{"Name":"Brachydactyly type A4","DiseaseID__c":"GARD:0000990","id":990,"encodedName":"brachydactyly-type-a4","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly type A4","Xref_IDs__c":"715721005; C1862139; C537097; DOID:0110967; MEDGEN:354669; MONDO:0007218; OMIM:112800; ORPHA:93394","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007218","Disease_Description__c":"A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.","GARD_Name__c":"Brachydactyly type A4","GARD_Synonym__c":"bda4; brachydactyly temtamy type; brachydactyly, temtamy type; brachymesophalangy ii and v; temtamy type brachydactyly; type a4 brachydactyly","Curated_Disease_Description_Source__c":"MONDO:0007218","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.","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:93394","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007218","ORPHANET_ID__c":"ORPHA:93394","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia tipo a4","Spanish_Description_Source__c":"ORPHA:93394","Spanish_Description__c":"Es una rara malformación congénita de las extremidades caracterizada por falanges medias cortas de los dedos segundo y quinto de la mano y ausencia de las falanges medias de los dedos segundo a quinto de los pies. Ocasionalmente, el cuarto dedo puede verse afectado y se manifiesta con una falange media de forma anómala que causa una desviación radial de falange distal. También puede asociar otras malformaciones en manos/ pies, como sindactilia, polidactilia, defectos de reducción y sinfalangismo.","Spanish_Disease_Name__c":"braquidactilia tipo a4","Spanish_GARD_Synonym__c":"braquidactilia-clinodactilia","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 congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.","Curated_Disease_Description_Source__c":"MONDO:0007218","GARD_Synonym__c":"bda4; brachydactyly temtamy type; brachydactyly, temtamy type; brachymesophalangy ii and v; temtamy type brachydactyly; type a4 brachydactyly","Name":"Brachydactyly type A4","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:93394"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93394"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/93394","Source__c":"MONDO:0007218","Xref__c":"ORPHA:93394"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110967","Source__c":"MONDO:0007218","Xref__c":"DOID:0110967"},{"URL__c":"https://www.omim.org/entry/112800","Source__c":"C1862139; MONDO:0007218; ORPHA:93394","Xref__c":"OMIM:112800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537097","Source__c":"MONDO:0007218","Xref__c":"C537097"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=354669","Source__c":"C1862139","Xref__c":"MEDGEN:354669"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862139","Source__c":"C1862139","Xref__c":"C1862139"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715721005","Source__c":"C1862139; MONDO:0007218","Xref__c":"715721005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007218","Source__c":"GARD:0000990","Xref__c":"MONDO:0007218"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0031043","Source__c":"C1862139","Xref__c":"HP:0031043"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal shortening of all middle phalanges of toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006239","HPO_Synonym__c":"Brachymesophalangy of feet; Shortening of all the middle bones of the toes","HPO_Name__c":"Shortening of all middle phalanges of the toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93394","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:93394","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009577","HPO_Synonym__c":"Brachymesophalangy II (finger); Hypoplastic middle index finger phalanx; Hypoplastic/small middle phalanx of the 2nd finger; Short middle bone of index finger","HPO_Name__c":"Short middle phalanx of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93394","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplastic/small middle phalanx of the fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004220","HPO_Synonym__c":"5th finger middle phalangeal hypoplasia; Brachymesophalangism V; Brachymesophalangy V (finger); Fifth finger mid-phalanx hypoplasia; Hypoplastic fifth finger middle phalanx; Hypoplastic middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the little finger; Short middle bone of the little finger; Short middle bone of the pinkie finger; Short middle bone of the pinky finger; Short middle phalanx of the little finger; Type A3 brachydactyly","HPO_Name__c":"Short middle phalanx of the 5th finger","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":["bda4"," brachydactyly temtamy type"," brachydactyly, temtamy type"," brachymesophalangy ii and v"," temtamy type brachydactyly"," type a4 brachydactyly"]}