{"Name":"Familial digital arthropathy-brachydactyly","DiseaseID__c":"GARD:0016735","id":16735,"encodedName":"familial-digital-arthropathy-brachydactyly","IsDeleted":false,"Disease_Name_Full__c":"Familial digital arthropathy-brachydactyly","Xref_IDs__c":"C175208; C1847406; C564656; MEDGEN:335678; MONDO:0011732; OMIM:606835; ORPHA:85169","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:0011732","Disease_Description__c":"Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.","GARD_Name__c":"Familial digital arthropathy-brachydactyly","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:85169","Curated_Disease_Description__c":"Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. Inheritance is autosomal dominant.","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:85169","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011732","ORPHANET_ID__c":"ORPHA:85169","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Artropatía digital-braquidactilia familiar","Spanish_Description_Source__c":"ORPHA:85169","Spanish_Description__c":"Es un trastorno caracterizado por la asociación de artropatía de las articulaciones interfalángicas, metacarpofalángicas y metatarsofalángicas con braquidactilia de las falanges media y distal. Se ha descrito en varios miembros de cinco generaciones de una familia numerosa. La herencia es autosómica dominante.","Spanish_Disease_Name__c":"artropatía digital-braquidactilia familiar","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":"Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. Inheritance is autosomal dominant.","Curated_Disease_Description_Source__c":"ORPHA:85169","Name":"Familial digital arthropathy-brachydactyly","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":"Infancy","Provided_By__c":"ORPHA:85169"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85169"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201366","Source__c":"Gene Review","Xref__c":"NBK201366"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C175208","Source__c":"C1847406; MONDO:0011732","Xref__c":"C175208"},{"URL__c":"https://www.omim.org/entry/606835","Source__c":"C1847406; MONDO:0011732; ORPHA:85169","Xref__c":"OMIM:606835"},{"URL__c":"https://www.orpha.net/en/disease/detail/85169","Source__c":"C1847406; MONDO:0011732; ORPHA:85169","Xref__c":"ORPHA:85169"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564656","Source__c":"MONDO:0011732","Xref__c":"C564656"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847406","Source__c":"C1847406","Xref__c":"C1847406"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335678","Source__c":"C1847406","Xref__c":"MEDGEN:335678"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011732","Source__c":"GARD:0016735","Xref__c":"MONDO:0011732"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpv4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally short distal phalanx of toe of all toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005793","HPO_Synonym__c":"Shortening of all outermost bone of the toes","HPO_Name__c":"Shortening of all distal phalanges of the toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85169","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004268","HPO_Name__c":"Osteoarthritis of the small joints of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85169","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:85169","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":[""]}