{"Name":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","DiseaseID__c":"GARD:0000584","id":584,"encodedName":"hirschsprung-disease-nail-hypoplasia-dysmorphism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","Xref_IDs__c":"721223002; C1856110; C535615; MEDGEN:344653; MONDO:0009344; OMIM:235760; ORPHA:2153","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009344","Disease_Description__c":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.","GARD_Name__c":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","GARD_Synonym__c":"al gazali donnai muller syndrome; al gazali-donnai-muller syndrome; hirschsprung disease with hypoplastic nails and dysmorphic facial features; hirschsprung disease with nail hypoplasia and dysmorphism; hirschsprung's disease, hypoplastic nails, and dysmorphic facial features","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a rare and serious condition that affects the body in different ways. It can cause Hirschsprung disease, which is a problem with the large intestine, as well as other physical features like small nails, small limbs, and unusual facial features. It can also cause hydronephrosis, which is a problem with the kidneys.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2153","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009344","ORPHANET_ID__c":"ORPHA:2153","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de enfermedad de hirschsprung-hipoplasia ungueal-dismorfia","Spanish_Description_Source__c":"ORPHA:2153","Spanish_Description__c":"El síndrome de enfermedad de Hirschsprung-hipoplasia ungueal-dismorfia, es un trastorno malformativo letal caracterizado por la enfermedad de Hirschsprung, hipoplasia ungueal, hipoplasia de las extremidades distales y rasgos dismórficos craneofaciales menores (facies plana, fisuras palpebrales inclinadas hacia arriba, surco nasolabial estrecho, paladar estrecho y arqueado, micrognatia y orejas de implantación baja con hélices anómalas). También se ha notificado hidronefrosis. No ha habido más descripciones en la literatura desde 1988.","Spanish_Disease_Name__c":"síndrome de enfermedad de hirschsprung-hipoplasia ungueal-dismorfia","Spanish_GARD_Synonym__c":"síndrome de al gazali-donnai-muller","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-nail hypoplasia-dysmorphism syndrome is a rare and serious condition that affects the body in different ways. It can cause Hirschsprung disease, which is a problem with the large intestine, as well as other physical features like small nails, small limbs, and unusual facial features. It can also cause hydronephrosis, which is a problem with the kidneys.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"al gazali donnai muller syndrome; al gazali-donnai-muller syndrome; hirschsprung disease with hypoplastic nails and dysmorphic facial features; hirschsprung disease with nail hypoplasia and dysmorphism; hirschsprung's disease, hypoplastic nails, and dysmorphic facial features","Name":"Hirschsprung disease-nail hypoplasia-dysmorphism 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":"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":"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:2153"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344653","Source__c":"C1856110","Xref__c":"MEDGEN:344653"},{"URL__c":"https://www.orpha.net/en/disease/detail/2153","Source__c":"C1856110; MONDO:0009344; ORPHA:2153","Xref__c":"ORPHA:2153"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856110","Source__c":"C1856110","Xref__c":"C1856110"},{"URL__c":"https://www.omim.org/entry/235760","Source__c":"C1856110; MONDO:0009344; ORPHA:2153","Xref__c":"OMIM:235760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535615","Source__c":"MONDO:0009344","Xref__c":"C535615"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721223002","Source__c":"C1856110; MONDO:0009344","Xref__c":"721223002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009344","Source__c":"GARD:0000584","Xref__c":"MONDO:0009344"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:235760","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:235760","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:235760","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":"OMIM:235760","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:235760","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:235760","Feature__r":{"HPO_Description__c":"A nail that is diminished in length and width, i.e., underdeveloped nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001792","HPO_Synonym__c":"Hypoplastic nail; Hypoplastic nails; Nail hypoplasia; Small nail; Small nails","HPO_Name__c":"Small nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["al gazali donnai muller syndrome"," al gazali-donnai-muller syndrome"," hirschsprung disease with hypoplastic nails and dysmorphic facial features"," hirschsprung disease with nail hypoplasia and dysmorphism"," hirschsprung's disease, hypoplastic nails, and dysmorphic facial features"]}