{"Name":"Calcaneonavicular coalition","DiseaseID__c":"GARD:0009863","id":9863,"encodedName":"calcaneonavicular-coalition","IsDeleted":false,"Disease_Name_Full__c":"Calcaneonavicular coalition","Xref_IDs__c":"62628008; C1876184; C538156; DOID:14762; MEDGEN:360296; MONDO:0008518; OMIM:186400","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008518","Disease_Description__c":"A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.","GARD_Name__c":"Calcaneonavicular coalition","GARD_Synonym__c":"synostoses, tarsal, carpal and digital; synostoses, tarsal, carpal, and digital","Curated_Disease_Description_Source__c":"MEDGEN:C0175700","Curated_Disease_Description__c":"Symphalangism, synostoses of the tarsal and carpal bones and other abnormalities, including orofacial defects and delayed mental development occurring alone or as a component of other syndromes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:186400","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008518","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Symphalangism, synostoses of the tarsal and carpal bones and other abnormalities, including orofacial defects and delayed mental development occurring alone or as a component of other syndromes.","Curated_Disease_Description_Source__c":"MEDGEN:C0175700","GARD_Synonym__c":"synostoses, tarsal, carpal and digital; synostoses, tarsal, carpal, and digital","Name":"Calcaneonavicular coalition","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14762","Source__c":"MONDO:0008518","Xref__c":"DOID:14762"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=360296","Source__c":"C1876184","Xref__c":"MEDGEN:360296"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538156","Source__c":"MONDO:0008518","Xref__c":"C538156"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1876184","Source__c":"C1876184","Xref__c":"C1876184"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62628008","Source__c":"MONDO:0008518","Xref__c":"62628008"},{"URL__c":"https://www.omim.org/entry/186400","Source__c":"C1876184; MONDO:0008518","Xref__c":"OMIM:186400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008518","Source__c":"GARD:0009863","Xref__c":"MONDO:0008518"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Description__c":"Partial dislocation of the head of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003048","HPO_Synonym__c":"Radial subluxation; Radial-head subluxation","HPO_Name__c":"Radial head subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009843","HPO_Synonym__c":"Absent/hypoplastic middle phalanges; Absent/small middle finger bone of the hand; Absent/underdeveloped middle finger bone of the hand; Aplasia/hypoplasia of middle phalanges; Aplastic/hypoplastic middle phalanges; Hypoplastic/aplastic middle phalanx; Short to absent middle phalanges; Short/absent middle phalanges","HPO_Name__c":"Aplasia/Hypoplasia of the middle phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009702","HPO_Synonym__c":"Carpal bone fusion; Carpal fusion; Fused carpal bones; Fusion of carpal bones; Synostosis involving the carpal bones","HPO_Name__c":"Carpal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Description__c":"Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005880","HPO_Synonym__c":"Fused long bone of hand with innermost finger bone","HPO_Name__c":"Metacarpophalangeal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Description__c":"Thinned, deficient, or excessively arched ala nasi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000430","HPO_Synonym__c":"Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril","HPO_Name__c":"Underdeveloped nasal alae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:186400","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["synostoses, tarsal, carpal and digital"," synostoses, tarsal, carpal, and digital"]}