiency; sulfo-iduronate sulfatase deficiency; sulfoiduronate sulfatase deficiency; sulfoiduronidate sulfatase deficiency","Name":"Mucopolysaccharidosis, MPS-II","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Isaac Foundation","Website__c":"https://www.theisaacfoundation.com/"},{"Account_Name__c":"Lysosomal Storage Disorders Support Society","Website__c":"https://lsdssindia.org/"},{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"Account_Name__c":"Project Alive (for Hunter syndrome)","Website__c":"https://projectalive.org/"},{"Account_Name__c":"Canadian MPS Society for Mucopolysaccharide and Related Diseases","Website__c":"https://www.mpssociety.ca/"},{"Account_Name__c":"National MPS Society","Website__c":"https://mpssociety.org/"},{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"},{"Account_Name__c":"Project Alive","Website__c":"https://projectalive.org"},{"Account_Name__c":"Hunter Patients","Website__c":"https://www.hunterpatients.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Glaucoma","Tag_Category__c":"Account","curated_tag_name":"Glaucoma"},{"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":"Childhood","Provided_By__c":"ORPHA:580"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0026705"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1274","Source__c":"Gene Review","Xref__c":"NBK1274"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016532","Source__c":"C0026705; MONDO:0010674","Xref__c":"D016532"},{"URL__c":"https://www.omim.org/entry/309900","Source__c":"C0026705; MONDO:0010674; ORPHA:580","Xref__c":"OMIM:309900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7734","Source__c":"C0026705","Xref__c":"MEDGEN:7734"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70737009","Source__c":"C0026705; MONDO:0010674","Xref__c":"70737009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12799","Source__c":"MONDO:0010674","Xref__c":"DOID:12799"},{"URL__c":"https://www.orpha.net/en/disease/detail/580","Source__c":"C0026705; MONDO:0010674; ORPHA:580","Xref__c":"ORPHA:580"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E76.1","Source__c":"MONDO:0010674","Xref__c":"E76.1"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61260","Source__c":"C0026705; MONDO:0010674","Xref__c":"C61260"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0026705","Source__c":"C0026705","Xref__c":"C0026705"},{"URL__c":"https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-ii","Source__c":"GARD:0006675","Xref__c":"https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-ii"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010674","Source__c":"GARD:0006675","Xref__c":"MONDO:0010674"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022410","Xref__c":"423022410"},{"URL__c":"https://www.fda.gov/media/141462/download"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IDS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ids","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","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:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000445","HPO_Synonym__c":"Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose","HPO_Name__c":"Wide nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the pulmonary valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001641","HPO_Synonym__c":"Abnormality of the pulmonary valve; Anomaly of the pulmonary valve","HPO_Name__c":"Abnormal pulmonary valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025160","HPO_Name__c":"Abnormal temper tantrums","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100710","HPO_Synonym__c":"Impulsive; Impulsivity","HPO_Name__c":"Impulsivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","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:580","HPO_Frequency__c":"Frequent (30-79%)","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:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006979","HPO_Synonym__c":"Internal-clock disorders; Sleep phase disturbance; Sleep-wake cycle disorders; Sleep-wake cycle disturbance; Sleep-wake mistiming","HPO_Name__c":"Sleep-wake cycle disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012185","HPO_Name__c":"Constrictive median neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","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:580","HPO_Frequency__c":"Uncommon (<1-4%)","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:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030466","HPO_Name__c":"Abnormal full-field electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000336","HPO_Synonym__c":"Prominent brow; Prominent supraorbital margins; Prominent supraorbital ridge; Protruding supraorbital ridge; Supraorbital hyperostosis","HPO_Name__c":"Prominent supraorbital ridges","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","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:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012478","HPO_Synonym__c":"Ankylosis of temporomandibular joint; Freezing of jaw joint; Freezing of the temporomandibular joint; Jaw ankylosis; Rigidity of the temporomandibular joint; Temporomandibular joint fusion","HPO_Name__c":"Temporomandibular joint ankylosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030812","HPO_Synonym__c":"Enlargement of tonsils; Tonsillar hypertrophy; tonsils large/hypertrophy","HPO_Name__c":"Enlarged tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","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:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000943","HPO_Name__c":"Dysostosis multiplex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001654","HPO_Synonym__c":"Abnormality of the heart valves; Valvular abnormality","HPO_Name__c":"Abnormal heart valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased resistance to the passage of air in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002781","HPO_Synonym__c":"Upper airway obstruction","HPO_Name__c":"Upper airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001129","HPO_Synonym__c":"Large central loss of field of vision","HPO_Name__c":"Large central visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005781","HPO_Name__c":"Contractures of the large joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008843","HPO_Synonym__c":"Osteoarthritis of hip","HPO_Name__c":"Hip osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001085","HPO_Name__c":"Papilledema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the tricuspid valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001702","HPO_Synonym__c":"Abnormality of the tricuspid valve","HPO_Name__c":"Abnormal tricuspid valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001679","HPO_Synonym__c":"Abnormal aorta morphology; Abnormality of the aorta","HPO_Name__c":"Abnormal aortic morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","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:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003552","HPO_Name__c":"Muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the mitral valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001633","HPO_Synonym__c":"Abnormality of the mitral valve","HPO_Name__c":"Abnormal mitral valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","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:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the formation and mineralization of an epiphysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010656","HPO_Synonym__c":"Abnormality of the mineralisation or ossification of the epiphyses","HPO_Name__c":"Abnormal epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","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:580","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","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:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002344","HPO_Synonym__c":"Neurologic deterioration; Neurologic deterioration, progressive; Progressive mental deterioration; Progressive neurodegeneration; Worsening neurological symptoms","HPO_Name__c":"Progressive neurologic deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000546","HPO_Synonym__c":"Retina degeneration","HPO_Name__c":"Retinal degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030044","HPO_Name__c":"Flexion contracture of digit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000362","HPO_Name__c":"Otosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010535","HPO_Synonym__c":"Pauses in breathing while sleeping; Sleep apnea; Sleep apnoea","HPO_Name__c":"Sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031416","HPO_Name__c":"Abnormal nasal mucus secretion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410018","HPO_Synonym__c":"Frequent ear infections; Recurrent ear infections","HPO_Name__c":"Recurrent ear infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004582","HPO_Name__c":"Irregularity of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007994","HPO_Synonym__c":"Kalnienk vision; Loss of peripheral vision","HPO_Name__c":"Peripheral visual field loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width of the skin of vermilion border region of upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012471","HPO_Synonym__c":"Full lips; Increased volume of lip; Increased volume of lip vermillion; Plump lips; Prominent lips; Thick lips","HPO_Name__c":"Thick vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001334","HPO_Name__c":"Communicating hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","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:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of dermatan sulfate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008301","HPO_Name__c":"Dermatan sulfate excretion in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:580","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of heparan sulfates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002159","HPO_Name__c":"Heparan sulfate excretion in urine","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Cardiology","Neurology","Ophthalmology","Dermatology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Lysosomal","Craniofacial Anomalies","Cardiomyopathy","Glaucoma"]},"synonyms":["attenuated mps (subtype"," formerly known as mild mps ii)"," deficiency of iduronate-2-sulfatase"," deficiency of iduronate-2-sulphatase"," hunter disease"," hunter syndrome"," hunter's syndrome"," i2s deficiency"," ids deficiency"," iduronate 2-sulfatase deficiency"," iduronate sulfatase deficiency"," mps 2"," mps 2 - mucopolysaccharidosis 2"," mps ii"," mps ii - hunter syndrome"," mps with skin involvement"," mps2"," mpsii"," mpsii - mucopolysaccharidosis type ii"," mucopolysaccharidosis ii"," mucopolysaccharidosis ii, x-linked recessive"," mucopolysaccharidosis type 2"," mucopolysaccharidosis type ii"," mucopolysaccharidosis with skin involvement"," mucopolysaccharidosis, type 2"," mucopolysaccharidosis, type ii"," severe mps ii"," sids deficiency"," sulfo-iduronate sulfatase deficiency"," sulfoiduronate sulfatase deficiency"," sulfoiduronidate sulfatase deficiency"]}