{"Name":"Pseudo-Hurler polydystrophy","DiseaseID__c":"GARD:0017704","id":17704,"encodedName":"pseudo-hurler-polydystrophy","IsDeleted":false,"Disease_Name_Full__c":"Pseudo-Hurler polydystrophy","Xref_IDs__c":"65764006; C0033788; DOID:0080071; MEDGEN:10988; MONDO:0018931; OMIM:252600","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018931","Disease_Description__c":"Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.","GARD_Name__c":"Pseudo-Hurler polydystrophy","GARD_Synonym__c":"ml 3 alpha/beta; ml iii; ml iii alpha/beta; ml iiia; mliii; mucolipidosis iii; mucolipidosis iiia; mucolipidosis type 3 alpha/beta; mucolipidosis type iii; mucolipidosis type iii, alpha/beta; mucolipidosis, type iii alpha/beta; pseudo hurler polydystrophy; pseudo-hurler disease; pseudo-hurler's disease; type iii mucolipidosis","Curated_Disease_Description_Source__c":"MONDO:0018931","Curated_Disease_Description__c":"Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.\r\n\r\nIndividuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta.\r\n\r\nPeople with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or \"coarse\" over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:423461","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018931","ORPHANET_ID__c":"ORPHA:423461; ORPHA:577","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:423461","Spanish_Description__c":"La mucolipidosis tipo III alfa/beta (MLIII alfa/beta) es una enfermedad de depósito lisosomal caracterizada por el retraso progresivo de la tasa de crecimiento desde la primera infancia, rigidez y dolor articular, tosquedad gradual de los rasgos faciales, retraso moderado en el desarrollo y discapacidad intelectual leve en la mayoría de los pacientes.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.\r\n\r\nIndividuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta.\r\n\r\nPeople with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or \"coarse\" over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan.","Curated_Disease_Description_Source__c":"MONDO:0018931","GARD_Synonym__c":"ml 3 alpha/beta; ml iii; ml iii alpha/beta; ml iiia; mliii; mucolipidosis iii; mucolipidosis iiia; mucolipidosis type 3 alpha/beta; mucolipidosis type iii; mucolipidosis type iii, alpha/beta; mucolipidosis, type iii alpha/beta; pseudo hurler polydystrophy; pseudo-hurler disease; pseudo-hurler's disease; type iii mucolipidosis","Name":"Pseudo-Hurler polydystrophy","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure Mucolipidosis","Website__c":"https://www.curemucolipidosis.org"},{"Account_Name__c":"Society for Mucopolysaccharide Diseases","Website__c":"https://www.mpssociety.org.uk/"},{"Account_Name__c":"National MPS Society","Website__c":"https://mpssociety.org/"},{"Account_Name__c":"The International Advocates for Glycoprotein Storage Diseases (ISMRD)","Website__c":"https://www.ismrd.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1828","Source__c":"Gene Review","Xref__c":"NBK1828"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080071","Source__c":"MONDO:0018931","Xref__c":"DOID:0080071"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10988","Source__c":"C0033788","Xref__c":"MEDGEN:10988"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=65764006","Source__c":"C0033788; MONDO:0018931","Xref__c":"65764006"},{"URL__c":"https://www.omim.org/entry/252600","Source__c":"C0033788; MONDO:0018931","Xref__c":"OMIM:252600"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0033788","Source__c":"C0033788","Xref__c":"C0033788"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018931","Source__c":"GARD:0017704","Xref__c":"MONDO:0018931"},{"URL__c":"https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta"},{"URL__c":"https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta","Source__c":"GARD:0017704","Xref__c":"https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNPTAB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnptab","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","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":"OMIM:252600","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A partial dislocation of the atlantoaxial joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003320","HPO_Name__c":"C1-C2 subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001357","HPO_Synonym__c":"Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of skull; Rhomboid shaped cranium; Rhomboid shaped skull","HPO_Name__c":"Plagiocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034337","HPO_Name__c":"Claw hand deformity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003333","HPO_Name__c":"Increased serum beta-hexosaminidase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006380","HPO_Synonym__c":"Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Knee flexion contractures; Knee flexion deformity","HPO_Name__c":"Knee flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003182","HPO_Synonym__c":"Shallow acetabula; Shallow acetabulae; Shallow acetabular fossa; Shallow acetabulum","HPO_Name__c":"Shallow acetabular fossae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003264","HPO_Name__c":"Deficiency of N-acetylglucosamine-1-phosphotransferase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000243","HPO_Synonym__c":"Triangular cranium shape; Triangular skull shape; Wedge shaped cranium; Wedge shaped skull","HPO_Name__c":"Trigonocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012666","HPO_Synonym__c":"Severely reduced ejection fraction","HPO_Name__c":"Severely reduced left ventricular ejection fraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Echocardiogram"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive amounts of mucopolysaccharide in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008155","HPO_Name__c":"Mucopolysacchariduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000484","HPO_Name__c":"Hyperopic astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003302","HPO_Synonym__c":"Displacement of one backbone compared to another; Slipped backbone; Spondylolithesis","HPO_Name__c":"Spondylolisthesis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007178","HPO_Synonym__c":"Peripheral motor neuropathy","HPO_Name__c":"Motor polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"Carpal bones with irregular or fragmented margins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004236","HPO_Name__c":"Irregular carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"Increased width of ribs","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000885","HPO_Synonym__c":"Broad ribs; Wide ribs","HPO_Name__c":"Broad ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"Underdevelopment of one or more carpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001498","HPO_Synonym__c":"Hypoplasia of carpal bones; Hypoplastic carpal bones; Small carpal bones; Small carpals","HPO_Name__c":"Carpal bone hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of one half of the vertebral body in the lumbar spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008439","HPO_Name__c":"Lumbar hemivertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","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":"OMIM:252600","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006162","HPO_Synonym__c":"Soft tissue swelling of hinge joints","HPO_Name__c":"Soft tissue swelling of interphalangeal joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002680","HPO_Synonym__c":"Hour glass shaped hypophysial fossa; Hour glass shaped pituitary fossa; Hour glass shaped sella turcica; J-shaped sella; Omega shaped sella turcica","HPO_Name__c":"J-shaped sella turcica","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased level of iduronate-2-sulfatase activity in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003538","HPO_Synonym__c":"Increased serum iduronate sulfatase level","HPO_Name__c":"Increased iduronate sulfatase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"Reduced rib length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000773","HPO_Synonym__c":"Hypoplastic ribs; Rib hypoplasia; Short ribs","HPO_Name__c":"Short ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","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":"OMIM:252600","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:252600","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Orthopedics"],"Account":["Lysosomal"]},"synonyms":["ml 3 alpha/beta"," ml iii"," ml iii alpha/beta"," ml iiia"," mliii"," mucolipidosis iii"," mucolipidosis iiia"," mucolipidosis type 3 alpha/beta"," mucolipidosis type iii"," mucolipidosis type iii, alpha/beta"," mucolipidosis, type iii alpha/beta"," pseudo hurler polydystrophy"," pseudo-hurler disease"," pseudo-hurler's disease"," type iii mucolipidosis"]}