{"Name":"Mammary-digital-nail syndrome","DiseaseID__c":"GARD:0017180","id":17180,"encodedName":"mammary-digital-nail-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Mammary-digital-nail syndrome","Xref_IDs__c":"718679004; C3150946; MEDGEN:462296; MONDO:0013368; OMIM:613689; ORPHA:238744","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:0013368","Disease_Description__c":"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.","GARD_Name__c":"Mammary-digital-nail syndrome","GARD_Synonym__c":"mammary digital nail syndrome; mdn (mammary digital nail) syndrome; mdn syndrome; mdns; onycho-digito-mammary syndrome","Curated_Disease_Description_Source__c":"MONDO:0013368","Curated_Disease_Description__c":"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.","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:238744","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013368","ORPHANET_ID__c":"ORPHA:238744","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome mamario-dígito-ónico","Spanish_Description_Source__c":"ORPHA:238744","Spanish_Description__c":"El síndrome ónico-dígito-mamario es un síndrome de malformación de las extremidades que se caracteriza por onicodistrofia/anoniquia, braquidactilia del quinto dedo, digitalización de los pulgares, con ausencia o hipoplasia de las falanges distales de las manos y pies en asociación con hipertrofia juvenil de los pechos con gigantomastia en mujeres peripuberales.","Spanish_Disease_Name__c":"síndrome mamario-dígito-ónico","Spanish_GARD_Synonym__c":"síndrome mdn; síndrome ónico-dígito-mamario","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":"Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.","Curated_Disease_Description_Source__c":"MONDO:0013368","GARD_Synonym__c":"mammary digital nail syndrome; mdn (mammary digital nail) syndrome; mdn syndrome; mdns; onycho-digito-mammary syndrome","Name":"Mammary-digital-nail 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":"Obstetrics / Gynecology","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":"Infancy","Provided_By__c":"ORPHA:238744"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:238744"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462296","Source__c":"C3150946","Xref__c":"MEDGEN:462296"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150946","Source__c":"C3150946","Xref__c":"C3150946"},{"URL__c":"https://www.orpha.net/en/disease/detail/238744","Source__c":"C3150946; MONDO:0013368; ORPHA:238744","Xref__c":"ORPHA:238744"},{"URL__c":"https://www.omim.org/entry/613689","Source__c":"C3150946; MONDO:0013368; ORPHA:238744","Xref__c":"OMIM:613689"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718679004","Source__c":"C3150946; MONDO:0013368","Xref__c":"718679004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013368","Source__c":"GARD:0017180","Xref__c":"MONDO:0013368"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613689","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613689","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":"OMIM:613689","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613689","Feature__r":{"HPO_Description__c":"The presence of hypertrophy of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010313","HPO_Synonym__c":"Breast enlargement; Breasts enlarged; Gigantomastia; Hypertrophy of the breasts; Large breast; Macromastia","HPO_Name__c":"Breast hypertrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Orthopedics","Obstetrics / Gynecology","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["mammary digital nail syndrome"," mdn (mammary digital nail) syndrome"," mdn syndrome"," mdns"," onycho-digito-mammary syndrome"]}