{"Name":"Adactylia, unilateral","DiseaseID__c":"GARD:0000377","id":377,"encodedName":"adactylia-unilateral","IsDeleted":false,"Disease_Name_Full__c":"Adactylia, unilateral","Xref_IDs__c":"C0220660; C562417; MEDGEN:113098; MONDO:0007062; OMIM:102650; ORPHA:973","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007062","Disease_Description__c":"Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.","GARD_Name__c":"Adactylia, unilateral","GARD_Synonym__c":"adactylia unilateral; adactyly of hand, unilateral; congenital absence/hypoplasia of fingers excluding thumb, unilateral; digits 2-5 hypodactyly, unilateral; digits 2-5 oligodactyly, unilateral; terminal transverse defects of hand, unilateral","Curated_Disease_Description_Source__c":"MONDO:0007062","Curated_Disease_Description__c":"Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.","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:973","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007062","ORPHANET_ID__c":"ORPHA:973","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ausencia/hipoplasia aislada de los dedos de la mano a excepción del pulgar, unilateral","Spanish_Description_Source__c":"ORPHA:973","Spanish_Description__c":"La ausencia / hipoplasia congénita unilateral de los dedos de la mano a excepción del pulgar es un defecto de reducción terminal transversal de la extremidad, no sindrómico y poco frecuente, caracterizado por la ausencia unilateral de las porciones terminales de los dígitos 2º a 5º, con un pulgar levemente hipoplásico y pequeños restos de uñas en los muñones de los dedos. Los huesos metacarpianos pueden estar reducidos de forma variable.","Spanish_Disease_Name__c":"ausencia/hipoplasia aislada de los dedos de la mano a excepción del pulgar, unilateral","Spanish_GARD_Synonym__c":"adactilia congénita de la mano aislada, unilateral; hipodactilia aislada de los dedos 2-5, unilateral; oligodactilia aislada de los dedos 2-5, unilateral","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":"Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.","Curated_Disease_Description_Source__c":"MONDO:0007062","GARD_Synonym__c":"adactylia unilateral; adactyly of hand, unilateral; congenital absence/hypoplasia of fingers excluding thumb, unilateral; digits 2-5 hypodactyly, unilateral; digits 2-5 oligodactyly, unilateral; terminal transverse defects of hand, unilateral","Name":"Adactylia, unilateral","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:973"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:973"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/102650","Source__c":"C0220660; MONDO:0007062; ORPHA:973","Xref__c":"OMIM:102650"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562417","Source__c":"MONDO:0007062","Xref__c":"C562417"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=113098","Source__c":"C0220660","Xref__c":"MEDGEN:113098"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220660","Source__c":"C0220660","Xref__c":"C0220660"},{"URL__c":"https://www.orpha.net/en/disease/detail/973","Source__c":"C0220660; MONDO:0007062","Xref__c":"ORPHA:973"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007062","Source__c":"GARD:0000377","Xref__c":"MONDO:0007062"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:973","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormal shape or structure of the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005916","HPO_Synonym__c":"Abnormal shape of long bones of hand; Abnormal shape of metacarpal bones","HPO_Name__c":"Abnormal metacarpal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:973","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:973","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:973","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased length of nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001799","HPO_Synonym__c":"Short nail; Short nails","HPO_Name__c":"Short nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:973","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial or complete duplication of the distal phalanx of little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009988","HPO_Synonym__c":"Duplication of the outermost little finger bone; Duplication of the outermost pinkie finger bone; Duplication of the outermost pinky finger bone; Partial/complete duplication of the distal phalanx of the 5th finger","HPO_Name__c":"Duplication of the distal phalanx of the 5th 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":["adactylia unilateral"," adactyly of hand, unilateral"," congenital absence/hypoplasia of fingers excluding thumb, unilateral"," digits 2-5 hypodactyly, unilateral"," digits 2-5 oligodactyly, unilateral"," terminal transverse defects of hand, unilateral"]}