{"Name":"Isolated congenital digital clubbing","DiseaseID__c":"GARD:0017117","id":17117,"encodedName":"isolated-congenital-digital-clubbing","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital digital clubbing","Xref_IDs__c":"C0345408; MEDGEN:576901; MONDO:0007343; OMIM:119900; ORPHA:217059","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007343","Disease_Description__c":"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.","GARD_Name__c":"Isolated congenital digital clubbing","GARD_Synonym__c":"acropachy; acropachy, hereditary; clubbing of digits; hereditary acropachy; hereditary clubbing; hippocratic fingers; isolated congenital acropachy; isolated congenital nail clubbing","Curated_Disease_Description_Source__c":"MONDO:0007343","Curated_Disease_Description__c":"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.","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:217059","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007343","ORPHANET_ID__c":"ORPHA:217059","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipocratismo digital aislado","Spanish_Description_Source__c":"ORPHA:217059","Spanish_Description__c":"El hipocratismo digital aislado congénito es una genodermatosis rara caracterizada por una hipertrofia del segmento terminales de los dedos de manos y pies, con engrosamiento de las uñas sin ninguna otra anomalía.","Spanish_Disease_Name__c":"hipocratismo digital aislado","Spanish_GARD_Synonym__c":"acropaquia congénita aislada; hipocratismo digital congénito aislado","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":"Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.","Curated_Disease_Description_Source__c":"MONDO:0007343","GARD_Synonym__c":"acropachy; acropachy, hereditary; clubbing of digits; hereditary acropachy; hereditary clubbing; hippocratic fingers; isolated congenital acropachy; isolated congenital nail clubbing","Name":"Isolated congenital digital clubbing","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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:217059"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:217059"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/217059","Source__c":"C0345408; MONDO:0007343; ORPHA:217059","Xref__c":"ORPHA:217059"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=576901","Source__c":"C0345408","Xref__c":"MEDGEN:576901"},{"URL__c":"https://www.omim.org/entry/119900","Source__c":"C0345408; MONDO:0007343; ORPHA:217059","Xref__c":"OMIM:119900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0345408","Source__c":"C0345408","Xref__c":"C0345408"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239055005","Source__c":"C0345408","Xref__c":"239055005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007343","Source__c":"GARD:0017117","Xref__c":"MONDO:0007343"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HPGD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width of nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001821","HPO_Synonym__c":"Broad fingernails; Broad nail; Wide fingernails","HPO_Name__c":"Broad nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width of the distal segment of a finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011300","HPO_Synonym__c":"Broad fingertip; Broad fingertips","HPO_Name__c":"Broad fingertip","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001805","HPO_Synonym__c":"Dystrophic thickened nails; Onychogryposis; Thick nail; Thickened nails","HPO_Name__c":"Onychogryphosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the fingers (distal phalanges of the fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100759","HPO_Synonym__c":"Clubbed fingers; Clubbing (hands); Clubbing of fingers; Finger clubbing","HPO_Name__c":"Clubbing of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width of a non-thumb digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001500","HPO_Synonym__c":"Broad finger; Broad fingers; Wide fingers","HPO_Name__c":"Broad finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008391","HPO_Synonym__c":"Poor fingernail formation","HPO_Name__c":"Dystrophic fingernails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003549","HPO_Name__c":"Abnormality of connective tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001795","HPO_Synonym__c":"Increased nail curvature; Nail overcurvature","HPO_Name__c":"Hyperconvex nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001837","HPO_Synonym__c":"Broad toe; Wide toe","HPO_Name__c":"Broad toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002164","HPO_Synonym__c":"Atypical nail growth; Dysplastic nails; Onychodysplasia","HPO_Name__c":"Nail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012203","HPO_Name__c":"Onychomycosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Terminal broadening of the toes (distal phalanges of the toes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100760","HPO_Name__c":"Clubbing of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:217059","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["acropachy"," acropachy, hereditary"," clubbing of digits"," hereditary acropachy"," hereditary clubbing"," hippocratic fingers"," isolated congenital acropachy"," isolated congenital nail clubbing"]}