{"Name":"Guttmacher syndrome","DiseaseID__c":"GARD:0004470","id":4470,"encodedName":"guttmacher-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Guttmacher syndrome","Xref_IDs__c":"722452004; C1867801; C538278; DOID:0111544; MEDGEN:401304; MONDO:0008301; OMIM:176305; ORPHA:2957","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008301","Disease_Description__c":"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.","GARD_Name__c":"Guttmacher syndrome","GARD_Synonym__c":"preaxial deficiency-postaxial polydactyly-hypospadias syndrome; preaxial deficiency, postaxial polydactyly, hypospadias syndrome","Curated_Disease_Description_Source__c":"MONDO:0008301","Curated_Disease_Description__c":"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2957","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008301","ORPHANET_ID__c":"ORPHA:2957","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de guttmacher","Spanish_Description_Source__c":"ORPHA:2957","Spanish_Description__c":"El síndrome de Guttmacher es un síndrome extremadamente raro caracterizado por pulgar y hallux hipoplásicos, clinobraquidactilia del quinto dedo, polidactilia postaxial de manos, segundos dedos de los pies cortos o con una única falange, con uñas ausentes e hipospadias.","Spanish_Disease_Name__c":"síndrome de guttmacher","Spanish_GARD_Synonym__c":"deficiencia preaxial-polidactilia postaxial-hipospadias","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":"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.","Curated_Disease_Description_Source__c":"MONDO:0008301","GARD_Synonym__c":"preaxial deficiency-postaxial polydactyly-hypospadias syndrome; preaxial deficiency, postaxial polydactyly, hypospadias syndrome","Name":"Guttmacher syndrome","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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","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:2957"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2957"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1867801"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004470","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2957","Source__c":"C1867801; MONDO:0008301; ORPHA:2957","Xref__c":"ORPHA:2957"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722452004","Source__c":"C1867801; MONDO:0008301","Xref__c":"722452004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111544","Source__c":"MONDO:0008301","Xref__c":"DOID:0111544"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401304","Source__c":"C1867801","Xref__c":"MEDGEN:401304"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538278","Source__c":"MONDO:0008301","Xref__c":"C538278"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867801","Source__c":"C1867801","Xref__c":"C1867801"},{"URL__c":"https://www.omim.org/entry/176305","Source__c":"C1867801; MONDO:0008301; ORPHA:2957","Xref__c":"OMIM:176305"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008301","Source__c":"GARD:0004470","Xref__c":"MONDO:0008301"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXA13","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hoxa13","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:176305","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001162","HPO_Synonym__c":"Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands","HPO_Name__c":"Postaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176305","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000807","HPO_Synonym__c":"Balanic hypospadias","HPO_Name__c":"Glanular hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176305","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009237","HPO_Synonym__c":"Fifth finger brachydactyly; Hypoplastic phalanges of the little finger; Hypoplastic/small 5th finger; Hypoplastic/small little finger; Short 5th finger; Short fifth finger; Short fifth fingers; Short little finger; Short phalanges of the little finger; Short pinkie finger; Short pinky finger","HPO_Name__c":"Short 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176305","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of the second toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001885","HPO_Synonym__c":"Short second toe","HPO_Name__c":"Short 2nd toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176305","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Orthopedics","Urologist","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["preaxial deficiency-postaxial polydactyly-hypospadias syndrome"," preaxial deficiency, postaxial polydactyly, hypospadias syndrome"]}