{"Name":"Acheiropodia","DiseaseID__c":"GARD:0000376","id":376,"encodedName":"acheiropodia","IsDeleted":false,"Disease_Name_Full__c":"Acheiropodia","Xref_IDs__c":"177504007; C0265559; C536014; DOID:0050603; MEDGEN:120547; MONDO:0008700; OMIM:200500; ORPHA:931","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:0008700","Disease_Description__c":"An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.","GARD_Name__c":"Acheiropodia","GARD_Synonym__c":"acheiropody; acheiropody, brazilian type; achp; agenesis of hands and feet; horn-kolb syndrome","Curated_Disease_Description_Source__c":"GARD:0000376","Curated_Disease_Description__c":"Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the bones of the hands and feet. The condition appears to affect only the extremities, with no other signs and symptoms reported. It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:931","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008700","ORPHANET_ID__c":"ORPHA:931","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aqueiropodia aislada","Spanish_Description_Source__c":"ORPHA:931","Spanish_Description__c":"Es un trastorno del desarrollo extremadamente infrecuente caracterizado por amputación bilateral, congénita y completa de las extremidades distales (amputación de la epífisis distal del húmero, porción distal de la diáfisis tibial, aplasia del radio, cúbito, peroné) y aplasia de manos y pies (aplasia de huesos del carpo, metacarpiano, tarso, metatarsiano y falange). En raras ocasiones, se puede encontrar formación de hueso ectópico en el extremo distal del húmero. No se han descrito otras manifestaciones sistémicas y el trastorno sigue un patrón de herencia autosómico recesivo.","Spanish_Disease_Name__c":"aqueiropodia aislada","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":"Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the bones of the hands and feet. The condition appears to affect only the extremities, with no other signs and symptoms reported. It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0000376","GARD_Synonym__c":"acheiropody; acheiropody, brazilian type; achp; agenesis of hands and feet; horn-kolb syndrome","Name":"Acheiropodia","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":"Antenatal","Provided_By__c":"ORPHA:931"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:931"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265559"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000376","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536014","Source__c":"MONDO:0008700","Xref__c":"C536014"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=177504007","Source__c":"C0265559; MONDO:0008700","Xref__c":"177504007"},{"URL__c":"https://www.orpha.net/en/disease/detail/931","Source__c":"C0265559; MONDO:0008700","Xref__c":"ORPHA:931"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265559","Source__c":"C0265559","Xref__c":"C0265559"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050603","Source__c":"MONDO:0008700","Xref__c":"DOID:0050603"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120547","Source__c":"C0265559","Xref__c":"MEDGEN:120547"},{"URL__c":"https://www.omim.org/entry/200500","Source__c":"C0265559; MONDO:0008700; ORPHA:931","Xref__c":"OMIM:200500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008700","Source__c":"GARD:0000376","Xref__c":"MONDO:0008700"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LMBR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002990","HPO_Synonym__c":"Absent calf bone; Absent fibulae; Absent-hypoplastic fibulae","HPO_Name__c":"Fibular aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009813","HPO_Name__c":"Upper limb phocomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005792","HPO_Synonym__c":"Humeral hypoplasia; Humeral shortening; Hypoplastic humerus; Short humeri; Short humerus; Short long bone of upper arm; Short upper arms","HPO_Name__c":"Short humerus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Missing radius bone associated with congenital failure of development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003974","HPO_Synonym__c":"absence of radius and ulna; Absent ossification/absence of radius; Aplasia of the radius; Missing outer large bone of forearm; Radial aplasia","HPO_Name__c":"Absent radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Missing ulna bone associated with congenital failure of development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003982","HPO_Synonym__c":"Absent ossification/absent ulna; Absent ulna","HPO_Name__c":"Aplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:931","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The total absence of the hand, with no bony elements distal to the radius or ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004050","HPO_Synonym__c":"Absent hand; Acheiria","HPO_Name__c":"Absent hand","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":["acheiropody"," acheiropody, brazilian type"," achp"," agenesis of hands and feet"," horn-kolb syndrome"]}