{"Name":"Hirschsprung disease-type D brachydactyly syndrome","DiseaseID__c":"GARD:0002700","id":2700,"encodedName":"hirschsprung-disease-type-d-brachydactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hirschsprung disease-type D brachydactyly syndrome","Xref_IDs__c":"C1844017; C538319; MEDGEN:375339; MONDO:0016294; OMIM:306980; ORPHA:2150","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016294","Disease_Description__c":"Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.","GARD_Name__c":"Hirschsprung disease-type D brachydactyly syndrome","GARD_Synonym__c":"familial hirschsprung's disease and type d brachydactyly; hirschsprung disease with type d brachydactyly","Curated_Disease_Description_Source__c":"MONDO:0016294","Curated_Disease_Description__c":"Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2150","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016294","ORPHANET_ID__c":"ORPHA:2150","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de enfermedad de hirschsprung tipo d-braquidactilia","Spanish_Description_Source__c":"ORPHA:2150","Spanish_Description__c":"Es un síndrome caracterizado por la enfermedad de Hirschsprung y la ausencia o hipoplasia de las uñas y de las falanges distales del pulgar y del primer dedo del pie (braquidactilia tipo D). Se ha descrito en cuatro varones de una misma familia (dos hermanos y dos tíos maternos). La transmisión parece ser recesiva ligada al cromosoma X, pero no se puede descartar la herencia autosómica dominante con penetrancia incompleta en las mujeres.","Spanish_Disease_Name__c":"síndrome de enfermedad de hirschsprung tipo d-braquidactilia","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":"Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.","Curated_Disease_Description_Source__c":"MONDO:0016294","GARD_Synonym__c":"familial hirschsprung's disease and type d brachydactyly; hirschsprung disease with type d brachydactyly","Name":"Hirschsprung disease-type D brachydactyly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"REACH","Website__c":"https://www.reachhd.org"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"},{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"}],"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2150"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/306980","Source__c":"C1844017; MONDO:0016294; ORPHA:2150","Xref__c":"OMIM:306980"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375339","Source__c":"C1844017","Xref__c":"MEDGEN:375339"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844017","Source__c":"C1844017","Xref__c":"C1844017"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538319","Source__c":"MONDO:0016294","Xref__c":"C538319"},{"URL__c":"https://www.orpha.net/en/disease/detail/2150","Source__c":"C1844017; MONDO:0016294","Xref__c":"ORPHA:2150"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016294","Source__c":"GARD:0002700","Xref__c":"MONDO:0016294"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2150","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypoplastic (short) distal phalanx of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009650","HPO_Synonym__c":"Hypoplastic terminal thumb phalanx; Hypoplastic/small distal phalanx of the thumb; Short outermost bone of the thumb; Short terminal thumb phalanx; Short thumb terminal phalanx; Small terminal thumb phalanx","HPO_Name__c":"Short distal phalanx of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of a fingernail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001804","HPO_Synonym__c":"Small fingernail; Underdeveloped fingernail","HPO_Name__c":"Hypoplastic fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment (hypoplasia) of a phalanx of big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010111","HPO_Synonym__c":"Hypoplastic phalanges of the hallux; Short bone of big toe","HPO_Name__c":"Short phalanx of hallux","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2150","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2150","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010624","HPO_Synonym__c":"Absent/small toenails; Absent/underdeveloped toenails; Aplastic/hypoplastic toenails; Hypoplastic-absent toenails","HPO_Name__c":"Aplastic/hypoplastic toenail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["familial hirschsprung's disease and type d brachydactyly"," hirschsprung disease with type d brachydactyly"]}