{"Name":"Progressive myositis ossificans","DiseaseID__c":"GARD:0006445","id":6445,"encodedName":"progressive-myositis-ossificans","IsDeleted":false,"Disease_Name_Full__c":"Progressive myositis ossificans","Xref_IDs__c":"423022395; 82725007; C0016037; C3040; DOID:13374; M61.1; MEDGEN:4698; MONDO:0007606; OMIM:135100; ORPHA:337","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":4,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007606","Disease_Description__c":"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.","GARD_Name__c":"Progressive myositis ossificans","GARD_Synonym__c":"diffuse progressive ossifying polymyositis; fibrodysplasia ossificans congenita; fibrodysplasia ossificans progressiva; fop; fop - fibrodysplasia ossificans progressiva; myositis ossificans progressiva; münchmeyer disease; progressive ossifying myositis; stone man syndrome","Curated_Disease_Description_Source__c":"GARD:0006445","Curated_Disease_Description__c":"Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a genetic change at the same place in the ACVR1 gene and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:337","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007606","ORPHANET_ID__c":"ORPHA:337","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibrodisplasia osificante progresiva","Spanish_Description_Source__c":"ORPHA:337","Spanish_Description__c":"La fibrodisplasia osificante progresiva (FOP) es un trastorno hereditario del tejido conectivo, gravemente incapacitante, caracterizado por malformaciones congénitas en los dedos gordos de los pies y una osificación heterotópica progresiva que forma huesos cualitativamente normales en sitios extraesqueléticos característicos.","Spanish_Disease_Name__c":"fibrodisplasia osificante progresiva","Spanish_GARD_Synonym__c":"enfermedad del hombre de piedra; miositis osificante progresiva","Category_Linearization__c":"ORPHA:93419","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":"Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) that restricts movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs. People with FOP are born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a genetic change at the same place in the ACVR1 gene and is inherited in an autosomal dominant manner. This condition occurs in about 1 in 1,600,000 newborns and about 800 people worldwide are known to have FOP.","Curated_Disease_Description_Source__c":"GARD:0006445","GARD_Synonym__c":"diffuse progressive ossifying polymyositis; fibrodysplasia ossificans congenita; fibrodysplasia ossificans progressiva; fop; fop - fibrodysplasia ossificans progressiva; myositis ossificans progressiva; münchmeyer disease; progressive ossifying myositis; stone man syndrome","Name":"Progressive myositis ossificans","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"International Fibrodysplasia Ossificans Progressiva Association","Website__c":"https://www.ifopa.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":"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":"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":"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:337"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0016037"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006445","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK558090","Source__c":"Gene Review","Xref__c":"NBK558090"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13374","Source__c":"MONDO:0007606","Xref__c":"DOID:13374"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=4698","Source__c":"C0016037","Xref__c":"MEDGEN:4698"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0016037","Source__c":"C0016037","Xref__c":"C0016037"},{"URL__c":"https://www.orpha.net/en/disease/detail/337","Source__c":"C0016037; MONDO:0007606; ORPHA:337","Xref__c":"ORPHA:337"},{"URL__c":"https://www.omim.org/entry/135100","Source__c":"C0016037; MONDO:0007606; ORPHA:337","Xref__c":"OMIM:135100"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3040","Source__c":"C0016037; MONDO:0007606","Xref__c":"C3040"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82725007","Source__c":"C0016037; MONDO:0007606","Xref__c":"82725007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007606","Source__c":"GARD:0006445","Xref__c":"MONDO:0007606"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M61.1","Source__c":"MONDO:0007606","Xref__c":"M61.1"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022395","Xref__c":"423022395"},{"URL__c":"https://www.ifopa.org/fda_wrap_up"},{"URL__c":"https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva"},{"URL__c":"https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva","Source__c":"GARD:0006445","Xref__c":"https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACVR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acvr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030084","HPO_Synonym__c":"Permanent curving of the finger","HPO_Name__c":"Clinodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the first digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001172","HPO_Synonym__c":"Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity","HPO_Name__c":"Abnormal thumb morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003367","HPO_Synonym__c":"Abnormal neck of thigh bone; Abnormality of the femoral neck","HPO_Name__c":"Abnormal femoral neck morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","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:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Formation of abnormal bony tissue within muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011987","HPO_Synonym__c":"Calcification of muscle tissue","HPO_Name__c":"Ectopic ossification in muscle tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more of the vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003468","HPO_Synonym__c":"Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies","HPO_Name__c":"Abnormal vertebral morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","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:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010058","HPO_Synonym__c":"Absent/small big toe bone; Absent/underdeveloped big toe bone","HPO_Name__c":"Aplasia/Hypoplasia of the phalanges of the hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030431","HPO_Synonym__c":"Osteocartilaginous exostoses; Osteochondromas","HPO_Name__c":"Osteochondroma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010109","HPO_Synonym__c":"Hypoplastic big toes; Hypoplastic hallux; Short big toe; Short halluces; Small hallux","HPO_Name__c":"Short hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003306","HPO_Synonym__c":"Reduced spine movement; Rigid spine","HPO_Name__c":"Spinal rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001822","HPO_Synonym__c":"Bunion; Lateral deviation of great toe; Lateral deviation of halluces","HPO_Name__c":"Hallux valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","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 hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030838","HPO_Synonym__c":"Hip pain","HPO_Name__c":"Hip pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"This term applies for all abnormalities of the big toe, also called hallux.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001844","HPO_Synonym__c":"Abnormalities of the hallux; Abnormality of the big toe; Abnormality of the hallux","HPO_Name__c":"Abnormal hallux morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The abnormal fusion of neighboring bones across a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100240","HPO_Synonym__c":"Bony ankylosis; Fusion of joints","HPO_Name__c":"Synostosis of joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002625","HPO_Synonym__c":"Blood clot in a deep vein; Deep vein thrombosis; Multiple deep venous thrombosis","HPO_Name__c":"Deep venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011986","HPO_Synonym__c":"Ectopic bone formation; Heterotopic ossification","HPO_Name__c":"Ectopic ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the first metatarsal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010054","HPO_Synonym__c":"Abnormality of the 1st long bone of foot","HPO_Name__c":"Abnormality of the first metatarsal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Formation of abnormal bony tissue within ligament tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011989","HPO_Name__c":"Ectopic ossification in ligament tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","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:337","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030038","HPO_Name__c":"Enchondroma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:337","HPO_Frequency__c":"Frequent (30-79%)","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:337","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002949","HPO_Synonym__c":"Cervical spine fusion; Cervical vertebral fusion; Fused neck; Fusion of cervical vertebrae","HPO_Name__c":"Fused cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["diffuse progressive ossifying polymyositis"," fibrodysplasia ossificans congenita"," fibrodysplasia ossificans progressiva"," fop"," fop - fibrodysplasia ossificans progressiva"," myositis ossificans progressiva"," münchmeyer disease"," progressive ossifying myositis"," stone man syndrome"]}