{"Name":"Nail-patella syndrome","DiseaseID__c":"GARD:0007160","id":7160,"encodedName":"nail-patella-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Nail-patella syndrome","Xref_IDs__c":"22199006; C0027341; C75120; D009261; DOID:9467; MEDGEN:10257; MONDO:0008061; NBK1132; OMIM:161200; ORPHA:2614","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0008061","Disease_Description__c":"A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.","GARD_Name__c":"Nail-patella syndrome","GARD_Synonym__c":"fong disease; hereditary onychoostedysplasia; hereditary osteo-onychodysplasia; iliac horn syndrome; nail patella syndrome; nps; nps 1; nps1; onychoosteodysplasia; osteo-onychodysplasia; turner kieser syndrome; turner-kieser syndrome; turner-kiser syndrome","Curated_Disease_Description_Source__c":"GARD:0007160","Curated_Disease_Description__c":"Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. Individuals with nail-patella syndrome also commonly have skeletal abnormalities  involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2614","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008061","ORPHANET_ID__c":"ORPHA:2614","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome uña-rótula","Spanish_Description_Source__c":"ORPHA:2614","Spanish_Description__c":"Es una disostosis patelar hereditaria poco frecuente caracterizada por hipoplasia o aplasia de las uñas y rótulas, displasia de codo y presencia de cuernos ilíacos, así como anomalías renales y oculares.","Spanish_Disease_Name__c":"síndrome uña-rótula","Spanish_GARD_Synonym__c":null,"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":"Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. Individuals with nail-patella syndrome also commonly have skeletal abnormalities  involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing. Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.","Curated_Disease_Description_Source__c":"GARD:0007160","GARD_Synonym__c":"fong disease; hereditary onychoostedysplasia; hereditary osteo-onychodysplasia; iliac horn syndrome; nail patella syndrome; nps; nps 1; nps1; onychoosteodysplasia; osteo-onychodysplasia; turner kieser syndrome; turner-kieser syndrome; turner-kiser syndrome","Name":"Nail-patella syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Nail Patella Syndrome Worldwide","Website__c":"http://www.npsw.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"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":"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":"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":"Glaucoma","Tag_Category__c":"Account","curated_tag_name":"Glaucoma"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2614"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2614"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2614"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2614"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0027341"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007160","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1132","Source__c":"Gene Review","Xref__c":"NBK1132"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027341","Source__c":"C0027341","Xref__c":"C0027341"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10257","Source__c":"C0027341","Xref__c":"MEDGEN:10257"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75120","Source__c":"C0027341; MONDO:0008061","Xref__c":"C75120"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9467","Source__c":"MONDO:0008061","Xref__c":"DOID:9467"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009261","Source__c":"C0027341; MONDO:0008061","Xref__c":"D009261"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22199006","Source__c":"C0027341; MONDO:0008061","Xref__c":"22199006"},{"URL__c":"https://www.omim.org/entry/161200","Source__c":"C0027341; MONDO:0008061; ORPHA:2614","Xref__c":"OMIM:161200"},{"URL__c":"https://www.orpha.net/en/disease/detail/2614","Source__c":"C0027341; MONDO:0008061; ORPHA:2614","Xref__c":"ORPHA:2614"},{"URL__c":"https://medlineplus.gov/genetics/condition/nail-patella-syndrome","Source__c":"GARD:0007160","Xref__c":"https://medlineplus.gov/genetics/condition/nail-patella-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008061","Source__c":"GARD:0007160","Xref__c":"MONDO:0008061"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMX1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lmx1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of a digit, i.e., of a finger or toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011297","HPO_Synonym__c":"Abnormality of digit; Abnormality of fingers or toes; Digital anomalies","HPO_Name__c":"Abnormal digit morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","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:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010886","HPO_Synonym__c":"Osteochondrosis dissecans","HPO_Name__c":"Osteochondritis dissecans","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the patella (knee cap).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003045","HPO_Synonym__c":"Abnormal kneecap; Abnormality of the patella; Patellar abnormality","HPO_Name__c":"Abnormal patella morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005290","HPO_Synonym__c":"Decreased size of internal carotid artery; Small internal carotid artery","HPO_Name__c":"Internal carotid artery hypoplasia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004722","HPO_Synonym__c":"Thickening of the glomerular basement membrane","HPO_Name__c":"Thickened glomerular basement membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012108","HPO_Name__c":"Open angle glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A contracture of the Achilles tendon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001771","HPO_Synonym__c":"Achilles tendon contractures; Contractures of the Achilles tendon; Shortening of the achilles tendon; Tight achilles tendon","HPO_Name__c":"Achilles tendon contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003065","HPO_Synonym__c":"Hypoplastic patellae; Small kneecap; Small patella; Small patellae; Underdeveloped kneecap","HPO_Name__c":"Patellar hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","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:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal positioning in which the elbows are turned out.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002967","HPO_Synonym__c":"Outward turned elbows","HPO_Name__c":"Cubitus valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","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:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006443","HPO_Synonym__c":"Absent kneecap; Absent patella; Absent patellae; Absent patellas; Aplastic patellae","HPO_Name__c":"Patellar aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation affecting the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000123","HPO_Synonym__c":"Kidney inflammation","HPO_Name__c":"Nephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:2614","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002597","HPO_Synonym__c":"Abnormality of blood vessels; Abnormality of the vasculature; Vascular abnormalities","HPO_Name__c":"Abnormality of the vasculature","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008007","HPO_Name__c":"Primary congenital glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003304","HPO_Name__c":"Spondylolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","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:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the toenails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100797","HPO_Synonym__c":"Abnormal toenail development; Dysplastic toenails","HPO_Name__c":"Toenail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006702","HPO_Name__c":"Coronary artery dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000100","HPO_Synonym__c":"Nephrosis","HPO_Name__c":"Nephrotic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to perceive painful stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007328","HPO_Synonym__c":"Decreased pain sensation; Decreased pinprick sensation; Impaired pain sensation","HPO_Name__c":"Impaired pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009780","HPO_Name__c":"Iliac horns","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031910","HPO_Name__c":"Abnormal cranial nerve physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","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:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the tibia (shinbone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002992","HPO_Synonym__c":"Abnormality of the shankbone; Abnormality of the shinbone; Abnormality of tibia morphology","HPO_Name__c":"Abnormal tibia morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008034","HPO_Name__c":"Abnormal iris pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009781","HPO_Name__c":"Lester's sign","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009890","HPO_Synonym__c":"High frontal hairline","HPO_Name__c":"High anterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \\\"up and out\\\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001884","HPO_Synonym__c":"Pes calcaneovarus","HPO_Name__c":"Talipes calcaneovalgus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006394","HPO_Synonym__c":"Limited pronation/supination of forearm","HPO_Name__c":"Limited pronation/supination of forearm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","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:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012718","HPO_Synonym__c":"Abnormal shape of the digestive system; Morphological abnormality of the gastrointestinal tract; Morphological abnormality of the GI tract; Morphological anomaly of the digestive system","HPO_Name__c":"Abnormal gastrointestinal tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","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:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003083","HPO_Synonym__c":"Congenital radial head dislocation; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation","HPO_Name__c":"Dislocated radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008110","HPO_Name__c":"Equinovarus deformity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","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:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100798","HPO_Synonym__c":"Abnormal fingernail development; Dysplastic fingernails","HPO_Name__c":"Fingernail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deformity of foot and ankle in which the foot is bent down and outwards.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001772","HPO_Name__c":"Talipes equinovalgus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009760","HPO_Synonym__c":"Pterygium cubitale; Webbed elbow","HPO_Name__c":"Antecubital pterygium","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009697","HPO_Name__c":"Contracture of the distal interphalangeal joint of the fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","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:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the upper and the lower arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009811","HPO_Synonym__c":"Abnormality of the elbow; Abnormality of the elbows","HPO_Name__c":"Abnormality of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031006","HPO_Name__c":"Acroparesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","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:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) 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:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limited ability to straighten the arm at the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001377","HPO_Synonym__c":"Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Reduced elbow extension; Restricted elbow extension","HPO_Name__c":"Limited elbow extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045086","HPO_Synonym__c":"Knee joint over-flexibility","HPO_Name__c":"Knee joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","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:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003199","HPO_Synonym__c":"Decreased muscle mass","HPO_Name__c":"Decreased muscle mass","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005190","HPO_Name__c":"Proximal finger joint hyperextensibility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002823","HPO_Synonym__c":"Abnormality of femur morphology; Abnormality of the femora; Abnormality of the thighbone","HPO_Name__c":"Abnormal femur morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008124","HPO_Name__c":"Talipes calcaneovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2614","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Nephrology","Dermatology","Orthopedics","Pediatrics"],"Account":["Nephrology","Dermatology","Glaucoma"]},"synonyms":["fong disease"," hereditary onychoostedysplasia"," hereditary osteo-onychodysplasia"," iliac horn syndrome"," nail patella syndrome"," nps"," nps 1"," nps1"," onychoosteodysplasia"," osteo-onychodysplasia"," turner kieser syndrome"," turner-kieser syndrome"," turner-kiser syndrome"]}