{"Name":"Leukocyte adhesion deficiency","DiseaseID__c":"GARD:0016616","id":16616,"encodedName":"leukocyte-adhesion-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Leukocyte adhesion deficiency","Xref_IDs__c":"77358003; C0272187; C27874; DOID:6612; MEDGEN:124419; MONDO:0017570; ORPHA:2968","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017570","Disease_Description__c":"Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.","GARD_Name__c":"Leukocyte adhesion deficiency","GARD_Synonym__c":"congenital leukocyte adherence deficiency; lad","Curated_Disease_Description_Source__c":"MONDO:0017570","Curated_Disease_Description__c":"A rare primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis, recurrent infections, and delayed detachment of the umbilical cord.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2968","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017570","ORPHANET_ID__c":"ORPHA:2968","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de adhesión leucocitaria","Spanish_Description_Source__c":"ORPHA:2968","Spanish_Description__c":"La deficiencia de adhesión leucocitaria (DAL) es una inmunodeficiencia primaria caracterizada por anomalías en los procesos de adhesión leucocitaria, leucocitosis grave e infecciones recurrentes.","Spanish_Disease_Name__c":"deficiencia de adhesión leucocitaria","Spanish_GARD_Synonym__c":"lad","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":"A rare primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis, recurrent infections, and delayed detachment of the umbilical cord.","Curated_Disease_Description_Source__c":"MONDO:0017570","GARD_Synonym__c":"congenital leukocyte adherence deficiency; lad","Name":"Leukocyte adhesion deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2968"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2968"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27874","Source__c":"C0272187; MONDO:0017570","Xref__c":"C27874"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272187","Source__c":"C0272187","Xref__c":"C0272187"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124419","Source__c":"C0272187","Xref__c":"MEDGEN:124419"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=77358003","Source__c":"MONDO:0017570","Xref__c":"77358003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6612","Source__c":"MONDO:0017570","Xref__c":"DOID:6612"},{"URL__c":"https://www.orpha.net/en/disease/detail/2968","Source__c":"C0272187; MONDO:0017570","Xref__c":"ORPHA:2968"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017570","Source__c":"GARD:0016616","Xref__c":"MONDO:0017570"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025452","HPO_Name__c":"Pyoderma gangrenosum","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000509","HPO_Synonym__c":"Pink eye","HPO_Name__c":"Conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032435","HPO_Synonym__c":"Omphalitis; Umbilical cord stump infection","HPO_Name__c":"Neonatal omphalitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011107","HPO_Synonym__c":"Recurrent canker sores; Recurrent oral aphthae","HPO_Name__c":"Recurrent aphthous stomatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An infection of the upper or lower respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011947","HPO_Synonym__c":"Respiratory infection; Respiratory tract infection","HPO_Name__c":"Respiratory tract infection","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011110","HPO_Synonym__c":"Recurrent inflammation of tonsils","HPO_Name__c":"Recurrent tonsillitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","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:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the umbilical cord occurs at an abnormally late timepoint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032434","HPO_Synonym__c":"Delayed separation of umbilical cord","HPO_Name__c":"Delayed umbilical cord separation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002586","HPO_Synonym__c":"Inflammation of the peritoneum","HPO_Name__c":"Peritonitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040238","HPO_Synonym__c":"Neutrophil migratory defect","HPO_Name__c":"Impaired neutrophil chemotaxis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","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:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abscess located around the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009789","HPO_Name__c":"Perianal abscess","Feature_System__c":"Skin System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500035","HPO_Name__c":"Nasolacrimal sac granuloma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","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:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated symptomatic episodes of inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030683","HPO_Synonym__c":"Vaginitis","HPO_Name__c":"Recurrent bacterial vaginosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of periodontitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000166","HPO_Synonym__c":"Severe periodontal disease; Severe pyorrhea","HPO_Name__c":"Severe periodontitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009098","HPO_Synonym__c":"Chronic oral thrush","HPO_Name__c":"Chronic oral candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","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:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006527","HPO_Synonym__c":"Lymphocytic interstitial pneumonitis; Lymphoid interstitial pneumonia; Lymphoid interstitial pneumonitis","HPO_Name__c":"Lymphocytic interstitial pneumonia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","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:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001901","HPO_Synonym__c":"Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia","HPO_Name__c":"Polycythemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000825","HPO_Synonym__c":"Hyperinsulinaemic hypoglycaemia; Hyperinsulinemia hypoglycemia","HPO_Name__c":"Hyperinsulinemic hypoglycemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005575","HPO_Synonym__c":"Hemolytic uremic syndrome","HPO_Name__c":"Hemolytic-uremic syndrome","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002841","HPO_Synonym__c":"Recurrent fungal infections","HPO_Name__c":"Recurrent fungal infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003540","HPO_Synonym__c":"Defective platelet aggregation; Deficient platelet aggregation; Platelet aggregation defect","HPO_Name__c":"Impaired platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007499","HPO_Synonym__c":"Recurrent staphylococcal infections","HPO_Name__c":"Recurrent staphylococcal infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020087","HPO_Synonym__c":"BCGiosis; Disseminated Bacillus Calmette-Guerin infection","HPO_Name__c":"BCGosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Premature closure of the coronal suture of skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004440","HPO_Synonym__c":"Coronal suture craniosynostosis; Coronal suture synostosis; Craniosynostosis of coronal suture","HPO_Name__c":"Coronal craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any functional abnormality of neutrophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011990","HPO_Synonym__c":"Abnormality of neutrophil physiology","HPO_Name__c":"Abnormal neutrophil physiology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Immunology","Neuro-Ophthalmology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["congenital leukocyte adherence deficiency"," lad"]}