{"Name":"Congenital diaphragmatic hernia","DiseaseID__c":"GARD:0001481","id":1481,"encodedName":"congenital-diaphragmatic-hernia","IsDeleted":false,"Disease_Name_Full__c":"Congenital diaphragmatic hernia","Xref_IDs__c":"17190001; C0235833; C98893; D065630; DOID:3827; HP:0000776; MEDGEN:68625; MONDO:0005711; OMIMPS:142340; ORPHA:2140; Q79.0","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005711","Disease_Description__c":"A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.","GARD_Name__c":"Congenital diaphragmatic hernia","GARD_Synonym__c":"agenesis of hemidiaphragm; cdh; cdh - congenital diaphragmatic hernia; congenital diaphragmatic defect; diaphragmatic hernia; dih; unilateral agenesis of diaphragm","Curated_Disease_Description_Source__c":"GARD:0001481","Curated_Disease_Description__c":"Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons. Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2140","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005711","ORPHANET_ID__c":"ORPHA:2140","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hernia diafragmática congénita","Spanish_Description_Source__c":"ORPHA:2140","Spanish_Description__c":"Es un defecto poco frecuente del desarrollo durante la embriogénesis, pudiendo tratarse de una malformación diafragmática no sindrómica (70%) o sindrómica (30%), caracterizada por un defecto posterolateral del diafragma que permite el paso de las vísceras abdominales al tórax, lo que provoca insuficiencia respiratoria e hipertensión pulmonar persistente.","Spanish_Disease_Name__c":"hernia diafragmática congénita","Spanish_GARD_Synonym__c":"cdh","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":"Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons. Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.","Curated_Disease_Description_Source__c":"GARD:0001481","GARD_Synonym__c":"agenesis of hemidiaphragm; cdh; cdh - congenital diaphragmatic hernia; congenital diaphragmatic defect; diaphragmatic hernia; dih; unilateral agenesis of diaphragm","Name":"Congenital diaphragmatic hernia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"},{"Account_Name__c":"CDH UK","Website__c":"https://www.cdhuk.org.uk/"},{"Account_Name__c":"CDH International","Website__c":"https://cdhi.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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:2140"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001481","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1359","Xref__c":"NBK1359"},{"URL__c":"https://www.orpha.net/en/disease/detail/2140","Source__c":"C0235833; MONDO:0005711; ORPHA:2140","Xref__c":"ORPHA:2140"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98893","Source__c":"C0235833; MONDO:0005711","Xref__c":"C98893"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C065630","Source__c":"C0235833; MONDO:0005711","Xref__c":"D065630"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS142340","Source__c":"MONDO:0005711","Xref__c":"OMIMPS:142340"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0235833","Source__c":"C0235833","Xref__c":"C0235833"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=68625","Source__c":"C0235833","Xref__c":"MEDGEN:68625"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3827","Source__c":"MONDO:0005711","Xref__c":"DOID:3827"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q79.0","Source__c":"MONDO:0005711","Xref__c":"Q79.0"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000776","Source__c":"C0235833","Xref__c":"HP:0000776"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-diaphragmatic-hernia","Source__c":"GARD:0001481","Xref__c":"https://medlineplus.gov/genetics/condition/congenital-diaphragmatic-hernia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005711","Source__c":"GARD:0001481","Xref__c":"MONDO:0005711"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17190001","Source__c":"C0235833","Xref__c":"17190001"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010315","HPO_Synonym__c":"Absent/small diaprhagm; Absent/underdeveloped diaprhagm","HPO_Name__c":"Aplasia/Hypoplasia of the diaphragm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000884","HPO_Synonym__c":"Prominent sternum; Sternal protrusion","HPO_Name__c":"Prominent sternum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2140","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a hernia of the diaphragm present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000776","HPO_Synonym__c":"Diaphragmatic hernia","HPO_Name__c":"Congenital diaphragmatic hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Pulmonology","Pediatrics"],"Disease Category":["Pulmonology","Congenital Abnormality"]},"synonyms":["agenesis of hemidiaphragm"," cdh"," cdh - congenital diaphragmatic hernia"," congenital diaphragmatic defect"," diaphragmatic hernia"," dih"," unilateral agenesis of diaphragm"]}