{"Name":"Macrodactyly of toe","DiseaseID__c":"GARD:0006951","id":6951,"encodedName":"macrodactyly-of-toe","IsDeleted":false,"Disease_Name_Full__c":"Macrodactyly of toe","Xref_IDs__c":"4136000; C0158768; C537719; HP:0100747; MEDGEN:510644; MONDO:0017475; ORPHA:295047","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:295047","Disease_Description__c":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.","GARD_Name__c":"Macrodactyly of toe","GARD_Synonym__c":"foot macrodactyly; macrodactyly of foot; macrodactyly of toes","Curated_Disease_Description_Source__c":"ORPHA:295047","Curated_Disease_Description__c":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:295047","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017475","ORPHANET_ID__c":"ORPHA:295047","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macrodactilia de los dedos del pie","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"macrodactilia de los dedos del pie","Spanish_GARD_Synonym__c":"macrodactilia del pie","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":"A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.","Curated_Disease_Description_Source__c":"ORPHA:295047","GARD_Synonym__c":"foot macrodactyly; macrodactyly of foot; macrodactyly of toes","Name":"Macrodactyly of toe","estimateUsa":""}],"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":"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:295047"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:295047"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=510644","Source__c":"C0158768","Xref__c":"MEDGEN:510644"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158768","Source__c":"C0158768","Xref__c":"C0158768"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537719","Source__c":"MONDO:0017475","Xref__c":"C537719"},{"URL__c":"https://www.orpha.net/en/disease/detail/295047","Source__c":"C0158768; MONDO:0017475; ORPHA:295047","Xref__c":"ORPHA:295047"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=4136000","Source__c":"C0158768","Xref__c":"4136000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017475","Source__c":"GARD:0006951","Xref__c":"MONDO:0017475"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100747","Source__c":"C0158768","Xref__c":"HP:0100747"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001829","HPO_Synonym__c":"Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot","HPO_Name__c":"Foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010165","HPO_Synonym__c":"Enlarged end part of the toe bones","HPO_Name__c":"Enlarged epiphyses of the toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or more bent (flexed) toe joints that cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005830","HPO_Synonym__c":"Contractures involving the toes; Contractures of the toes; Toe contractures","HPO_Name__c":"Flexion contracture of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Steatosis is a term used to denote lipid accumulation within hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001397","HPO_Synonym__c":"Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis","HPO_Name__c":"Hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","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:295047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008082","HPO_Name__c":"Medial deviation of the foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A type of Macrodactyly affecting one or several toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100747","HPO_Synonym__c":"Foot macrodactyly","HPO_Name__c":"Macrodactyly of toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008371","HPO_Synonym__c":"Abnormal ossification involving metatarsal bones","HPO_Name__c":"Abnormal metatarsal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012032","HPO_Synonym__c":"Fatty lump; Noncancerous fatty lump","HPO_Name__c":"Lipoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased side-to-side width of a metatarsal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001783","HPO_Synonym__c":"Wide long bone of foot","HPO_Name__c":"Broad metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008108","HPO_Synonym__c":"Precociously ossified tarsal bones","HPO_Name__c":"Advanced tarsal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:295047","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["foot macrodactyly"," macrodactyly of foot"," macrodactyly of toes"]}