{"Name":"Type A2 brachydactyly","DiseaseID__c":"GARD:0000979","id":979,"encodedName":"type-a2-brachydactyly","IsDeleted":false,"Disease_Name_Full__c":"Type A2 brachydactyly","Xref_IDs__c":"720569006; C1832702; C537089; DOID:0110965; HP:0009372; MEDGEN:318690; MONDO:0007216; OMIM:112600; ORPHA:93396","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007216","Disease_Description__c":"A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.","GARD_Name__c":"Type A2 brachydactyly","GARD_Synonym__c":"bda2; brachydactyly mohr wriedt type; brachydactyly type a2; brachydactyly, mohr-wriedt type; brachymesophalangy ii; brachymesophalangy type 2; mohr-wriedt type brachydactyly; short index fingers and second toes","Curated_Disease_Description_Source__c":"GARD:0000979","Curated_Disease_Description__c":"Brachydactyly type A2 is a very rare condition affecting the middle bone (middle phalanx) of the index finger and the second toe. Typically, people affected by Brachydactyly type A2 have very short (hypoplastic) middle bones of these digits. In some individuals, the bone above the middle phalanx (distal phalanx) is shifted as well, so that the fingers and toes may look misshapen. There have not been reports of other symptoms associated with Brachydactyly type A2. Typically, Brachydactyly type A2 does not require surgery, and affected individuals are able to use their hands normally.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93396","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007216","ORPHANET_ID__c":"ORPHA:93396","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia tipo a2","Spanish_Description_Source__c":"ORPHA:93396","Spanish_Description__c":"Es una malformación congénita poco frecuente de las extremidades que se caracteriza por el acortamiento (hipoplasia o aplasia) de las falanges medias del dedo índice y, en ocasiones, del quinto dedo de la mano. En las radiografías, la falange media de los dedos índice suele tener un aspecto triangular y, en los casos gravemente afectados, el dedo índice está curvado radialmente. El fenotipo de las extremidades inferiores suele ser más leve.","Spanish_Disease_Name__c":"braquidactilia tipo a2","Spanish_GARD_Synonym__c":"braquidactilia tipo mohr-wriedt","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":"Brachydactyly type A2 is a very rare condition affecting the middle bone (middle phalanx) of the index finger and the second toe. Typically, people affected by Brachydactyly type A2 have very short (hypoplastic) middle bones of these digits. In some individuals, the bone above the middle phalanx (distal phalanx) is shifted as well, so that the fingers and toes may look misshapen. There have not been reports of other symptoms associated with Brachydactyly type A2. Typically, Brachydactyly type A2 does not require surgery, and affected individuals are able to use their hands normally.","Curated_Disease_Description_Source__c":"GARD:0000979","GARD_Synonym__c":"bda2; brachydactyly mohr wriedt type; brachydactyly type a2; brachydactyly, mohr-wriedt type; brachymesophalangy ii; brachymesophalangy type 2; mohr-wriedt type brachydactyly; short index fingers and second toes","Name":"Type A2 brachydactyly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:93396"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93396"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832702"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000979","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/93396","Source__c":"MONDO:0007216","Xref__c":"ORPHA:93396"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110965","Source__c":"MONDO:0007216","Xref__c":"DOID:0110965"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537089","Source__c":"MONDO:0007216","Xref__c":"C537089"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720569006","Source__c":"C1832702; MONDO:0007216","Xref__c":"720569006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832702","Source__c":"C1832702","Xref__c":"C1832702"},{"URL__c":"https://www.omim.org/entry/112600","Source__c":"C1832702; MONDO:0007216; ORPHA:93396","Xref__c":"OMIM:112600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318690","Source__c":"C1832702","Xref__c":"MEDGEN:318690"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009372","Source__c":"C1832702","Xref__c":"HP:0009372"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007216","Source__c":"GARD:0000979","Xref__c":"MONDO:0007216"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BMPR1B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BMP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93396","HPO_Frequency__c":"Frequent (30-79%)","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:93396","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001773","HPO_Synonym__c":"Hypoplastic feet; Short feet; Short foot; Small feet","HPO_Name__c":"Short foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93396","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:93396","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short second metacarpal bone because of developmental hypoplasia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010038","HPO_Synonym__c":"Rudimentary 2nd metacarpal; Shortened 2nd long bone of hand","HPO_Name__c":"Short 2nd metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93396","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93396","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009372","HPO_Synonym__c":"Short index fingers and second toes","HPO_Name__c":"Type A2 brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93396","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009568","HPO_Synonym__c":"Absent/hypoplastic middle phalanx of 2nd finger; Absent/small middle index finger bone; Absent/underdeveloped middle index finger bone; Hypoplastic/aplastic middle phalanx of index finger","HPO_Name__c":"Aplasia/Hypoplasia of the middle phalanx of the 2nd 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":["bda2"," brachydactyly mohr wriedt type"," brachydactyly type a2"," brachydactyly, mohr-wriedt type"," brachymesophalangy ii"," brachymesophalangy type 2"," mohr-wriedt type brachydactyly"," short index fingers and second toes"]}