{"Name":"Chronic granulomatous disease","DiseaseID__c":"GARD:0006100","id":6100,"encodedName":"chronic-granulomatous-disease","IsDeleted":false,"Disease_Name_Full__c":"Chronic granulomatous disease","Xref_IDs__c":"387759001; C0018203; C26788; D006105; DOID:3265; MEDGEN:5377; MONDO:0018305; NBK99496; OMIMPS:306400; ORPHA:379","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0018305","Disease_Description__c":"A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.","GARD_Name__c":"Chronic granulomatous disease","GARD_Synonym__c":"bridges-good syndrome; cgd; cgd - chronic granulomatous disease; chronic septic granulomatosis; congenital dysphagocytosis; quie syndrome","Curated_Disease_Description_Source__c":"GARD:0006100","Curated_Disease_Description__c":"Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes. Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system. Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:379","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018305","ORPHANET_ID__c":"ORPHA:379","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad granulomatosa crónica","Spanish_Description_Source__c":"ORPHA:379","Spanish_Description__c":"Es una inmunodeficiencia primaria poco frecuente que afecta principalmente a los fagocitos, y se caracteriza por una elevada susceptibilidad a las infecciones fúngicas y bacterianas graves y recurrentes, junto con el desarrollo de granulomas.","Spanish_Disease_Name__c":"enfermedad granulomatosa crónica","Spanish_GARD_Synonym__c":"cgd; granulomatosis séptica crónica","Category_Linearization__c":"ORPHA:98004","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":"Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes. Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system. Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.","Curated_Disease_Description_Source__c":"GARD:0006100","GARD_Synonym__c":"bridges-good syndrome; cgd; cgd - chronic granulomatous disease; chronic septic granulomatosis; congenital dysphagocytosis; quie syndrome","Name":"Chronic granulomatous disease","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"Asociación Española de Déficit Inmunitarios Primarios (AEDIP)","Website__c":"https://www.aedip.com/"},{"Account_Name__c":"CGD Association of America","Website__c":"https://cgdaa.org/"},{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"CGD Society","Website__c":"https://cgdsociety.org/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.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":"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"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":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:379"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:379"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:379"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:379"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0018203"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006100","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK99496","Source__c":"Gene Review","Xref__c":"NBK99496"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3265","Source__c":"MONDO:0018305","Xref__c":"DOID:3265"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS306400","Source__c":"MONDO:0018305","Xref__c":"OMIMPS:306400"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=387759001","Source__c":"C0018203; MONDO:0018305","Xref__c":"387759001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006105","Source__c":"C0018203; MONDO:0018305","Xref__c":"D006105"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0018203","Source__c":"C0018203","Xref__c":"C0018203"},{"URL__c":"https://www.orpha.net/en/disease/detail/379","Source__c":"C0018203; MONDO:0018305; ORPHA:379","Xref__c":"ORPHA:379"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26788","Source__c":"C0018203; MONDO:0018305","Xref__c":"C26788"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5377","Source__c":"C0018203","Xref__c":"MEDGEN:5377"},{"URL__c":"https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease","Source__c":"GARD:0006100","Xref__c":"https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018305","Source__c":"GARD:0006100","Xref__c":"MONDO:0018305"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cybb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NCF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ncf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CYBC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NCF2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ncf2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CYBA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyba","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NCF4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ncf4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed area of pus or necrotic debris in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100523","HPO_Synonym__c":"Hepatic abscess; Liver abscess","HPO_Name__c":"Liver abscess","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the eye, parts of the eye or the periorbital region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100533","HPO_Synonym__c":"Inflammatory abnormality of the eye; Ocular inflammation","HPO_Name__c":"Inflammatory abnormality of the eye","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002021","HPO_Synonym__c":"Infantile hypertrophic pyloric stenosis; Pylorus stenosis","HPO_Name__c":"Pyloric stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006510","HPO_Synonym__c":"Chronic obstructive pulmonary disease; COPD","HPO_Name__c":"Chronic pulmonary obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the meninges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001287","HPO_Name__c":"Meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000230","HPO_Synonym__c":"Gingival inflammation; Inflamed gums; Red and swollen gums","HPO_Name__c":"Gingivitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation or infection of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000388","HPO_Synonym__c":"Middle ear infection","HPO_Name__c":"Otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100721","HPO_Synonym__c":"Swollen lymph nodes in center of chest","HPO_Name__c":"Mediastinal lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal connection (fistula) between the esophagus and the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002575","HPO_Name__c":"Tracheoesophageal fistula","Feature_System__c":"Respiratory system; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A neutrophil abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001874","HPO_Synonym__c":"Abnormality of neutrophil; Abnormality of neutrophils; Abnormality of polymorphonuclear neutrophils","HPO_Name__c":"Abnormality of neutrophils","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Dermatology"],"Specialist":["Genetics","Pulmonology","Ophthalmology","Immunology","Dermatology","Pediatrics"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["bridges-good syndrome"," cgd"," cgd - chronic granulomatous disease"," chronic septic granulomatosis"," congenital dysphagocytosis"," quie syndrome"],"spanishId":13166,"spanishName":"enfermedad-granulomatosa-cronica"}