{"Name":"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","DiseaseID__c":"GARD:0000784","id":784,"encodedName":"arthrogryposis-like-hand-anomaly-sensorineural-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","Xref_IDs__c":"720515009; C1862471; C535386; DOID:0111609; MEDGEN:350677; MONDO:0007159; OMIM:108200; ORPHA:1144","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007159","Disease_Description__c":"A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.","GARD_Name__c":"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","GARD_Synonym__c":"arthrogryposis and sensorineural deafness; arthrogryposis-like hand anomaly and sensorineural deafness syndrome; arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome; arthrogryposis, distal, type 6; da6; distal arthrogryposis type 6","Curated_Disease_Description_Source__c":"MONDO:0007159","Curated_Disease_Description__c":"A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1144","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007159","ORPHANET_ID__c":"ORPHA:1144","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de anomalías de la mano similar a artrogriposis-sordera neurosensorial","Spanish_Description_Source__c":"ORPHA:1144","Spanish_Description__c":"Es un síndrome poco frecuente caracterizado por una anomalía de la mano similar a la artrogriposis y sordera neurosensorial. Se ha descrito en una sola familia, observándose una transmisión de hombre a hombre.","Spanish_Disease_Name__c":"síndrome de anomalías de la mano similar a artrogriposis-sordera neurosensorial","Spanish_GARD_Synonym__c":"artrogriposis distal tipo 6; síndrome de anomalías de la mano artrogriposis-like-sordera neurosensorial; síndrome de anomalías de la mano similar a artrogriposis-hipoacusia neurosensorial","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 syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.","Curated_Disease_Description_Source__c":"MONDO:0007159","GARD_Synonym__c":"arthrogryposis and sensorineural deafness; arthrogryposis-like hand anomaly and sensorineural deafness syndrome; arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome; arthrogryposis, distal, type 6; da6; distal arthrogryposis type 6","Name":"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.org/"}],"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":"Otolaryngology","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:1144"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1862471"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350677","Source__c":"C1862471","Xref__c":"MEDGEN:350677"},{"URL__c":"https://www.orpha.net/en/disease/detail/1144","Source__c":"C1862471; MONDO:0007159; ORPHA:1144","Xref__c":"ORPHA:1144"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720515009","Source__c":"C1862471; MONDO:0007159","Xref__c":"720515009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862471","Source__c":"C1862471","Xref__c":"C1862471"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111609","Source__c":"MONDO:0007159","Xref__c":"DOID:0111609"},{"URL__c":"https://www.omim.org/entry/108200","Source__c":"C1862471; MONDO:0007159; ORPHA:1144","Xref__c":"OMIM:108200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535386","Source__c":"MONDO:0007159","Xref__c":"C535386"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007159","Source__c":"GARD:0000784","Xref__c":"MONDO:0007159"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1144","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:1144","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1144","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1144","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1144","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["arthrogryposis and sensorineural deafness"," arthrogryposis-like hand anomaly and sensorineural deafness syndrome"," arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome"," arthrogryposis, distal, type 6"," da6"," distal arthrogryposis type 6"]}