{"Name":"X-linked immunoneurologic disorder","DiseaseID__c":"GARD:0000274","id":274,"encodedName":"x-linked-immunoneurologic-disorder","IsDeleted":false,"Disease_Name_Full__c":"X-linked immunoneurologic disorder","Xref_IDs__c":"719827008; C1848144; C536743; MEDGEN:341162; MONDO:0010243; OMIM:300076; ORPHA:2571","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010243","Disease_Description__c":"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.","GARD_Name__c":"X-linked immunoneurologic disorder","GARD_Synonym__c":"immunoneurologic disorder, x-linked; neonatal death immune deficiency; woods black norbury syndrome; woods-black-norbury syndrome; woods-black-norbury syndrome, x-linked dominant; x-linked immunoneurological disorder","Curated_Disease_Description_Source__c":"MONDO:0010243","Curated_Disease_Description__c":"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2571","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010243","ORPHANET_ID__c":"ORPHA:2571","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno inmunoneurológico ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:2571","Spanish_Description__c":"Se caracteriza por muerte durante el periodo neonatal en los varones y por deficiencia inmunitaria y problemas neurológicos en las mujeres.","Spanish_Disease_Name__c":"trastorno inmunoneurológico ligado al cromosoma x","Spanish_GARD_Synonym__c":"síndrome de woods-black-norbury","Category_Linearization__c":"ORPHA:98006","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":"X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.","Curated_Disease_Description_Source__c":"MONDO:0010243","GARD_Synonym__c":"immunoneurologic disorder, x-linked; neonatal death immune deficiency; woods black norbury syndrome; woods-black-norbury syndrome; woods-black-norbury syndrome, x-linked dominant; x-linked immunoneurological disorder","Name":"X-linked immunoneurologic disorder","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Immunology","Tag_Category__c":"Specialist"},{"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":"Infancy","Provided_By__c":"ORPHA:2571"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2571"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536743","Source__c":"MONDO:0010243","Xref__c":"C536743"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341162","Source__c":"C1848144","Xref__c":"MEDGEN:341162"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848144","Source__c":"C1848144","Xref__c":"C1848144"},{"URL__c":"https://www.orpha.net/en/disease/detail/2571","Source__c":"C1848144; MONDO:0010243; ORPHA:2571","Xref__c":"ORPHA:2571"},{"URL__c":"https://www.omim.org/entry/300076","Source__c":"C1848144; MONDO:0010243; ORPHA:2571","Xref__c":"OMIM:300076"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719827008","Source__c":"C1848144; MONDO:0010243","Xref__c":"719827008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010243","Source__c":"GARD:0000274","Xref__c":"MONDO:0010243"}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008348","HPO_Synonym__c":"Decreased circulating IgG2 level; Decreased IgG2 level in blood; Immunoglobulin IgG2 deficiency; Reduced IgG2 levels","HPO_Name__c":"Decreased circulating IgG2 concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysfunction of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000009","HPO_Synonym__c":"Poor bladder function","HPO_Name__c":"Functional abnormality of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002103","HPO_Synonym__c":"Abnormality of the pleura","HPO_Name__c":"Abnormal pleura morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012638","HPO_Synonym__c":"Abnormality of nervous system physiology","HPO_Name__c":"Abnormal nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2571","HPO_Frequency__c":"Frequent (30-79%)","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:2571","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["immunoneurologic disorder, x-linked"," neonatal death immune deficiency"," woods black norbury syndrome"," woods-black-norbury syndrome"," woods-black-norbury syndrome, x-linked dominant"," x-linked immunoneurological disorder"]}